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What is In Tuberous sclerosis all are seen except: and explain in detail?
Ans. A. EpendymomaTuberous sclerosis is a neurocutaneous syndrome.* Neurologic findings: Tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs)* Cutaneous findings: The best-known cutaneous manifestation of TSC is adenoma sebaceum, which often does not appear until late childhood or early adolescence* Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; mostly rhabdomyomas.* Ophthalmic findings: some these lesions are actually retinal astrocytomas that tend to become calcified over time* Renal findings: Renal manifestations of TSC are the second most common clinical feature; 4 types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipoma (AMLs), and renal cell carcinomas* Dental findings: Pitting of the dental enamel is invariably present in the permanent teeth of patients with TSC; gingival fibromas, mixed dentition (primary and permanent teeth), and in 3% of children with only primary teeth* Gastrointestinal findings: Hamartomas and polyposis of the stomach, intestine, and colon may occur* Hepatic findings: Hepatic cysts and hepatic AMLs, typically asymptomatic and non-progressive* Skeletal findings: Sclerotic and hypertrophic lesions of bone