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Medicine

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Neurology

Question
9 out of 12
 

All are true about tuberous sclerosis except? (LQ)



A Autosomal recessive

B Shagreen patches

C Rhabdomyoma of myocardium

D Epilepsy

Ans. A

Autosomal recessive

Tuberous sclerosis

It is genetically determined autosomal dominant, neuro-cutaneous syndrome characterized by:

1). Skin (Cutaneous) Involvement

a. Adenoma sebacium :facial angiofibroma.

b. Shagreen patches: yellowish thickening of skin over Lumbosacral region of back.

c. Depigmented Nevi

d. Ash-leaf shaped hypopigmented macules

2). Neurological Features

a. Epilepsy, Seizures

b. Subependymal nodules with calcification on neuroimaging is characteristic.

c. Mental retardation

d. Hydrocephalus

3). Benign Neoplasms

a. Rhabdomyoma of myocardium

b. Angiomyoma of kidney / liver / pancreas / adrenals.

c. Ependymomas and Childhood Subependymal giant cell Astrocytoma.

Characteristic Triad of Tuberous Sclerosis

1). Epilepsy / Seizures

2). Mental Retardation / Subnormal Intelligence

3). Adenoma Sebacium

Neurology Flashcard List

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