Tuberous sclerosis is characterized by all Except

Correct Answer: Arachnoid cyst
Description: (Arachnoid cyst) (1800, 2607- HI 7th)* CNS hamartoma can cause, seizure, mental retardation and autism* Rena tuberous sclerosis occurs in three forms: renal cysts (large and numerous) renal angiomyolipoma (Bilateral, multiple) and renal cell carcinoma (Multicentric)Characteristic Triad of Tuberous Sclerosis* Epilepsy I seizure*** Mental retardation / Subnormal intelligence** Adenoma sebacium** (facial angiofibroma)* Tuberous sclerosis (TS) is an autosomal dominant**TSC-1, TSC-2 gene) Hamartin and Tuberin formSkin (Cutaneous) InvolvementNeurological featuresBenign Neoplasms* Adenoma sebacium- facial angiofibroma* Ash-leaf-shaped hypopigmented macule* Shagreen patches - yellowish thickening of skin over lumbo sacral region of back* Depigmented nevi* Epilepsy, seizure*Mental retardation* Hydrocephalus* Presence of subependymal nodule with calcification on neuroimaging is characteristics* Rhabdomyoma of myocardium* Angiomyoma of kidney /(liver / pancreas adrenal)* Ependymomas* and childhood subependymal giant cell Astrocytoma* Clinical features of systemic sclerosis* Raynaud's phenomenon*** Myopathy* Sclerodactyly*** Esophageal dysmotility* Sub cutaneous calcinosis** Pulmonary fibrosis* Skin thickening* Isolated pulmonary arterial hypertension* Melanin deposition (Hyperpigmentation)* CHF* Telangiectasia* Renal crisis* Arthralgia / arthritis* Third to fifth decade M.F. (1:3)
Category: Medicine
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