Question
An 8 month old boy preseted with failure to thrive and pancytopenia.Xrays shows the following features.What can be the most possible diagnosis?
A. Fibrous Dysplasia
B. Paget’s Disease
C. Osteopetrosis
D. Hypervitaminosis D
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Correct Answer » C Explanation |
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Ans:C. Osteopetrosis.
Image shows:Osteopetrosis. All of the bones are markedly dense. There is dysplasia of both femoral heads and necks. The marrow cavity has been replaced.
Osteopetrosis (Marble bone disease, Albers-Schonberg disease)
- Osteopetrosis is a group of disorders characterized by the failure of osteoclasts to resorb bone. (Osteoblastic bone formation is preserved). As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.
Infantile osteopetrosis (also called malignant osteopetrosis or osteopetrosis congenita) is diagnosed early in life. Its clinical manifestations are described below.
- It causes severe disability.
- Bone encroachment on marrow results bone marrow failure with resultant pancytopenia. Patients might have anemia, easy bruising and bleeding (due to thrombocytopenia), and recurrent infections (due to inherent defects in the immune system). Extramedullary hematopoiesis might occur with resultant hepatosplenomegaly, hypersplenism, and hemolysis.
- Foraminal occlusion may cause cranial nerve palsy.
- Dentition might be delayed.
- Osteomyelitis of the mandible is common due to an abnormal blood supply.
- Bones are fragile and can fracture easily.
Adult osteopetrosis (also called benign osteopetrosis) is diagnosed in late adolescence or adulthood.
- Approximately one half of patients are asymptomatic. and the diagnosis is made incidentally, after a fracture or when a x-ray is taken for other reasons..
- Bone marrow function is not compromised
- Complications like pathological fractures, cranial nerve compressions, and osteomyelitis may occur.
- X-ray shows generalized osteosclerosis. Bones may be uniformly sclerotic, but alternating sclerotic and lucent bands may be noted in iliac wings and near ends of long bones.
- The entire skull is thickened and dense, especially at the base. Sinuses are small and underpneumatized. Vertebrae are extremely radiodense. They may show alternating bands, known as the rugger jersey sign Radiographs may show evidence of fractures or osteomyelitis.
Treatment
- bone marrow transplantation
