Tag: AIIMS PG

Pediatric burn injury

Pediatric burn injury


INTRODUCTION:

  • Burns and scalds account for 6% of peadiatric injuries.
  • The majority involve pre-school children,burns being most common between 1-2 yrs,flame burns bet 5-18 yrs.
  • Children have nearly 3 times BSA:BM ratio of adults.
  • Consequently greater fluid requirements and more evaporative water loss than adults.
  • Children
  • Burn that may appear partial thickness may instead be a full thickness burn.
BURNS:
Wounds caused by exposure to:
  • Excessive heat
  • Chemicals
  • Fire/steam
  • Radiation
  • Electricity
DEPTH OF BURN:
  • Partial thickness burn = involves epidermis
  • Deep partial thickness = involves dermis
  • Full thickness = involves all of skin
DEGREE OF BURN:

1st DEGREE BURN:

  • Involves only epidermis
  • Tissue will blanch with pressure
  • Tissue is erythematous and often painful
  • Involves minimal tissue damage
  • Sunburn

2nd DEGREE BURN:

  • Partial thickness burns 
  • Involve the epidermis and portions of the dermis 
  • Often involve other structures such as sweat glands, hair follicles, etc. 
  • Blisters and very painful 
  • Edema and decreased blood flow in tissue can convert to a full-thickness burn

3rd DEGREE BURN:

  • Referred to as fullthickness burns 
  • Charred skin or translucent white color 
  • Coagulated vessels visible 
  • Area insensate – patient still c/o pain from surrounding second degree burn area 
  • Complete destruction of tissue and structures

4th DEGREE BURN:

  • Involves subcutaneous tissue, tendons and bone
MAJOR BURNS:
  • PT and FTB with affected BSA>10% under 10yrs age. 
  • PT and FTB with affected BSA>20% over 10 yrs age. 
  • FTB with affected BSA>5%. 
  • PT or FTB involving face,hands,feet,perinium or major joints. 
  • PT or FTB involving an inhalational burn. 
  • PT or FTB involving an electrical or chemical burn.
BURNS EXTENT:
  • Burn extent is calculated only on individuals with second and third degree burns
  • Palmar surface = 1% of the BSA
MEASUREMENT CHARTS:
  • Rule of Nines: Quick estimate of percent of burn
  • Lund and Browder:
    • More accurate assessment tool
    • Useful chart for children – takes into account the head size proportion.
  • Rule of Palms: Good for estimating patches of burn wound
RULES OF NINES:
  • Head & Neck = 9%
  • Each upper extremity (Arms) = 9%
  • Each lower extremity (Legs) = 18%
  • Anterior trunk= 18%
  • Posterior trunk = 18%
  • Genitalia (perineum) = 1%
MANAGEMENT:

URGENT:

  • High flow o2 face mask with reservior bag.
  • Cervical collar (injury spine )
  • Cooling burn wound –cold running water for 15-20 min,avoid making pt hypothermic.
  • Prevent hypothermia
  • Insert min 2 peripheral cannula in unburnt skin
  • Fluid resusitatation
  • Insert urinary catheter in all pts>20% BSA.
  • Fast the pt and insert NG tube for all pts with>20% BSA,all intubated pts,head and neck burns,younger children >10%BSA.
  • Adequate analgesia-IV opoids.
  • Emergency wound management e.g.,cling film or clean non-adhesive dressing.
  • Escharotomy if indicated e.g., circumferential burns around limbs or trunk.

PARKLAND FORMULA:

  • 4 ml R/L x % burn x body wt. In kg. 
  • ½ of calculated fluid is administered in the first 8 hours 
  • Balance is given over the remaining 16 hours. 
  • Maintain urine output at 0.5 ml/kg/hr.  
  • If evidence of extensive tissue damage then aim for a higher UO 1-2 ml/kg/hr. 
  • Monitor sr electrolytes esp for hyponatremia. 
  • In younger children calculate the maintenance fluids and add this to the resusitation fluids

Surgeries and Dressings:

  • Escharotomy may be needed for circumferential burns to limbs,neck or trunk. 
  • Early surgical debridement of nectrotic tissue is preferred as early grafting is associated with improved outcome. 
  • Scrubbing of affected skin is also frequently undertaken. 
  • Blood loss during operative sessions can be large.

Escharotomy:

  • Circulation to distal limb is in danger due to swelling. 
  • Progressive loss of sensation / motion in hand / foot. 
  • Progressive loss of pulses in the distal extremity by palpation or doppler. 
  • In circumferential chest burn, patient might not be able to expand his chest enough to ventilate, and might need escharotomy of the skin of the chest.

Exam Important

  • According to Parkland formula, the initial orders for choice of fluid and rate of infusion should be Ringer’s lactate, 1250 ml/h for 71/2h
  • Burn injury with the body parts involved: face including scalp, both buttocks and circumferentially around both thighs TBSA 0.35
  • Burns in children assessed by Lund and Browder
  • Head and neck burns in infant constitute 18 of burns
  • Parkland formula for burns is for Ringer lactate

 

Don’t Forget to Solve all the previous Year Question asked on Pediatric burn injury

Module Below Start Quiz

Pediatric burn injury

Pediatric burn injury

Q. 1 A 3 year old child suffers from burn injury with the following body parts involved: face including scalp, both buttocks and circumferentially around both thighs. How much is TBSA involved? 

 A

0.25

 B

0.26

 C

0.35

 D

0.45

Q. 1

A 3 year old child suffers from burn injury with the following body parts involved: face including scalp, both buttocks and circumferentially around both thighs. How much is TBSA involved? 

 A

0.25

 B

0.26

 C

0.35

 D

0.45

Ans. C

Explanation:

Ans is ‘c’ i.e. 0.35 

Using Modified Lund-Browder chart:

Area

Percentage

 

Face

9

 

Scalp

9

 

Both buttocks

2.5 + 2.5 = 5

 

Both thighs circumferentially

3.5 x 2 + 3.5 x 2 =

15

Total body surface area

38

 

 [img id=10162]


Q. 2

Burns in children assessed by:     
AIIMS 13

 A

Rule of nine

 B

Lund and Browder

 C

Palmer surface method

 D

Hasse’s rule

Q. 2

Burns in children assessed by:     
AIIMS 13

 A

Rule of nine

 B

Lund and Browder

 C

Palmer surface method

 D

Hasse’s rule

Ans. B

Explanation:

Ans. Lund and Browder


Q. 3

Head and neck burns in infant constitute _____________of burns:          
Kerala 08

 A

9

 B

18

 C

24

 D

36

Q. 3

Head and neck burns in infant constitute _____________of burns:          
Kerala 08

 A

9

 B

18

 C

24

 D

36

Ans. B

Explanation:

Ans. 18

Quiz In Between
Q. 4

A 2-year-old child had burns on buttocks, both legs, face, neck and singeing of hair. Total surface area burnt:    
JIPMER 14

 A

27%

 B

37%

 C

45%

 D

55%

Q. 4

A 2-year-old child had burns on buttocks, both legs, face, neck and singeing of hair. Total surface area burnt:    
JIPMER 14

 A

27%

 B

37%

 C

45%

 D

55%

Ans. B

Explanation:

Ans. 37%


Q. 5

In a 6-year-old child with burns involving whole of head and trunk, the estimated body surface area involved:      
JIPMER 09

 A

44%

 B

48%

 C

55%

 D

58%

Q. 5

In a 6-year-old child with burns involving whole of head and trunk, the estimated body surface area involved:      
JIPMER 09

 A

44%

 B

48%

 C

55%

 D

58%

Ans. B

Explanation:

Ans. 48%


Q. 6

Parkland formula for burns is for:
Maharashtra 09; UP 09; Bihar 12

 A

Ringer lactate

 B

Glucose saline

 C

Normal saline

 D

25% dextrose

Q. 6

Parkland formula for burns is for:
Maharashtra 09; UP 09; Bihar 12

 A

Ringer lactate

 B

Glucose saline

 C

Normal saline

 D

25% dextrose

Ans. A

Explanation:

Ans. Ringer lactate

Quiz In Between


Atherosclerosis

Atherosclerosis


ATHEROSCLEROSIS

  • Atherosclerosis is an thickening & hardening muscular arteries which is characterised by soft gramous lipid cores (atheromatous plaque).
  • It is the commonest & most important arterial disease.
  • Most commonly affected are aorta, coronaries & cerebral arterial system.
  • Most commonly coronoary circulation affected is – Left anterior descending artery

Etiology

Pathogenesis-

  • Most widely accepted theory for atherosclerosis is inflammatory response to endothelial injury.
  • According to this hypothesis, atherosclerosis is a chronic inflammatory response of the arterial wall initiated by injury to endothelium.
  • Hyperlipidemia, hypertension, smoking can cause endothelial injury.
  • Foam cells are formed when macrophages & smooth muscle cells accumulated oxidised LDL.
  • Chlamydia Pneumoniae presents the strongest association with human atherosclerosis.

Morphological features-

1. Fatty streaks & Dots- are the earliest lesions composed of intimal collections of foamy macrophages & smooth muscle cells.

  • Prominent in the aorta (often in posterior wall)

2. Gelatinous lesions- develop in the intima of the aorta.

3. Artheromatous plaques (arthemaous lesions/ fibrous plaque)-

  • Most severely affected is the abdominal aorta.
  • Involves iliac, femoral, carotid, coronary & cerebral arteries.
  • Superficial luminal part of the fibrous cap (convex) composed by smooth muscle cells.
  • Cellular area under fibrous cap composed of macrophages, foam cells, lymphocytes.
  • Deeper central soft core consists of cholesterol clefts, fibrin, necrotic debris & lipid- laden foam cells.

4. Complicated plaques-

  • Calcification- occurs more commonly in advanced athermatous plaques.
  • Ulceration
  • Thrombosis- superimposed thrombi
  • Haemorrhage

Clinical features-

Major clinical effects of atheroscelrosis are-

  1. Heart (coronary artery disease, IMD, MI)
  2. Brain (stroke)
  3. Aorta (aneurysmal dilatation)
  4. Intestine (ischaemia, infarct)
  5. Lower extremities (gangrene)
  • Blood vessels affected by atherosclerosis- abdominal aorta (most commonly), Circle of Willis (least commonly affected)

Exam Important

  • Most commonly affected are aorta, coronaries & cerebral arterial system.
  • Most commonly coronoary circulation affected is – Left anterior descending artery

Etiology

Pathogenesis-

  • Most widely accepted theory for atherosclerosis is inflammatory response to endothelial injury.
  • According to this hypothesis, atherosclerosis is a chronic inflammatory response of the arterial wall initiated by injury to endothelium.
  • Hyperlipidemia, hypertension, smoking can cause endothelial injury.
  • Foam cells are formed when macrophages & smooth muscle cells accumulated oxidised LDL.
  • Chlamydia Pneumoniae presents the strongest association with human atherosclerosis.

Morphological features-

1. Fatty streaks & Dots- are the earliest lesions composed of intimal collections of foamy macrophages & smooth muscle cells.

  • Prominent in the aorta (often in posterior wall)

2. Gelatinous lesions- develop in the intima of the aorta.

3. Artheromatous plaques (arthemaous lesions/ fibrous plaque)-

  • Most severely affected is the abdominal aorta.
  • Involves iliac, femoral, carotid, coronary & cerebral arteries.
  • Superficial luminal part of the fibrous cap (convex) composed by smooth muscle cells.
  • Cellular area under fibrous cap composed of macrophages, foam cells, lymphocytes.
  • Deeper central soft core consists of cholesterol clefts, fibrin, necrotic debris & lipid- laden foam cells.

4. Complicated plaques-

  • Calcification- occurs more commonly in advanced athermatous plaques.
  • Ulceration
  • Thrombosis- superimposed thrombi
  • Haemorrhage
  • Blood vessels affected by atherosclerosis- abdominal aorta (most commonly), Circle of Willis (least commonly affected)
Don’t Forget to Solve all the previous Year Question asked on Atherosclerosis

Module Below Start Quiz

Atherosclerosis

Atherosclerosis

Q. 1 All will predispose to atherosclerosis except:

 A

Homocystinemia

 B

Fibrinogen

 C

Calcium

 D

Lipoprotein A

Q. 1

All will predispose to atherosclerosis except:

 A

Homocystinemia

 B

Fibrinogen

 C

Calcium

 D

Lipoprotein A

Ans. C

Explanation:

Q. 2

Atherosclerosis in the coronary circulation most commonly affects –

 A

Left anterior descending artery

 B

Left circumflex

 C

Right coronary

 D

All of the above

Q. 2

Atherosclerosis in the coronary circulation most commonly affects –

 A

Left anterior descending artery

 B

Left circumflex

 C

Right coronary

 D

All of the above

Ans. A

Explanation:

Ans. is ‘a’ i.e., Left anterior descending artery


Q. 3

In atherosclerosis, increased LDL in monocyte macrophage due to –

 A

LDL receptors on macrophage

 B

LDL receptors on macrophage

 C

Lipids in LDL’get oxidized

 D

Lipids in LDL’get oxidized

Q. 3

In atherosclerosis, increased LDL in monocyte macrophage due to –

 A

LDL receptors on macrophage

 B

LDL receptors on macrophage

 C

Lipids in LDL’get oxidized

 D

Lipids in LDL’get oxidized

Ans. C

Explanation:

Ans. is ‘c’ i.e., Lipids in LDL gets oxidized

Quiz In Between


Q. 4

All of the following are risk factors for atherosclerosis except :

 A Increased waist – hip ratio

 B

Hyperhomocysteinemia

 C

Decreased fibrinogen levels

 D

Decreased HDL levels

Q. 4

All of the following are risk factors for atherosclerosis except :

 A Increased waist – hip ratio

 B

Hyperhomocysteinemia

 C

Decreased fibrinogen levels

 D

Decreased HDL levels

Ans. C

Explanation:

Answer is C (Decreased fibrinogen levels)

Increased levels of .fibrinogen (and not decreased fibrinogen levels) are associated with increased risk of atherosclerosis.

  • Fibrinogen Levels

‘Fibrinogen levels correlate with coronary risk and provide information regarding coronary risk independent of lipoprotein profile. Elevated fibrinogen levels might promote a thrombotic diathesis’.

  • Waist Hip Ratio : This refers to a characteristic ‘male’ distribution of adipose tissue i.e. excess of fat in the abdomen compared with that in hips.

`An elevated waist/hip ratio has been associated with symptomatic cardiovascular disease and cerebrovascular disease in both men and women. – Pubmed (NCBI – website)

Hyperhomocvsteinemia and low HDL levels are known risk factors for Atherosclerosis (as depicted in the following table).

Major risk Factors for Atherosclerosis

  • Cigarette smoking
  • Hypertension (BP > 140/90mm/hg) or (on Antihypertensive medication)
  • Low HDL cholesterol
  • Diabetes mellitus
  • Family history of CHD
  • Age (Men > 45 years; Women > 55 years)
  • Life style risk factors Obeity (BMI > 30 kg/m2)

Physical inactivity Atherogenic diet

Emerging risk factors

  • Lipoprotein (a)
  • Homocystine             •
  • Prothrombotic factors (Fibrinogen)
  • Pro inflammatory factors
  • Impaired fasting glucose
  • Subcl inical atherogenesis

Q. 5 The amino acid which is associated with atherosclerosis is :

 A

Lysine

 B

Homocysteine

 C

Cysteine

 D

Alanine

Q. 5

The amino acid which is associated with atherosclerosis is :

 A

Lysine

 B

Homocysteine

 C

Cysteine

 D

Alanine

Ans. B

Explanation:

Answer is B (Homocysteine)

  • There is a strong positive correlation between atherosclerosis and circulating levels of Homocysteine’
  • Hyperhomocysteinemia has been most consistently linked with atherosclerosis and coronary thrombotic events
  • “Patient with clinical and angiographic evidence of coronary artery disease tend to have higher levels of plasma homocysteine. The relationship has not been extended to cerebrovascular and peripheral vascular disease”- CMDT
  • “A large body of literature suggests a relationship between hyperhomocysteinemia and coronary events. Several mutations in the enzymes involved in homocysteine accumulation correlate to thrombosis and (in some studies) coronary risk”
  • An increase of 5 micromol / L of homocysteine in serum elevates the risk of coronary artery disease by as much as cholesterol increase of 20 mg /dl.
  • Homocysteine interacts with lysyl residues of collagen interfering with collagen cross linking.
  • It forms homocysteine thiolactone, a highly reactive free radical which thiolates LDL particles.
  • These particles tend to aggregate, are endocytosed by macrophages and increase the tendency for atherogenesis.
  • Providing adequate quantity of pyridoxine, vitamin B12 and folic acid will keep homocysteine in blood in normal levels.
  • Maternal hyperhomocysteinemia is known to increase the chances of neural tube defects in foetus. So, high doses of folic acid are advised in pregnancy.

Q. 6 The most important modifiable risk factor for atherosclerosis is:

 A

Hyperlipidemia

 B

Diabetes mellitus

 C

Cigarette Smoking

 D

Hypertension

Q. 6

The most important modifiable risk factor for atherosclerosis is:

 A

Hyperlipidemia

 B

Diabetes mellitus

 C

Cigarette Smoking

 D

Hypertension

Ans. C

Explanation:

Answer is C (Cigarette Smoking)
Cigarette smoking is the single most important modifiable risk factor for atherosclerosis.

  • Smoking is the single most important modifiable risk factor for the development of Peripheral Artery Disease (PAD)
  • Smoking cessation is the single most important target Pr coronary artery disease (CAD) Prevention
  • Hypertension continues to be the most important of all modifiable risk factors for stroke

Quiz In Between


Q. 7 Which of the following statements about Atherosclerosis is true:

 A

Intake of Unsaturated Fatty Acids is associated with decreased risk

 B

Extent of lesions in veins is similar as that in arteries

 C

Thoracic Aorta is more commonly involved than abdominal aorta

 D

Hypercholesterolemia alone does not increase the risk of atherosclerosis per se

Q. 7

Which of the following statements about Atherosclerosis is true:

 A

Intake of Unsaturated Fatty Acids is associated with decreased risk

 B

Extent of lesions in veins is similar as that in arteries

 C

Thoracic Aorta is more commonly involved than abdominal aorta

 D

Hypercholesterolemia alone does not increase the risk of atherosclerosis per se

Ans. A

Explanation:

Answer is A (Intake of Unsaturated Fatty Acids is associated with decreased risk)

The maximal benefit is observed with Omega 3 Poly-unsaturated Fatty Acids, however Mono-unsaturated Fatty Acids also have consistent anti-atherosclerotic benefits and both Poly-unsaturated Fatty Acids (PUFA) and Mono­unsaturated Fatty Acids (MUFA) are considered Cardioprotective Fatty Acids.

Hypercholestoremia alone may increase the risk of Atherosclerosis

`Hyperlipidemia and more specifically hypercholesterolemia is a major risk factor lb,. atherosclerosis. Even in the absence of other factors, hypercholesterolemia is sufficient to stimulate lesion development’. – Robbins 8th/497 Extent of Athrosclerosis is more severe in arteries than in veins

Atherosclerosis is always severe in areas where pressure and velocity are high (as in arteries) in contrast to areas where pressure and velocity are low (as in veins).

‘Overall atherosclerosis is more severe in high-pressure arteries than in pulmonary arteries with lower blood pressure. It is least severe in veins where pressure and velocity are lowest’ – ‘Pan – Vascular Medicine’ by Topol (2002)/90 Abdominal Aorta is more commonly involved than Thoracic Aorta

`Abdominal Aorta is more commonly involved than Thoracic Aorta. Within the abdominal aorta lesions tend to be more prominent around the ostia’ – `Med Essentials’ (Kaplan Publishing) 2007/249

`In the systemic circulation  severity is accentuated in the abdominal aorta and large arteries of the lower limb where pulse wave reflection and summation effect elevate the pulse and systolic pressures. The disease is more severe in large  rather than small vessels indicating the importance of mural tension and Reynolds number both of which are proportional to radius increasing the likelihood and severity of effects of blood flow disturbance at arterial forks, junctions and curvatures’.- ‘Pan Vascular Medicine’


Q. 8

True about atherosclerosis ‑

 A

Chronic inflammatory disorder of vessel wall

 B

Not lead to complications of vessel wall

 C

Thoracic aorta more than abdominal aorta

 D

Atherosclerostic plaques do not demonstrate neovascularization

Q. 8

True about atherosclerosis ‑

 A

Chronic inflammatory disorder of vessel wall

 B

Not lead to complications of vessel wall

 C

Thoracic aorta more than abdominal aorta

 D

Atherosclerostic plaques do not demonstrate neovascularization

Ans. A

Explanation:

Ans. is ‘a’ i.e., Chronic inflammatory disorder of vessel wall

Facts about atherosclerosis

Is a chronic inflammatory and healing response of the arterial wall to endothelial injury.

Atherosclerosis progresses in the following sequence:

Endothelial injury and dysfunction → Accumulation of lipoproteins (mainly LDL) Monocyte adhesion to the endothelium, followed by migration into the intima and transformation into macrophages and foam cells → Platelet adhesion factor release from activated platelets, macrophages, and vascular wall cells → Smooth muscle cell proliferation, extracellular matrix production, and recruitment of T cells → Lipid accumulation both extracellularly and within cells (macrophages and smooth muscle cell).

In descending order, the most extensively involved vessels are the lower abdominal aorta, the coronary arteries, the popliteal arteries, the internal carotid arteries, and the vessels of the circle of Willis. In humans, the abdominal aorta is typically involved to a much greater degree than the thoracic aorta.



Q. 9

Foam cells in atherosclerosis contain lipid in the form of ‑

 A

Oxidized LDL

 B

Reduced LDL

 C

Oxidized VLDL

 D

Reduced VLDI

Q. 9

Foam cells in atherosclerosis contain lipid in the form of ‑

 A

Oxidized LDL

 B

Reduced LDL

 C

Oxidized VLDL

 D

Reduced VLDI

Ans. A

Explanation:

Ans. is ‘a’ i.e., Oxidized LDL

Morphology of atherosclerotic plaque

There are three major components of an atherosclerotic plaques :-

i) Cells : Smooth muscle cell and macrophages are the major cells with some contribution from foam cells (lipid-laden macrophages), and lymphocytes. Advanced atherosclerotic plaque may lack smooth muscles as smooth muscle cells undergo apoptosis.

ii) Extracellular matrix : Collagen, elastic fibers, proteoglycans.

iii) Lipids : Both intracellular and extracellular, with cholesterol and cholesterol ester being the major lipids.

Quiz In Between


Q. 10 Following are the modifiable risk factors of atherosclerosis except ‑

 A

Physical inactivity

 B

Obesity

 C

Diabetes

 D

Hypertension

Q. 10

Following are the modifiable risk factors of atherosclerosis except ‑

 A

Physical inactivity

 B

Obesity

 C

Diabetes

 D

Hypertension

Ans. B

Explanation:

Ans. is ‘b’ i.e., Obesity


Q. 11

True about the basic structure of atherosclerosis plaque is ‑

 A

Concave part formed by fibrous cap

 B

Convex part formed by tunica media of the vessel

 C

Convex part formed by fibrous cap

 D

Necrotic core contains collagen, elastin and proteoglycans

Q. 11

True about the basic structure of atherosclerosis plaque is ‑

 A

Concave part formed by fibrous cap

 B

Convex part formed by tunica media of the vessel

 C

Convex part formed by fibrous cap

 D

Necrotic core contains collagen, elastin and proteoglycans

Ans. C

Explanation:

Ans. is ‘c’ i.e., Convex part formed by fibrous cap

  • The convex part is formed by the fibrous cap, which consists of smooth muscle cells, macrophages, foam cells, lymphocytes, collagen, elastin and proteoglycans.
  • The central necrotic core is formed of cell debris, cholesterol crystals, foam cells and calcium.
  • The concave part is formed by the tunica media of the vessel

Q. 12 Atherosclerosis initiation by fibroblast plaque is mediated by injury to ‑

 A

Smooth muscle

 B

Media

 C

Adventitia

 D

Endothelium

Q. 12

Atherosclerosis initiation by fibroblast plaque is mediated by injury to ‑

 A

Smooth muscle

 B

Media

 C

Adventitia

 D

Endothelium

Ans. D

Explanation:

Ans. is ‘d’ i.e., Endothelium

  • The most acceptable hypothesis for the pathogenesis of atherosclerosis is “the response to injury hypothesis”.
  • According to this hypothesis, atherosclerosis is a chronic inflammatory response of the arterial wall initiated by injury to endothelium.

Pathogenesis of atherosclerosis

  • Following stages occurs in the pathogenesis of Atherosclerosis:
  • Endothelial injury
  • Earliest stages of the development of atherosclerosis are mediated by the inflammatory cascade.
  • Inflammation mediated injury to endothelium is the cornestone in the development of atherosclerosis.
  • After injury, endothelium is activated and there is increased expression of adhesion molecule-VCAM-1 and
  • there is increased permeability to endothelium.
  • TNF is the major cytokine to induce this expression.

Migration of leukocytes

  • When VCAM-1 is expressed on endothelium, leukocytes adhere to the endothelium.
  • Leukocytes than cross the endothelial barrier and begin to accumulate in subendothelial intimal space.
  • Macrophages engulf LDL cholesterol and form foam cells → formation of earliest lesion, i.e. fatty streak.
  • Macrophages also form oxygen free radicals that cause oxidation of LDL to yield oxidized LDL (modified LDL).
  • Smooth muscle cell migration and proliferation
  • Inflammatory cells in subendothelial intimal space secrete cytokines, mainly PDGF, TGF-ct and FGF which cause migration of smooth muscle cells from media to subendothelial intimal space as well as their proliferation.

Maturation of plaque

  • Smooth muscle cells synthesize extracellular matrix (especially collegen) and convert a fatty streak into a mature fibrofatty atheroma, and contribute to the progressive growth of atherosclerotic lesions.

Q. 13 Identify this lesion in the formation of Atherosclerosis.

 A

Early lesion

 B

Fully developed Atheromatous Plaque

 C

Complicated Plaque

 D

None of the above.

Q. 13

Identify this lesion in the formation of Atherosclerosis.

 A

Early lesion

 B

Fully developed Atheromatous Plaque

 C

Complicated Plaque

 D

None of the above.

Ans. C

Explanation:

Ans:C.)Complicated Plaque
Schematic Evolution of Lesions in Atherosclerosis.
[img id=6454] 
MORPHOLOGIC FEATURES

1. FATTY STREAKS AND DOTS. 

  • Grossly, the lesions may appear as flat or slightly elevated and yellow.
  • They may be either in the form of small, multiple dots, about 1 mm in size, or in the form of elongated, beaded streaks.
  • Microscopically, fatty streaks lying under the endothelium are composed of closely-packed foam cells, lipid containing elongated smooth muscle cells and a few lymphoid cells. 

2. GELATINOUS LESIONS.

  • They are round or oval, circumscribed grey elevations, about 1 cm in diameter.
  • Microscopically, gelatinous lesions are foci of increased ground substance in the intima with thinned overlying endothelium.

3. ATHEROMATOUS PLAQUES.

  • A fully developed atherosclerotic lesion is called atheromatous plaque, also called fibrous plaque, fibrofatty plaque or atheroma.
  • Grossly, atheromatous plaques are white to yellowish white lesions, varying in diameter from 1-2 cm and raised on the surface by a few millimetres to a centimetre in thickness.
  • Cut section of the plaque reveals the luminal surface as a firm, white fibrous cap and a central core composed of yellow to yellow-white, soft, porridgelike material.
  • Microscopically, the following features are invariably present :
  • Superficial luminal part of the fibrous cap is covered by endothelium, and is composed of smooth muscle cells, dense connective tissue and extracellular matrix containing proteoglycans and collagen.
  • Cellular area under the fibrous cap is comprised by a mixture of macrophages, foam cells, lymphocytes and a few smooth muscle cells which may contain lipid.
  • Deeper central soft core consists of extracellular lipid material, cholesterol clefts, fibrin, necrotic debris and lipid laden foam cells.

4. COMPLICATED PLAQUES.

  • Various pathologic changes that occur in fully-developed atheromatous plaques are called the complicated lesions. 
  • These changes include calcification, ulceration, thrombosis, haemorrhage and aneurysmal dilatation.

Quiz In Between



Mitochondrial DNA

Mitochondrial DNA


Mitochondrial DNA (mtDNA)

  • It is a separate genome located in the cytoplasm of nearly all eukaryotic cells
  • Is closede circular, double-stranded, and composed of heavy (H) and light (L) chains or strands.
  • Contains 16,569 bp.
  • Encodes 13 protein subunits of the respiratory chain (of a total of about 67) –
  1. Seven subunits of NADH dehydrogenase (complex I) and Cytochrome b of complex III
  2. Three subunits of cytochrome oxidase (complex IV)
  3. Two subunits of ATP synthase
  • Encodes large (16S) and (12S) mt ribosomal RNAs
  • Encodes 22 mt tRNA molecules
  • Genetic code differs slightly from the standard code –
  1. UGA (standard stop codon) is read as Trp.
  2. AGP and AGG (standard codons for Arg) are read as stop codons,
  • Contains very few untranslated sequences.
  • Nemaline myopathy results due to mutations in mt- DNA
  • Heteroplasmy is the presence of mixture of more than one type of an organelle genome (mt- DNA) within a cell or individual.
  • High mutation rate (5 to 10 times that of nuclear DNA).
  • Comparisons of mtDNA sequences provide evidence about evolutionary origins of primates and other species.
  • High mutation rate occurs due to point mutation and large scale rearrangements.
  • mitochondrial DNA contains no (or very few) introns (i.e. untraslated sequences).

Mitochondrial DNA is always maternally inherited.

  1. Important mitochondrial diseases are mitochondrial encephalomyopathy with lactic aciilosis and stroke like episodes (MELAS),
  2. leber hereditary optic neuropathy, myoclonic epilepsy with ragged-red fibers, leigh syndrome, Pearson syndrome, kearns-sajre syndrome,
  3. chronic progressive external ophthalmoplegia and NARP (neurogenic weakness with ataxia & retinitis pigmentosa).
  • All children from affected mother will inherit the disease but it will not be transmitted from an afiected father to his children

Exam Important

  • Is closede circular, double-stranded, and composed of heavy (H) and light (L) chains or strands.
  • Contains 16,569 bp.
  • Encodes 13 protein subunits of the respiratory chain (of a total of about 67)
  • Nemaline myopathy results due to mutations in mt- DNA
  • Heteroplasmy is the presence of mixture of more than one type of an organelle genome (mt- DNA) within a cell or individual.
  • High mutation rate (5 to 10 times that of nuclear DNA).
  • Comparisons of mtDNA sequences provide evidence about evolutionary origins of primates and other species.
  • High mutation rate occurs due to point mutation and large scale rearrangements.
  • mitochondrial DNA contains no (or very few) introns (i.e. untraslated sequences).
  • Mitochondrial DNA is always maternally inherited.
  • All children from affected mother will inherit the disease but it will not be transmitted from an afiected father to his children
Don’t Forget to Solve all the previous Year Question asked on Mitochondrial DNA

Module Below Start Quiz

Mitochondrial DNA

Mitochondrial DNA

Q. 1 Mitochondrial DNA is:

 A

Closed circular

 B

Nicked circular

 C

Linear

 D

Open circular

Q. 1

Mitochondrial DNA is:

 A

Closed circular

 B

Nicked circular

 C

Linear

 D

Open circular

Ans. A

Explanation:

Mitochondrial DNA is a closed circular double helix molecule which is transmitted maternally and is found within cells in multiple copies.
It contains 37 genes. All of these genes are essential.

Ref: Ganong’s Review of Medical Physiology, 22nd Edition, Page 10

 


Q. 2

All of the following states are TRUE regarding mitochondrial DNA (mtDNA) disease, EXCEPT:

 A

mtDNA contains only 37 genes

 B

Cause Leber hereditary optic neuropathy

 C

Mitochondrial genome is maternally transmitted

 D

Heteroplasmy is a feature of mtDNA

Q. 2

All of the following states are TRUE regarding mitochondrial DNA (mtDNA) disease, EXCEPT:

Cause Leber hereditary optic neuropathy

 A

mtDNA contains only 37 genes

 B
 C

Mitochondrial genome is maternally transmitted

 D

Heteroplasmy is a feature of mtDNA

Ans. D

Explanation:

All human cells contain two genomes: one in the nucleus and one in the mitochondria. 

  • The mitochondrial genome contains only 37 genes
  • Genome is maternally transmitted. 
The ratio of genetically aberrant to normal mitochondria transmitted can vary during mitosis and through generations—a situation known as heteroplasmy. People with entirely faulty mitochondria (homoplasmy) or a large proportion of faulty mitochondria may develop a mtDNA disease. 
 
These are clinically heterogeneous but usually severe diseases resulting from defects in energy production and include deafness, blindness, diabetes, loss of skills, and heart and liver failure. About 1 in 400 people has a maternally inherited mtDNA mutation.
 
Ref: Ethics of mitochondrial gene replacement: from bench to bedside, Annelien L Bredenoord ; BMJ 2010;341:c6021

Q. 3 True about mitochondrial DNA

 A

UGA codes for tryptophan

 B

Codes for 13 protein

 C

Circular double stranded DNA

 D

All

Q. 3

True about mitochondrial DNA

 A

UGA codes for tryptophan

 B

Codes for 13 protein

 C

Circular double stranded DNA

 D

All

Ans. D

Explanation:

A, B,C i.e. UGA codes for tryptophan, Codes for 13 protein, Circular double stranded DNA, Mitrochondrial disease occur due to Point Mutations and Large-Scale Rearrangements

Quiz In Between


Q. 4

Mitochondrial DNA is:

 A

Paternally inherited

 B

Maternally inherited

 C

Horizontal inheritance

 D

Vertical inheritance

Q. 4

Mitochondrial DNA is:

 A

Paternally inherited

 B

Maternally inherited

 C

Horizontal inheritance

 D

Vertical inheritance

Ans. B

Explanation:

B i.e. Maternally inherited


Q. 5

Mitochondrial DNA (mt- DN(A) is known for all except –

 A

Maternal inheritance

 B

Heteroplasmy

 C

Leber hereditary optic neuropathy is the prototype

 D

Nemaline myopathy results due to mutations in mt- DNA

Q. 5

Mitochondrial DNA (mt- DN(A) is known for all except –

 A

Maternal inheritance

 B

Heteroplasmy

 C

Leber hereditary optic neuropathy is the prototype

 D

Nemaline myopathy results due to mutations in mt- DNA

Ans. D

Explanation:

Ans. is ‘d’ i.e., Nemaline myopathy results due to mutations in mt- DNA

o Nemaline myopathy is not a mitochondria] disorder.

o Mitochondrial DNA is always maternally inherited.

o Heteroplasmy is the presence of mixture of more than one type of an organelle genome (mt- DNA) within a cell or individual. It is a factor for the severity of mitochondrial disease, since every eukaryotic cell contains many hundreds of copies of mt- DNA; it is possible and indeed very frequent for mutations to affect only some of the copies, while the remaining ones are unaffected.


Q. 6 Function of mitochondrial DNA ‑

 A

Encodes proteins of cell membrane

 B

Encodes proteins of respiratory chain

 C

Helps in cell replication

 D

Formation of rRNA

Q. 6

Function of mitochondrial DNA ‑

 A

Encodes proteins of cell membrane

 B

Encodes proteins of respiratory chain

 C

Helps in cell replication

 D

Formation of rRNA

Ans. B

Explanation:

 
Human mitochondria contain two to ten copies of a small circular double-stranded DNA molecule that makes up approximately 1% of total cellular DNA.
The majority of the peptides in mitochondria (about 54 out of 67) are coded by nuclear genes.
The rest are coded by genes found in mitochondrial (mt) DNA
This mtDNA codes for mt ribosomal and transfer RNAs and for 13 proteins that play key roles in the respiratory chain.

Quiz In Between



External Ear- Pinna / Auricle

EXTERNAL EAR- Pinna / Auricle


AURICLE OR PINNA

  • The entire pinna (except its lobule and outer part of external acoustic canal) is made up of a framework of a single piece of yellow elastic cartilage
  • There is no cartilage between the tragus and crus of the helix – incisura terminalis
  • An incision made in this area will not cut through the cartilage – used for endaural approach in surgery of external auditory canal and mastoid.
  • Skin over the pinna is closely adherent to the perichondrium on the lateral surface while it is loosely attached on the medial surface.
  • Incisura terminalis is the area between the tragus and crus of helix

NERVE SUPPLY OF PINNA

Greater auricular nerve(C2C3)

  • Major part of the skin of Pinna is supplied by Greater Auricular nerve.
  • The great auricular supplies the whole of the cranial (medial /back) surface of auricle  and the posterior part of lateral (front) surface (helix, anthelix, and lobule).

Lesser occipital nerve(C2)

  • Auriculotemporal nerve (mandibular branch of 5th nerve)
  • Auricular branch of Vagus (Arnold’s N)
  • Facial nerve

DEVELOPMENT OF PINNA

  • Ear pinna develops from Ecdoderm.
  • Pinna is formed at birth.
  • The auricle starts to develop when 6 hillocks appear around the first pharyngeal groove(cleft), which lies between the first and the second branchial arches.
  • First branchial cleft is the precursor of external auditory canal.
  • Around the sixth week of embryonic life, a series of six tubercles appear around the first branchial cleft.
  • They progressively coalesce to form the auricle/Pinna. Branchial clefts are ectodermal in origin.

LYMPHATIC DRAINAGE OF PINNA

  • Concha, Tragus, Fossa triangularis-  Pre auricular and parotid nodes
  • Lobule and antitragus  –  Infra-auricular nodes
  • Helix and anti-helix   – Post auricular nodes, deep jugular and spinal accessory nodes

CLINICAL SIGNIFICANCE

  • Keratocanthoma-Flesh-colored, dome-shaped, on the  ear lobe with  central keratin-filled crater and surrounded by  proliferating squamous epithelium. This  lesion  regresses over/  the  next month   and   then   disappears.
  • Malignant Otitis externa-Ear pain and drainage in an elderly diabetic patient must raise concern about malignant external otitis.It is associated with tenderness in the pinna and  swelling and inflammation of the external auditory meatus.This infection is almost always caused by P. aeruginosa.
  • Ramsay Hunt Syndrome-A clinical condition characterised by a facial palsy and often associated with facial pain and the appearance of vesicles on the canal and pinna.Vertigo and sensor neural hearing loss (VIIIth nerve) may occur.
  • Boil can occur on Pinna.
  • Acute mastoiditis is characterized by Clouding of Mastoid Air cells,Deafness and Outward and downward deviation of the pinna.
  • Darwin’s tubercle (or auricular tubercle) is a congenital earcondition which often presents as a thickening on the helix at the junction of the upper and middle thirds.
  • Boxer’s ear is Hematoma of Auricle
    • It is the collection of blood between the auricular cartilage and its perichondrium.
    • It is often the result of blunt trauma seen in boxers, wrestlers and rugby players, so called Boxer’s ear.
    • Extravasated blood may clot and then organize resulting in typical deformity of cauliflower ear.

Exam Important

  • The entire pinna (except its lobule and outer part of external acoustic canal) is made up of a framework of a single piece of yellow elastic cartilage
  • Pinna develops from the cleft of  1st and 2nd pharyngeal arch
  • Ear pinna develops from Ectoderm
  • Skin over the pinna is closely adherent to the perichondrium on the lateral surface while it is loosely attached on the medial surface.
  • Greater auricular nerve(C2C3)-Supplies Major Part of Pinna
  • Sensory nerve supply of pinna is Mandibular nerve

Cauliflower ear (boxer’s ear, wrestler’s ear)

  1. Is an acquired deformity of the outer ear.
  2. In this injury, the ear can shrivel up and fold in on itself and appear pale, giving it a cauliflower-like appearance, hence the term cauliflower ear.
  3. Wrestlers, boxers and martial artists in particular are susceptible to this type of injury.
  4. When the ear is struck and a blood clot develops under the skin, or the skin is sheared from the cartilage, the connection of the skin to the cartilage is disrupted.

 

Don’t Forget to Solve all the previous Year Question asked on EXTERNAL EAR- Pinna / Auricle

Module Below Start Quiz

External Ear- Pinna / Auricle

Pinna / Auricle

Q. 1

Ear pinna develops from ____________

 A

Ectoderm

 B Endoderm

 C

Mesoderm

 D

All 

Q. 1

Ear pinna develops from ____________

 A

Ectoderm

 B

Endoderm

 C

Mesoderm

 D

All 

Ans. A

Explanation:

 Ans:A.)Ectoderm

  • First branchial cleft is the precursor of external auditory canal.
  • Around the sixth week of embryonic life, a series of six tubercles appear around the first branchial cleft
  • Branchial clefts are ectodermal in origin.

Q. 2

The cartilage present in Ear Pinna is:

 A Hyaline 

 B

Elastic

 C

Fibrocartilage

 D

None

Q. 2

The cartilage present in Ear Pinna is:

 A

Hyaline 

 B

Elastic

 C

Fibrocartilage

 D

None

Ans. B

Explanation:

Elastic Cartilage 


Q. 3

Which of the following is formed at birth?

 A

Mastoid process

 B

Pinna

 C

Otic capsule

 D

Secondary areola

Q. 3

Which of the following is formed at birth?

 A

Mastoid process

 B

Pinna

 C

Otic capsule

 D

Secondary areola

Ans. B

Explanation:

Quiz In Between


Q. 4

The presence of white fibrocartilage is a feature of all of the following, EXCEPT:

 A

Acetabular labrum

 B

Intervertebral disc

 C

Meniscus

 D

Pinna

Q. 4

The presence of white fibrocartilage is a feature of all of the following, EXCEPT:

 A

Acetabular labrum

 B

Intervertebral disc

 C

Meniscus

 D

Pinna

Ans. D

Explanation:

Pinna is composed of a thin plate of yellow elastic cartilage, covered with integument
It is connected to the surrounding parts by ligaments and muscles; and to the commencement of the external acoustic meatus by fibrous tissue.


Q. 5

All are types of elastic cartilages, EXCEPT:

 A

Pinna

 B

Epiglottis

 C

Tip of arytenoid

 D

Thyroid cartilage

Q. 5

All are types of elastic cartilages, EXCEPT:

 A

Pinna

 B

Epiglottis

 C

Tip of arytenoid

 D

Thyroid cartilage

Ans. D

Explanation:

Cartilage is a fom of connective tissue, which contains a gel like matrix embedded with cells. They are of three types: Hyaline cartilage, elsatic cartilage and fibrous cartilage.
Elastic cartilage consists of numerous yellow elastic fibres embedded in a matrix which explains its flexibility. It is seen in auricle of the ear, external auditory meatus, auditory tube and the epiglottis.

Larynx is composed of several cartilages. The thyroid cartilage, cricoid cartilage, arytenoid cartilages, corniculate cartilages and cuneiform cartilages are all composed of hyaline cartilage.

Ref: Snell’s, Clinicql Anatomy, 7th Edition, Page 39


Q. 6

Fibrocartilage is present in all, EXCEPT:

 A

Pinna

 B

Symphysis pubis

 C

Intervertebral disc

 D

Menisci of knee joint

Q. 6

Fibrocartilage is present in all, EXCEPT:

 A

Pinna

 B

Symphysis pubis

 C

Intervertebral disc

 D

Menisci of knee joint

Ans. A

Explanation:

Fibrocartilage is a white opaque structure due to dense collage fibres (type I and II).
When a fibrous tissue is subjected to pressure it is replaced by fibrocartilage.
It is seen in joints, symphysis, intervertebral discs, menisci and labra (shoulder joint and hip joint).
Pinna is a type of elastic cartilage. Elastic cartilages are seen at sites concerned with production or reception of sounds eg external acoustic meatus (lateral part), auditory tube and epiglottis.

Quiz In Between


Q. 7

Sensory nerve supply of pinna is :

 A

Mandibular nerve

 B

Maxillary nerve

 C

Facial nerve

 D

Abducent nerve

Q. 7

Sensory nerve supply of pinna is :

 A

Mandibular nerve

 B

Maxillary nerve

 C

Facial nerve

 D

Abducent nerve

Ans. A

Explanation:

Auriculotemporal nerve, a branch of mandibular nerve (V3)(2 supplies the external acoustic meatus, external surface of auricle above this, skin of temporal region and TM joint.


Q. 8

Major part of the skin of pinna is supplied by:

 A

Aurculo temporal nerve

 B

Auricular branch of the vagus

 C

Posterior auricular nerve

 D

Great auricular nerve

Q. 8

Major part of the skin of pinna is supplied by:

 A

Aurculo temporal nerve

 B

Auricular branch of the vagus

 C

Posterior auricular nerve

 D

Great auricular nerve

Ans. D

Explanation:

D i.e. Great auricular


Q. 9

All of the following nerves supply auricle and extrernal meatus except:

 A

Trigeminal nerve

 B

Glossopharyngeal nerve

 C

Facial nerve

 D

Vagus nerve

Q. 9

All of the following nerves supply auricle and extrernal meatus except:

 A

Trigeminal nerve

 B

Glossopharyngeal nerve

 C

Facial nerve

 D

Vagus nerve

Ans. B

Explanation:

Quiz In Between


Q. 10

Which of the following nerves has no sensory supply to the auricle?

 A

Lesser occipital nerve

 B

Greater auricular nerve

 C

Auricular branch of vagus nerve

 D

Tympanic branch of glossopharyngeal nerve

Q. 10

Which of the following nerves has no sensory supply to the auricle?

 A

Lesser occipital nerve

 B

Greater auricular nerve

 C

Auricular branch of vagus nerve

 D

Tympanic branch of glossopharyngeal nerve

Ans. D

Explanation:

Q. 11

Skin over pinna is fixed:

 A

Firmly on both sides

 B

Loosely on medial side

 C

Loosely on lateral side

 D

Loosely on both side

Q. 11

Skin over pinna is fixed:

 A

Firmly on both sides

 B

Loosely on medial side

 C

Loosely on lateral side

 D

Loosely on both side

Ans. B

Explanation:

Skin over the pinna is closely adherent to the perichondrium on the lateral surface while it is loosely attached on the medial surface.


Q. 12

Major part of the skin of pinna is supplied by:

 A

Auriculotemporal nerve

 B

Auricular branch of vagus

 C

Lesser occipital nerve

 D

Greater auricular nerve

Q. 12

Major part of the skin of pinna is supplied by:

 A

Auriculotemporal nerve

 B

Auricular branch of vagus

 C

Lesser occipital nerve

 D

Greater auricular nerve

Ans. D

Explanation:

Ans. is d i.e. greater auricular nerve

Quiz In Between


Q. 13

Auricle of the ear is made of:       

 A

Hyaline cartilage

 B

Fibrocartilage

 C

Elastic cartilage

 D

None of the above

Q. 13

Auricle of the ear is made of:       

 A

Hyaline cartilage

 B

Fibrocartilage

 C

Elastic cartilage

 D

None of the above

Ans. C

Explanation:

 
There are three types of cartilage:

  • Hyaline cartilage has a high proportion of amorphous matrix. Throughout childhood and adolescence, it plays an important part in the growth in length of long bones (epiphyseal plates are composed of hyaline cartilage). It has a great resistance to wear and covers the articular surfaces of nearly all synovial joints.
  • Fibrocartilage has many collagen fibers embedded in a small amount of matrix and is found in the discs within joints (e.g., the temporomandibular joint, sternoclavicular joint, and knee joint) and on the articular surfaces of the clavicle and mandible. Fibrocartilage, if damaged, repairs itself slowly in a manner similar to fibrous tissue elsewhere.
  • Elastic cartilage possesses large numbers of elastic fibers embedded in matrix. It is flexible and is found in the auricle of the ear, the external auditory meatus, the auditory tube, and the epiglottis. Elastic cartilage, if damaged, repairs itself with fibrous tissue.

Q. 14 Cauliflower ear seen in:

 A

Hematoma of the auricle

 B

Carcinoma of the auricle

 C

Fungal infection of the auricle

 D

Congenital deformity

Q. 14

Cauliflower ear seen in:

 A

Hematoma of the auricle

 B

Carcinoma of the auricle

 C

Fungal infection of the auricle

 D

Congenital deformity

Ans. A

Explanation:

Cauliflower ear (boxer’s ear, wrestler’s ear) is an acquired deformity of the outer ear.

In this injury, the ear can shrivel up and fold in on itself and appear pale, giving it a cauliflower-like appearance, hence the term cauliflower ear.

Wrestlers, boxers and martial artists in particular are susceptible to this type of injury. When the ear is struck and a blood clot develops under the skin, or the skin is sheared from the cartilage, the connection of the skin to the cartilage is disrupted.


Q. 15 A 12 year old presents with fever, unilateral post auricular pain, mastoid bulging displacing the pinna forward and outwards with loss of bony trabeculae. This patient has history of chronic persistent pus discharge from same ear. Treatment of choice is‑

 A

Antibiotics only

 B

Incision and drainage

 C

Antibiotics, incision and drainage

 D

Mastoidectomy with incision, drainage and antibiotics

Q. 15

A 12 year old presents with fever, unilateral post auricular pain, mastoid bulging displacing the pinna forward and outwards with loss of bony trabeculae. This patient has history of chronic persistent pus discharge from same ear. Treatment of choice is‑

 A

Antibiotics only

 B

Incision and drainage

 C

Antibiotics, incision and drainage

 D

Mastoidectomy with incision, drainage and antibiotics

Ans. D

Explanation:

Ans: D. Mastoidectomy with incision, drainage and antibiotics 

The patient is presenting with features of postauricular subperiosteal abscess. Treatment for this is antibiotics along with drainage of abscess and cortical mastoidectomy.

This patient has developed this abscess as a complication of CSOM (History of chronic ear discharge) for which he requires meastoidectomy.

Quiz In Between



Von Recklinghausen’s Disneurofibromatosisease

(VON RECKLINGHAUSEN’S DISNEUROFIBROMATOSISEASE)


NEUROFIBROMATOSIS (VON RECKLINGHAUSEN’S DISEASE)

  • Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes..

Neurofibromatosis type 1

  • The clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses:
  • Six or more café-au-lait spots or hyperpigmented macules =5 mm in diameter in prepubertal children and 15 mm postpubertal
  • Axillary or inguinal freckles (>2 freckles)
  • Two or more typical neurofibromas or one plexiform neurofibroma
  • Optic nerve glioma
  • Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist
  • Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis
  • First-degree relative (eg, mother, father, sister, brother) with NF1.

Neurofibromatosis type 2 

  • It is a genetic disorder marked by the predisposition to develop a variety of tumors of the central and peripheral nervous systems. In contrast to neurofibromatosis type 1 (NF1), NF2 produces a paucity of cutaneous manifestations.
  • Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios :
  • Bilateral vestibular schwannomas
  • A first degree relative with NF2 and Unilateral vestibular schwannoma or Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
  • Unilateral vestibular schwannoma and Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
  • Multiple meningiomas and Unilateral vestibular schwannoma or Any two of: schwannoma, glioma, neurofibroma, cataract.

Difference b/w Schwannoma & Neurofibroma

Schwannoma (or Neurilemmoma)

  • are true encapsulated neoplasm composed of schwann cells.
  • It compresses the nerve of origin.
  • There is a plane of cleavage separating the nerve from the mass.

Neurofibroma

  • are unencapsulated benign neoplasm of schwann cells and fibroblasts.
  • The tumor involves the nerve. Grossly it appears as expanded nerve.
  • It is composed of mixture of schwann cell and fibroblast and contains axons within it.
  • It can not be demarcated from the nerve therefore can not be removed without sacrificing the nerve.

Difference between NF-1 and NF-2:

Feature

NF1

NF2

Mutation

NFl gene on chromosome 17 causes

NF2 gene on chromosome 22q.

von Recklinghausen’s disease. The NFl

NF2 encodes a protein called

gene is a tumor-suppressor gene; it encodes a protein, neurofibromin

neurofibromin 2, schwannomin,or merlin

Cutaneous feat

cutaneous neurofibromas, pigmented

lesions of the skin called café au lait

spots, freckling in non-sun-exposed

areas such as the axilla, hamartomas

of the iris termed Lisch nodules, and

pseudoarthrosis of the tibia

Multiple café au lait spots and

peripheral neurofibromas occur

rarely                                                   

Complications

Aqueductal stenosis with

hydrocephalus, scoliosis, short stature,

hypertension, epilepsy, and mental

retardation may also occur.

A characteristic type of cataract,

juvenile posterior subcapsular

lenticular opacity, occurs in NF2

Neurological features

Patients with NF1 are at increased

risk of developing nervous

system neoplasms, including plexiform

neurofibromas, optic pathway gliomas

ependymomas, meningiomas

astrocytomas, and

pheochromocytomas. Neurofibromas

may undergo secondary malignant

degeneration and become

sarcomatous.

NF2 is characterized by the

development of bilateral vestibular

schwannomas in >90% of

individuals who inherit the gene

Patients with NF2 also have a

predisposition for the development

of meningiomas, gliomas, and

schwannomas of cranial and spinal

nerves

Exam Important

  • Neurofibromatosis shows which of the Autosomal Dominant type of inheritance.
  • Neurofibromatosis may be associated with Cataract, Scoliosis, Hypertrophy of limb and Neurofibroma.
  •  Neurofibromatosis-1 is asociated with family history, Optic Glioma and Axillary Freckles.
  • Optic Gliomas are the most common intracranial tumors of Neurofibromatosis 1.
  • Neurofibromatosis type 2 is associated with Bilateral Acoustic Neuroma, Cafe-au-lait spots, Axillary Freckling, Lisch Nodule, Meningioma
  • Gene for NF-2 is located on chromosome 22.
  • Neurofibroma are unencapsulated and needs to be resected along the nerve fibres.
  • Neurofibromatosis presents as Elephantiasis neuromatodes, Plexiform neuroma,Von Recklinghausen’s disease.
  • Plexiform neurofibromatosis commonly affects Trigeminal Nerve.
  • Neurofibromatosis may be associated with Pheochromocytoma.
  • The pathognomic sign of Neurofibromatosis is Axillary Freckling.
  • Scoliosisis is the MOST common skeletal manifestation in Type-1 Neurofibromatosis.
  • Juveile Myelomonocytic Leukemia  is the most common tumour associated with Neurofibromatosis -1 (NF-I) in a child.
  • Rib notching,Pseudarthrosis may be seen in Neurofibromatosis.
  • Wide neural foramina is associated with Neurofibromatosis.-I.
  • Ependymomas are commonly associated with Neurofibromatosis-II.
  • A 22-year-old patient, Sreeraj presents with multiple neural tumors, pigmented iris hamartomas, and numerous tan macules on his skin. He informs the physician that his father, as well as one uncle and his paternal grandfather, had a similar condition. This patient likely suffers from Neurofibromatosis.-I.
Don’t Forget to Solve all the previous Year Question asked on (VON RECKLINGHAUSEN’S DISNEUROFIBROMATOSISEASE)

Module Below Start Quiz

Von Recklinghausen’s Disneurofibromatosisease

(VON RECKLINGHAUSEN’S DISNEUROFIBROMATOSISEASE)

Q. 1

All are seen in neurofibromatosis EXCEPT?

 A Meningioma
 B

Lisch nodule

 C Axillary freckling
 D

Shagreen patch

Q. 1

All are seen in neurofibromatosis EXCEPT?

 A Meningioma
 B

Lisch nodule

 C Axillary freckling
 D

Shagreen patch

Ans. D

Explanation:

Shagreen patch REF: Harrison’s 17th ed chapter 374

“Shagreen patch is seen in tuberous sclerosis”

Feature

NF1

NF2

Mutation

NFl gene on chromosome 17 causes

NF2 gene on chromosome 22q.

 

von Recklinghausen’s disease. The NFl

NF2 encodes a protein called

 

gene is a tumor-suppressor gene; it

encodes a protein, neurofibromin

neurofibromin 2, schwannomin,

or merlin

Cutaneous feat              

cutaneous neurofibromas, pigmented

lesions of the skin called café au lait

spots, freckling in non-sun-exposed

areas such as the axilla, hamartomas

of the iris termed Lisch nodules, and

pseudoarthrosis of the tibia                      

Multiple café au lait spots and

peripheral neurofibromas occur

rarely                                                   

Complications

Aqueductal stenosis with

hydrocephalus, scoliosis, short stature,

hypertension, epilepsy, and mental

retardation may also occur.

A characteristic type of cataract,

juvenile posterior subcapsular

lenticular opacity, occurs in NF2

Neurological features

Patients with NF1 are at increased
risk of developing nervous
system neoplasms, including plexiform
neurofibromas, optic pathway gliomas
ependymomas, meningiomas
astrocytomas, and
pheochromocytomas. Neurofibromas
may undergo secondary malignant
degeneration and become

sarcomatous.

 
NF2 is characterized by the
development of bilateral vestibular
schwannomas in >90% of
individuals who inherit the gene
Patients with NF2 also have a
predisposition for the development
of meningiomas, gliomas, and
schwannomas of cranial and spinal

nerves


Q. 2

Neurofibromatosis true all, except ‑

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Q. 2

Neurofibromatosis true all, except ‑

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Ans. A

Explanation:

Autosomal recessive [Ref: Robbin’s 7thle p. 1413]

  • Neurofibromatosis is an inherited disorder
  • It is of two types: ?
  • Neurofibromatosis

– Neurofibromatois II

Genetics of Neurofibromatosis

  • Both the neurofibromas are inherited in an autosomal dominant pattern.
  • The genes for them are located on different chromosome 

         – NF-1—) Neurofibrin gene on chromosome 17
         – NF-2 —) Merlin gene on chromosome 22

NEUROFIBROMATOSIS TYPE I ?

  • Neurofibromatosis is a comparatively common hereditary disorder in which the skin, nevous system, bone, endocrine glands and sometimes other organs are at the sites of a variety of congenital abnormalities often taking the fonn of benign tumours.

. The main feature of neurofibromatosis I is –

(i) Spots of hyperpigmentation

and

(ii)    Cutaneous and subcutaneous neurofibromatous tumours’.

Hyperpigmentation in Neurofibromatosis I takes two forms 😕

a) Cafe – au – lait spots’

.   These are patches of pigmentation and they appear shortly after birth’ and occur anywhere on the body.

.   They are light brown in colour (cafe – au – lait) and do not change in number as the patient ages but they increase in size during puberty.

.   Presence of more than six cafe – au – lait spots > 1.5 cm in size is considered diagnostic of Neurofibromatosis.

b) Freckles’

.   Neurofibromatosis I is also characterized by the presence of Freckles like or diffuse pigmentation of the axillae and other intertriginous areas (groin, under breast) and small round whitish spots. When coupled with cafe au lait patches they are virtually pathogtzomonice of the disease.

ii) Neurofibromas

a) Cutaneous tumours

.   They are situated in the dermis and form discrete soft or, firm papules.

.   They are ,flesh coloured or violaceous and often topped with comedo. When pressed, the soft tumours tend to invaginate through a small opening in the skin giving the feeling of a seedless raisin or a scrotum without a testicle. This phenomenon is spoken of as “button holding”.

b) Subcutaneous tumours

.   They take two forms ?

a)   Firm discrete nodules attached to a nerve.

b) Plexiform neuromase (overgrowth of subcutaneous tissue sometimes reaching enormous size and occur most often in the face, scalp, neck and chest and may cause hideous disfigurement).

Lisch Nodule’?

  • This is another unique .finding of neurofibromatosiso.

.   It is a small whitish spote present in the iris.

Tumours associated with Neurofibromatosis I are

1) Tumours of the CNS

a)  Optic Nerve Gliomao

b)  Non-optic Gliomas (usually low grade astrocytomas)

c)   Nonneoplastic ‘ hamartomatous” lesion

Osborn writes –

“The common CNS tumor in NF-1 is optic nerve glioma occuring in 5 to 15% of casese”

2) Other tumours associated with NF-1

a)  Pheochromocytoma

b)  Rhabdomyosarcoma

c)   leukemia (myeloid leukemia)

d)     Wilms tumour

e) Juvenile Xanthogranuloma


Q. 3

Neurofibromatosis I is most commonly associated with

 A

Brain stern gliomas

 B

Optic pathway glioma

 C

Sub ependymal pilocytic astrocytoma

 D

Glioblastoma multifonne

Q. 3

Neurofibromatosis I is most commonly associated with

 A

Brain stern gliomas

 B

Optic pathway glioma

 C

Sub ependymal pilocytic astrocytoma

 D

Glioblastoma multifonne

Ans. B

Explanation:

Optic pathway Glioma [Ref Diagnostic Neuroadiology; Anne G.Osborn, 1994]

Tumours associated with Neurofibromatosis I are

1) Tumours of the CNS

a) Optic Nerve Gliomao

b) Non-optic Gliomas (usually low grade astrocytomas)

c) Nonneoplastic ” hamartomatous” lesion

Osborn writes ?

“The common CNS tumor in NF-1 is optic nerve glioma occuring in 5 to 15% of cases’)”

2) Other tumours associated with NF-1

a) Pheochromocytoma

b) Rhabdomyosarcoma

c)  leukemia (myeloid leukemia)

d)  Wilms tumour

e)  Juvenile Xanthogranuloma

Quiz In Between


Q. 4 A 22-year-old patient, Sreeraj presents with multiple neural tumors, pigmented iris hamartomas, and numerous tan macules on his skin. He informs the physician that his father, as well as one uncle and his paternal grandfather, had a similar condition. This patient likely suffers from which of the following?

 A

Ependymoma

 B

Huntington disease

 C

Marfan syndrome

 D

Neurofibromatosis type I

Q. 4

A 22-year-old patient, Sreeraj presents with multiple neural tumors, pigmented iris hamartomas, and numerous tan macules on his skin. He informs the physician that his father, as well as one uncle and his paternal grandfather, had a similar condition. This patient likely suffers from which of the following?

 A

Ependymoma

 B

Huntington disease

 C

Marfan syndrome

 D

Neurofibromatosis type I

Ans. D

Explanation:

Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disorder with high penetrance, but variable expressivity. The disease has three major features:
(1) multiple neural tumors anywhere on or in the body
(2) numerous pigmented cutaneous lesions (café au lait spots); and
(3) pigmented iris hamartomas (Lisch nodules).

Electron micrographic studies show that the tumors are the result of the proliferation of fibroblasts or Schwann cells in the peripheral nerves, possibly due to ras inactivation.
There is no treatment, except for surgical resection of symptomatic tumors.

Ependymoma  can occur wherever ependymal cells are found. They are more common in children, and most often originate in the fourth ventricle. They are the most common intramedullary glioma of the spinal cord.
 
Huntington disease, an autosomal dominant disorder, is characterized by severe degeneration of the caudate nucleus along with degenerative changes in the putamen and cortex.
In addition to chorea, these patients frequently suffer from athetoid movements, progressive dementia, and behavioral disorders.
 
Marfan syndrome  is due to a defect in the gene for fibrillin.
The major clinical findings involve the skeleton, cardiovascular system, and the eye.
Affected individuals tend to be tall with long extremities and long, tapering appendages.
Mitral valve prolapse and dilatation of the aortic valve ring or aortic dissection due to cystic medial degeneration are common.

Q. 5 Ependymomas are commonly associated with:

 A

Tuberous sclerosis

 B

Neurofibromatosis 1

 C

Neurofibromatosis 2

 D

All of the above

Q. 5

Ependymomas are commonly associated with:

 A

Tuberous sclerosis

 B

Neurofibromatosis 1

 C

Neurofibromatosis 2

 D

All of the above

Ans. C

Explanation:

Ependymomas most often arise next to the ependyma-lined ventricular system, including the oft-obliterated central canal of the spinal cord. In the first two decades of life they typically occur near the fourth ventricle and constitute 5% to 10% of the primary brain tumors in this age group. In adults the spinal cord is the most common location; tumors in this site are particularly frequent in the setting of neurofibromatosis type 2
            
Ref: Robbins 8th edition Chapter 28.

Q. 6

Which of the following is the most common tumour associated with Neurofibromatosis -1 (NF-I) in a child?

 A

Juveile Myelomonocytic Leukemia (JMML)

 B

Acute Lymphoblastic Leukemia (ALL)

 C

Acute Myeloid Leukemia (AML)

 D

Chronic Myeloid Leukemia (CML)

Q. 6

Which of the following is the most common tumour associated with Neurofibromatosis -1 (NF-I) in a child?

 A

Juveile Myelomonocytic Leukemia (JMML)

 B

Acute Lymphoblastic Leukemia (ALL)

 C

Acute Myeloid Leukemia (AML)

 D

Chronic Myeloid Leukemia (CML)

Ans. A

Explanation:

Children with neurofibromatosis type 1 have higher risk of developing juvenile myelomonocytic leukemia.
Ref: Essential pediatrics by O.P.Ghai 6th edn/page 545; Rook’s textbook of dermatology, Volume 1 By Arthur Rook, Tony Burns (FRCP.)page 2-32.

Quiz In Between


Q. 7

Pseudarthrosis may be seen in all of the following conditions, EXCEPT:

 A

Fracture

 B

Idiopathic

 C

Neurofibromatosis

 D

Osteomyelitis

Q. 7

Pseudarthrosis may be seen in all of the following conditions, EXCEPT:

 A

Fracture

 B

Idiopathic

 C

Neurofibromatosis

 D

Osteomyelitis

Ans. D

Explanation:

Causes of Pseudarthrosis (In decreasing order of frequency) are:

  • Neurofibromatosis (50% patients of pseudarthrosis have NF)
  • Nonunion of fracture (including pathological fracture)
  • Congenital (mostly in lower to middle third of tibia with cupping of proximal bone end and pointing of distal bone end)
  • Idiopathic
  • Osteogenesis imperfecta
  • Fibrous dysplasia
  • Cleidocranial dysplasia
  • Ankylosing spondylitis (in fused bamboo spine)
  • Post surgical e.g. triple arthrodesis, spinal fusion etc. as a complication. 
Ref: Robbin’s Pathologic basis of Disease 7/e, Page 1289; Apley’s system of Orthopedics & fractures 8/e, Page 156,164,544 ; Natarajan’s orthopedics , Page 27; Murcer’s Orthopedic surgery 9/e, Page 433, 811, 1095, 672,736.

Q. 8 Which of the following is the MOST common skeletal manifestation in Type-1 Neurofibromatosis?

 A

Cortical thinning of long bones

 B

Pseudoarthrosis

 C

Sphenoid dysplasia

 D

Scoliosis

Q. 8

Which of the following is the MOST common skeletal manifestation in Type-1 Neurofibromatosis?

 A

Cortical thinning of long bones

 B

Pseudoarthrosis

 C

Sphenoid dysplasia

 D

Scoliosis

Ans. D

Explanation:

Von Recklinghausen’s Disease or NF-1 – skeletal manifestations
 
Scoliosis is the most common skeletal manifestation of NF-1, affecting 10%–30% of patients.
 
More Info: There are two other bony lesions distinctive enough to be included in the diagnostic criteria for NF-1. 
 
1. Dysplasia of the wing of the sphenoid bone, results in poor formation of the wall and/or floor of the orbit. This leads to proptosis (from herniation of meninges or brain into the orbit) or enophthalmos.
 
2. Dysplasia of a long bone, characterized by congenital thinning and bowing, affects approximately 2% of children with NF-1.
Although the tibia is most commonly affected, the femur, humerus and other long bones may also be involved.
Failure of primary union following a fracture results in a “false joint” or pseudarthrosis.
 
Ref: Listernick R., Charrow J. (2012). Chapter 141. The Neurofibromatoses. In L.A. Goldsmith, S.I. Katz, B.A. Gilchrest, A.S. Paller, D.J. Leffell, N.A. Dallas (Eds), Fitzpatrick’s Dermatology in General Medicine, 8e.

Q. 9

All of the following statements about Neurofibromatosis are true, except?

 A

Cataract

 B

Scoliosis

 C

Cutaneous neurofibromas

 D

Autosomal Recessive Inheritance

Q. 9

All of the following statements about Neurofibromatosis are true, except?

 A

Cataract

 B

Scoliosis

 C

Cutaneous neurofibromas

 D

Autosomal Recessive Inheritance

Ans. D

Explanation:

Neurofibromatoses are a group of clinically and genetically different autosomal dominant hereditary diseases that predispose to benign and malignant tumors of the nervous system. It is of two types NF 1 and NF2.
Cutaneous neurofibromas occur in NF1, and NF 2 is associated with posterior subcapsular cataract.

Ref: Harrison’s Internal Medicine, 18th Edition, Chapter 379; Color Atlas of Genetics By Eberhard Passarge, 3rd Edition, Page 338

Quiz In Between


Q. 10

All of the neurocutaneous signs are seen in Neurofibromatosis Type 2, EXCEPT:

 A

Meningioma

 B

Lisch nodule

 C

Axillary freckling

 D

Shagreen patch

Q. 10

All of the neurocutaneous signs are seen in Neurofibromatosis Type 2, EXCEPT:

 A

Meningioma

 B

Lisch nodule

 C

Axillary freckling

 D

Shagreen patch

Ans. D

Explanation:

Shagreen patch is highly characteristic of tuberous sclerosis and is seen in 80% of patients. It occurs in early childhood and may be the first sign of disease. They are soft, flesh colored to yellow plaques with an irregular surface. It is most commonly seen in the lumbosacral region. 

Features of Neurofibromatosis 1 are: cafe au lait spots, neurofibromas or plexiform neuroma, freckling, optic glioma and Lisch nodules.

Features of Neurofibromatosis 2 are: bilateral vestibular schwannomas, multiple meningioma, spinal ependymoma, astrocytoma, posterior subcapsular lens opacities and retinal hamartomas.


Q. 11

Which of the following is associated with bilateral eighth nerve neuromas?

 A

Neurofibromatosis I

 B

Neurofibromatosis II

 C

Tuberous sclerosis

 D

All of the above

Q. 11

Which of the following is associated with bilateral eighth nerve neuromas?

 A

Neurofibromatosis I

 B

Neurofibromatosis II

 C

Tuberous sclerosis

 D

All of the above

Ans. B

Explanation:

Neurofibromatosis Type II is characterized by bilateral tumors of the eighth cranial nerve (the vestibulocochlear nerve) and any of the following: meningiomas, schwannomas, gliomas, or juvenile subcapsular cataracts.


Q. 12

Which one of the following is the most common tumor associated with type I neurofibromatosis

 A

Optic nerve glioma

 B

Meningioma

 C

Acoustic schwannoma

 D

Low grade astrocytoma

Q. 12

Which one of the following is the most common tumor associated with type I neurofibromatosis

 A

Optic nerve glioma

 B

Meningioma

 C

Acoustic schwannoma

 D

Low grade astrocytoma

Ans. A

Explanation:

Ans. is ‘a’ i.e., Optic nerve glioma

Neurofibromatosis type I (Von-Recklinghewsen diseasel

o NF- 1 is diagnosed when any two of the following seven signs are present.

1. Six or more cafe-au-lait macules

o > 5 mm in prepupertal individuals

o > 15 mm in postpubertal individuals

  • Cafe-au-lait spots are the hallmark of neurofibromatosis and are present in almost 100% of the patient.
  1. Axillary or inguinal freckling
  2. Two or more Lisch nodules.
  • Lisch nodules are hamartomas located within the iris.
  1. Two or more neurofibroma or one plexiform neurofibroma.

o Typically involve the skin, but may be situated along peripheral nerves and blood vessels. o They are small, rubbery lesions with a slight purplish discoloration of the overlying skin.

  1. A distinctive osseous lesion.
  • Sphenoid dysplasia or cortical thinning of long bones.
  1. Optic glioma
  2. A first degree relative with NF-1

o Other findings are : ‑

o Pseudoarthrosis of tibia.

  • Scoliosis is the most common orthopaedic problem in NF-1, but is not specific enough to be included as a diagnostic criterian.
  • Short stature

o Mental retardation, epilepsy

o Hypertension

o Aqueductal stenosis with hydrocephalus

o Meningiomas, ependynomas, Astrocytomas, pheochromocytomas.

o NF-1 is caused by mutation in NF-1 gene on chromosome 17 which encodes protein neurofibromin-1. Neurofibromatosis type -2

o NF-2 may be diagnosed when one of the following two features are present.

  1. Bilateral ocoustic neuroma Most distinctive feature
  2. A parent, sibling or child with NF-2 and either unilateral eighth nerve masses or any two of the following —> Neurofibroma, meningioma, glioma, Schwannoma or juvenile post subcapsular cataract.

o NF-2 is cause by mutation in NF-2 gene on chromosome 22 that encodes for protein neurofibromin 2, Schwannomin or merlin.

Quiz In Between


Q. 13 Neurofibromatosis true all, except-

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Q. 13

Neurofibromatosis true all, except-

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Ans. A

Explanation:

Ans. is ‘a’ i.e., Autosomal recessive

o Neurofibromatosis comprises of two distinct disorders –

  • Neurofibromatosis I

 Neurofibromatosis II

o The genes for these are located on different chromosomes.

o Both are inherited in an autosomal dominant pattern.

o The classical form of the disease with multiple neuromas is called Neurofibromatosis I and is caused by a mutation of the gene neurofibromin on chromosome 17


Q. 14

Which one of the following is the most common tumor associated with type I neurofibromatosis

 A

Optic nerve glioma

 B

Meningioma

 C

Acoustic schwannoma

 D

Low grade astrocytoma

Q. 14

Which one of the following is the most common tumor associated with type I neurofibromatosis

 A

Optic nerve glioma

 B

Meningioma

 C

Acoustic schwannoma

 D

Low grade astrocytoma

Ans. A

Explanation:

Ans. is ‘a’ i.e., Optic nerve glioma

Neurofibromatosis type I (Von-Recklinghewsen disease)

o NF-1 is diagnosed when any two of the following seven signs are present.

1. Six or more cafe-au-lait macules

             > 5 mm in prepupertal individuals

             > 15 mm in postpubertal individuals

               Cafe-au-fait spots are the hallmark of neurofibromatosis and are present in almost 100% of the patient.

2. Axillary or inguinal freckling
3. Two or more Lisch nodules.

             Lisch nodules are hamartomas located within the iris.

4. Two or more neurofibroma or one plexiform neurofibroma.

             Typically involve the skin, but may be situated along peripheral nerves and blood vessels.

             They are small, rubbery lesions with a slight purplish discoloration of the overlying skin.

5. A distinctive osseous lesion.

             Sphenoid dysplasia or cortical thinning of long bones.

6. Optic glioma
7. A first degree relative with NF-1

Other findings are : –

             Pseudoarthrosis of tibia.

             Scoliosis is the most common orthopaedic problem in NF-1, but is not specific enough to be included as a diagnostic criterian.

             Short stature


Q. 15 Wide neuralforamina is associated with:

 A

Neurofibromatosis type 1

 B

Sturge-Weber syndrome

 C

Von Hipple Lindau disease

 D

Tuberous sclerosis

Q. 15

Wide neuralforamina is associated with:

 A

Neurofibromatosis type 1

 B

Sturge-Weber syndrome

 C

Von Hipple Lindau disease

 D

Tuberous sclerosis

Ans. A

Explanation:

A i.e. Neurofibromatosis

Neurofibromatosis type 1 is associated with widening (enlargement) of neural foraminaQ (mostly secondary to dumbbell neurofibroma along exiting spinal nerve root or less commonly d/t dural ectasia, arachnoid cyst or lateral menngocele)Q, scalloping of posterior vertebral bodies, enlargement of internal auditory canal (d/t dural dysplasia), enlargement of optic foramen (d/t optic glioma), enlargement of orbital margins & superior orbital fissure (d/t plexiform neurofibroma) and sclerosis of optic foramen (d/t optic nerve sheath meningioma).

NF1 causes empty orbitQ, Herlequin appearance of orbit and herniation of middle cranial fossa structures into orbit d/t sphenoid bone hypoplasia.

Both neurofibromas (common in NF1) and Schwannomas (common in NF2) are benign nerve sheath tumors mostly found in intradural extramedullary location. Both are derived from Schwann cells, however, neurofibromas also have colagen & fibroblasts. Vestibular or acoustic Schwannoma (or neurilemmoma or acoustic neuroma of 8th cranial nerve) seen in NF2 1/t internal auditory canal (IAC) enlargement (erosion d/t mass centered on long axis of IAC forming acute angles with dural surface of petrous bone) and widening or obliteration of ipsilateral cerebello pontine angle cistern.

NF-2 is located on chromosome 22 and NF1 on chromosome 17(Mn 1 for 1 & 2 for 2). NF2 have propensity for developing MEN/MES i.e. meningioma, ependymoma (gliomas) and Schwannoma (neuromas). Nerves without Schwann cells are olfactory and optic nerve.

Schwannomas neurofibromas, on CT, appear as sharply marginated, unilateral, spherical, or lobular posterior mediastinal mass, with pressure erosion of adjacent rib or vertebral bodies or enlargment of neural foramen with occasional punctate intralesional calcifcation. Owing to their high lipid content, interstitial fluid and areas of cystic degeneration – Schwannomas are often of lower attenuation than skeleton muscle. Neurofibromas are often more homogenous & of higher attenuation than schwannomas (owing to fewer of above histological features). These may heterogenously enhance on contrast administration. On MRI both show variable intensity on T1WI but typically have similar signal intensity to the spinal cord. On T2WI these characteristically have high signal intensity peripherally and low signal intensity centrally (target sign) owing to collagen deposition. Both schwannoma & neurofibroma enhance on gadolinium administration.

Quiz In Between


Q. 16

Rib notching is found in :

 A

Neurofibromatosis

 B

Lymphangiomyomatosis

 C

Aortic aneurysm

 D

a and c

Q. 16

Rib notching is found in :

 A

Neurofibromatosis

 B

Lymphangiomyomatosis

 C

Aortic aneurysm

 D

a and c

Ans. D

Explanation:

A i.e. Neurofibromatosis; C i.e. Aortic aneurysm


Q. 17

Neurofibromatosis all are true except

 A

Autosomal recessive

 B

Scoliosis

 C

Neurofibroma

 D

Association with cataract

Q. 17

Neurofibromatosis all are true except

 A

Autosomal recessive

 B

Scoliosis

 C

Neurofibroma

 D

Association with cataract

Ans. A

Explanation:

A i.e. Autosomal recessive


Q. 18

The pathognomonic sign of neurofibromatosis is

 A

Cafe-au-lait macules

 B

Axillary frekling

 C

Shagreen patch

 D

None of the above

Q. 18

The pathognomonic sign of neurofibromatosis is

 A

Cafe-au-lait macules

 B

Axillary frekling

 C

Shagreen patch

 D

None of the above

Ans. B

Explanation:

B i.e. Axillary freckling

Neurofibromatosis is autosomal dominantQ disorder. Axillary freckling (crowe sign) is a pathognomic sign of von- Reckling hausen’s type 1 neurofibromatosisQ. Café – au – lait macules alone are not absolutely diagnostic of NF1, regardless of their size and number.

Quiz In Between


Q. 19 Neurofibromatosis is associated with –

 A

Papillary Ca

 B

Islet cell tumour

 C

Pheochromytoma

 D

Glucagonoma

Q. 19

Neurofibromatosis is associated with –

 A

Papillary Ca

 B

Islet cell tumour

 C

Pheochromytoma

 D

Glucagonoma

Ans. C

Explanation:

Ans. is ‘c’ i.e. Pheochromocytoma 

Following neoplasms are associated with Neurofibromatosis

Type I (Von Recklinghausen ds.)

Type II

Neurofibromas (including plexiform neurofibromas)

Bilateral vesibular schwannomas

 

Pheochromocytoma

 

Schwannoma of other cranial and spinal nerves

 

Optic gliomas

Meningioma

 

Ependymomas

Gliomas

 

Meningiomas

 

Schwannomas

 

Astrocytomas

 

 

 

Q. 20 Plexiform neurofibromatosis commonly affects…

 A

Facial nerve      

 B

Trigeminal nerve

 C

Peripheral nerve

 D

Glossopharyngeal nerve

Q. 20

Plexiform neurofibromatosis commonly affects…

 A

Facial nerve      

 B

Trigeminal nerve

 C

Peripheral nerve

 D

Glossopharyngeal nerve

Ans. B

Explanation:

Ans. is ‘b’ i.e., Trigeminal nerve 


Q. 21

Musculo skeletal abnormality in neurofibromatosis is

 A

Hypertrophy of limb

 B

Scoliosis

 C

Cafe au lait spots

 D

All

Q. 21

Musculo skeletal abnormality in neurofibromatosis is

 A

Hypertrophy of limb

 B

Scoliosis

 C

Cafe au lait spots

 D

All

Ans. D

Explanation:

Ans. is `d’ i.e., All 

Quiz In Between


Q. 22

Neurofibromatosis presents as all of the following except –

 A

Elephantiasis neuromatodes

 B

Plexiform neuroma

 C

Von Recklinghausen’s disease

 D

Lymphadenovarix

Q. 22

Neurofibromatosis presents as all of the following except –

 A

Elephantiasis neuromatodes

 B

Plexiform neuroma

 C

Von Recklinghausen’s disease

 D

Lymphadenovarix

Ans. D

Explanation:

Ans. is ‘d’ i.e., Lymphadenovarix 


Q. 23

Not true regarding neurofibromatosis is ‑

 A

Never become malignant

 B

Is encapsulated

 C

Resected along nerve fibres

 D

a and b

Q. 23

Not true regarding neurofibromatosis is ‑

 A

Never become malignant

 B

Is encapsulated

 C

Resected along nerve fibres

 D

a and b

Ans. D

Explanation:

Ans is ‘a’ ie Never becomes malignant & ‘b’ i.e. is encapsulated

Malignant transformation of neurofibromas occurs in 5-10% of cases

Neurofibromatosis (or von Recklinghausens ds)

  • is the MC hereditary neurocutaneous syndrome.
  • There are two forms of neurotibromatosis, both Autosomal dominant*

Neurofibromatosis type I is characterized by :

Neurofibromatosis type II is characterized by :

numerous neurofibromas in the skin &

peripheral nerves.

the development of b/l vestibular

schwannomas in >90% of individuals*.

pigmented pathes in the skin k/a cafe au lait

spots.

pt. also has prediliction for development of

gliomas*, meningioma and schwannomas of

Freckling in non-sun exposed areas such as

 

cranial & spinal nerves.

 

the axilla.

Vestibular schwannomas (or Acoustic

hamartornas of iris termed Lisch nodules

 

neuromas)* usually present with progressive

Pseudoarthrosis of tibia.

 

deafness early in the third decade of life.

Diffuse proliferation of nerve elements may

cause massive enlargement of tissues

 

 

 

(Elephantiasis neurofibromatosa or

 

 

 

Elephant man disease)*

 

 

 

  • Schwannomas are encapsulated but neurofibromas are not Therefore Schwannomas can be resected surgically without sacrificing the nerve but in neurofibromas the nerve has to be resected along.

Difference b/w Schwannoma & Neurofibroma

  • Schwannoma (or Neurilemmoma)
  • are true encapsulated neoplasm composed of schwann cells.
  • It compresses the nerve of origin.
  • There is a plane of cleavage separating the nerve from the mass .
  • Neurofibroma
  • are unencapsulated benign neoplasm of schwann cells and fibroblasts.
  • The tumor involves the nerve. Grossly it appears as expanded nerve.
  • It is composed of mixture of schwann cell and fibroblast and contains axons within it.
  • It can not be demarcated from the nerve therefore can not be removed without sacrificing the nerve.

Q. 24 Neurofibromatosis type 2 is associated with:

 A

B/L acoustic neuroma

 B

Cafe-au-lait spots

 C

Chromosome 22

 D

All

Q. 24

Neurofibromatosis type 2 is associated with:

 A

B/L acoustic neuroma

 B

Cafe-au-lait spots

 C

Chromosome 22

 D

All

Ans. D

Explanation:

 

B/L acoustic neuromas are a hallmark of Neurofibromatosis 2

  • Neurofibromatosis Type 2 is an autosomal dominant highly penetrant condition
  • Gene for NF-2 is located on chromosome 22q.
  • Patients with NF2 present in second and third decade of life, rarely after the age of 60.
  • M/C symptom/Presenting symptom = Hearing loss
  • Skin tumors are present in nearly two thirds of patients of NF-2

-Current Otolaryngology 3/e

 


Quiz In Between


Q. 25

All of the following statements about Neurofibromatosis are true, Except:

 A

Autosomal Recessive Inheritance

 B

Cutaneous neurofibromas

 C

Cataract

 D

Scoliosis

Q. 25

All of the following statements about Neurofibromatosis are true, Except:

 A

Autosomal Recessive Inheritance

 B

Cutaneous neurofibromas

 C

Cataract

 D

Scoliosis

Ans. A

Explanation:

Answer is A (Autosomal Recessive inheritance):
Neurofibromatosis is inherited as an autosomal dominant condition

Neurofibromatosis

Oculoneurocutaneous syndrome characterized by multisystem involvement

Neurofibromatosis I (NF 1)            

Peripheral Neurofibromatosis (Von Recklinghausen’s syndrome)

•   Most prevalent type (90%)

•  Recognized to be related to abnormality of chromosome 17 (NFI gene)

•  Transmitted as an Autosomal Dominant disorder

Diagnostic Criteria for NF I

Diagnosed when any two of the following are present

1. Six more cafe-au-loit macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.

2. Axillary or inguinal freckling

3. Two or more iris Lisch nodules

4. Two or more neurofibromas or one plexiform neurofibroma

5. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bone, with or without pseudoarthrosis.                                                          

6. Optic gliomas.

7. A first degree relative with NFI whose diagnosis was based on the aforementioned criteria.

Note

Scoliosis is the most common orthopaedic manifestation of

NFl although it is not specific enough to be included as a diagnostic criteria — Nelson 18th/2483


Neurofibromatosis II (NF II)                            

Central Neurofibromatosis (Bilateral Acoustic Neurofibromatosis)

•  Less prevalent type (10%) recognized to be related to

abnormality of chromosome 22 (NF2 gene)

•  Transmitted as an Autosomal dominant disorder

Diagnostic Criteria for NF2

 

Diagnosed when any one of the following is present.

 

1 . Bilateral eighth nerve masses consistent with acoustic

neuromas as demonstrated by CT scanning or MRI

2. A parent, sibling, or child with NF-2 and either

3. unilateral eight nerve mass or any two of the following:

– Neurofibroma

– Meningioma

– Glioma

– Schwannoma

 

Juvenile posterior subcapsular opacity

 

 

Bilateral acoustic neuromas are the most

distinctive tumors in patients with NF-2.

 

 

 

 

Note

 

Posterior subcapsular lens opacities (cataract) are

 

identified in 50% of patients with NF2

 

— Nelson 181h/2484



Q. 26 Which of the following is the most common tumor associated with type I neurofibromatosis?

 A

Optic nerve glioma.

 B

Meningioma

 C

Acoustic Schwannoma

 D

Low grade astrocytorna.

Q. 26

Which of the following is the most common tumor associated with type I neurofibromatosis?

 A

Optic nerve glioma.

 B

Meningioma

 C

Acoustic Schwannoma

 D

Low grade astrocytorna.

Ans. A

Explanation:

Answer is A (Optic Nerve Glioma):
The commonest tumor in neurofibromatosis I is optic nerve gliomna. Optic gliomas are present in approximately 15% of patients with NFI and its presence is included as one of the criteria in establishing its diagnosis.

Neoplasms associated with NF-I include:

 

CNS Neoplasms

Others tumors with higher incidence than general population

1.

Optic nerve glioma (commonest)

1.

Pheochromocytomas

2.

Meningiomas

2.

Rhabdomyosarcomas

3.

NeurojIbromas

3.

Leukaemia

4.

Schwannomas

4.

Wilm’s

5.

Astrocytomas

5.

Juvenile Xanthogranulomas

6

Neurolemmomas

 

 

 


Q. 27

Neurofibromatosis I is most commonly associated with:

 A

Brain stem gliomas

 B

Optic pathway glioma

 C

Sub ependymal pilocytic astrocytoma

 D

Glioblastoma multiforme

Q. 27

Neurofibromatosis I is most commonly associated with:

 A

Brain stem gliomas

 B

Optic pathway glioma

 C

Sub ependymal pilocytic astrocytoma

 D

Glioblastoma multiforme

Ans. B

Explanation:

Answer is B (Optic Nerve Glioma):

Optic Gliomas are present in about 15 to 25% of patient with NF-I and its presence is included as one of the criteria in establishing its diagnosis (Diagnostic criteria in NFl)

Optic Gliomas are the most common intracranial tumors of Neurofibromatosis 1- Child Neurology

Quiz In Between


Q. 28 Lisch nodules are seen in: 
March 2004

 A

Albright syndrome

 B

Neurofibromatosis

 C

Tuberous sclerosis

 D

Piebaldism

Q. 28

Lisch nodules are seen in: 
March 2004

 A

Albright syndrome

 B

Neurofibromatosis

 C

Tuberous sclerosis

 D

Piebaldism

Ans. B

Explanation:

Ans. B i.e. Neurofibromatosis

Lisch nodule

  • It is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris
  • These nodules are found in neurofibromatosis type 1, and are present in greater than 94% of patients over the age of six.
  • They are clear, yellow-brown, oval to round, dome-shaped papules that project from the surface of the iris.
  • These nodules typically do not affect vision, but are very useful in diagnosis.
  • They are detected by slit lamp examination. lmmunohistochemistry stains positive against vimentin and S-100, and points to an ectodermal origin.
  • They are not found in neurofibromatosis type 2.

Q. 29 Pheochromocytoma is usually associated with:
September 2007

 A

Pancreatic exocrine carcinoma

 B

Astrocytoma

 C

Neurofibromatosis

 D

Neuroblastoma

Q. 29

Pheochromocytoma is usually associated with:
September 2007

 A

Pancreatic exocrine carcinoma

 B

Astrocytoma

 C

Neurofibromatosis

 D

Neuroblastoma

Ans. C

Explanation:

Ans. C: Neurofibromatosis

Pheochromocytoma linked to MEN II cart be caused by RET oncogene mutations. Both syndromes are characterized by pheochromocytoma as well as thyroid cancer (thyroid medullary carcinoma). MEN IIA also presents with hyperparathyroidism, while MEN IIB also presents with mucosal neuroma.

Pheochromocytoma is also associated with neurofibromatosis


Q. 30 Lisch nodules are seen in:           
March 2009

 A

Retinoblastoma

 B

Neurofibromatosis

 C

Retiniitis pigmentosa

 D

Neuroblastoma

Q. 30

Lisch nodules are seen in:           
March 2009

 A

Retinoblastoma

 B

Neurofibromatosis

 C

Retiniitis pigmentosa

 D

Neuroblastoma

Ans. B

Explanation:

Ans. B: Neurofibromatosis

Quiz In Between


Q. 31

NOT a feature of Neurofibromatosis-1:
September2012

 A

Ash leaf spots

 B

Family history

 C

Optic glioma

 D

Axillary freckle

Q. 31

NOT a feature of Neurofibromatosis-1:
September2012

 A

Ash leaf spots

 B

Family history

 C

Optic glioma

 D

Axillary freckle

Ans. A

Explanation:

Ans. A i.e. Ash leaf spots

Dermatological conditions and important findings

Tuberous sclerosis:

– Ash leaf spot,

– Adenoma sebaceum

– Shagreen patches

  • Urticaria pigmentosa: Darrier’s sign
  • Amyloidosis: Pinch purpura
  • Lichen planus:

– Wickham’s striae,

– Civatte bodies

  • Atopic dermatitis: Dennie Morgan folds
  • Pityriasis rosacea:

– Herald patch, Mother patch

– Annular collratte of scales


Q. 32 Glioma of optic nerve is associated with ‑

 A

Neurofibromatosis type I

 B

Neurofibromatosis type II

 C

Both the above

 D

None of the above

Q. 32

Glioma of optic nerve is associated with ‑

 A

Neurofibromatosis type I

 B

Neurofibromatosis type II

 C

Both the above

 D

None of the above

Ans. A

Explanation:

Ans. is ‘a’ i.e., Neurotibromatosis type I

Optic nerve glioma

Optic nerve glioma (astrocytoma) is the most common intrinsic tumor of the optic nerve. Most common type of optic nerve glioma is juvenile pilocytic astrocytoma. The majority of optic nerve gliomas are of astrocytic origin. However, a few rare optic nerve gliomas arise from oligodendrocytes. 70% of optic gliomas occur during first decade of life. Optic nerve gliomas are associated with Neurofibromatosis-1 (Von Recklinghausen’s disease) in 55% of cases. 75% of optic gliomas arise from optic chiasma and adjacent optic nerve. 25% are confined to optic nerve alone (orbital optic nerve glioma).

Patients present with some degree of unilateral visual dysfunction, visual field loss, afferent pupillary defect, decreased ocular motility, optic atrophy, pain headache and nystagmus. Proptosis is often the chief complaint of an orbital glioma. Nystagmus may also occur. Other late features of optic nerve glioma are neovascular glaucoma, anterior segment ischemia and hemorrhagic glaucoma from retinal vascular occlusion.

In chiasmal gliomas there may be visual field defects, raised ICT, papilloedema and endocrine abnormalities like diabetes insipidus, hypopituitarism, dwarfism and precocious puberty.


Q. 33

Lisch nodule seen in ‑

 A

Sympathetic ophthalmitis

 B

Neurofibromatosis

 C

Chronic iridocyclitis

 D

Trachoma

Q. 33

Lisch nodule seen in ‑

 A

Sympathetic ophthalmitis

 B

Neurofibromatosis

 C

Chronic iridocyclitis

 D

Trachoma

Ans. B

Explanation:

Ans. is ‘b’ i.e., Neurofibromatosis
Lisch nodules are the most common type of ocular involvement in NF-1. These nodules are melanocytic hamartomas, usually clear yellow to brown, that appear as well-defined, dome-shaped elevations projecting from the surface of the iris.

Quiz In Between


Q. 34

Neurofibromatosis true is all except ‑

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Q. 34

Neurofibromatosis true is all except ‑

 A

Autosomal recessive

 B

Associated with cataract

 C

Scoliosis

 D

Multiple fibroma

Ans. A

Explanation:

Ans. is `a’ i.e., Autosomal recessive


Q. 35

Neurofibromatosis shows which of the following mode of inheritance ‑

 A

AD

 B

AR

 C

X linked dominant

 D

X linked recessive

Q. 35

Neurofibromatosis shows which of the following mode of inheritance ‑

 A

AD

 B

AR

 C

X linked dominant

 D

X linked recessive

Ans. A

Explanation:

Ans. is ‘a’ i.e., AD

Neurofibromatosis shows autosomal dominant inheritance pattern

  • Single gene disorders (Mendelian disorders) typically follow one of the three patterns of inharitance
  1. Autosomal dominance
  2. Autosomal recessive
  3. X-linked

Autosomal dominant disorders

  • Normally a gene pair has two alleles.
  • When one allele becomes abnormal due to mutation it is called heterozygous state.
  • When both the alleles become abnormal due to mutation it is called homozygous state.
  • Autosomal dominant disorders are manifested in heterozygous state, i.e. only if one allel is abnormal the disease will be manifested.

Quiz In Between



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