A. Associated with cataract.
C. Ash leaf spots.
D. Optic glioma.
Ans:C. Ash leaf spots.
The patient is suffering from Neurofibromatosis.
Second:Cafe u lait spot.
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes..
- 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