A Child presented with Adenoma sebaceum and intractable seizures. MRI showed sub ependymal giant cell Astrocytomas. Cause is
(A) Tuberous sclerosis # TUBEROUS SCLEROSIS OR BOURNEVILLE'S DISEASE is an inherited condition characterized by the presence of hamartomas in many organs including angiomyolipoma of the kidney, cardiac rhabdomyoma and cortical and subependymal tubers in the brain.> Some patients have lymphangioleiomatosis, a cystic lundisease seen in women.> The classic clinical triad is focal epilepsy, adenoma sebaceum and mental retardation (mnemonic: fits, zits and nitwits).> The cortical hamartomas are called tubers and are similar to cortical dysplasia.> Subependymal nodules are small lesions protruding into the lateral ventricles. Sometimes they are calcified.> Tuberous sclerosis (TS) is an autosomal dominant inherited neurocutaneous syndrome characterized by a variety of hamartoma touslesions in various organs.# Dermatological Involvement of TS:> Includes hypopigmented macules, facial angiofibromas, shagreen patches, and ungula fibromas.> Hypopigmented macules, which have been called "ash leaf spots" after the European mountain ash tree, occur in more than 90% of patients with TS.> They are generally detected in infancy or early childhood and are typically round at one end and tapered at the other.> Facial angiofibromas or "adenoma sebaceum," are seen in approximately 75% of patients; appear in adolescence as small red papules in the malar area, with a so-called "butterfly distribution".> Shagreen patches are typically found as grayish-green or light brown areas in the lumbosacral region in 20%-30% of patients.> Ungula fibromas are nodular lesions located beneath the nails of the toes or fingers.> Lesions can be found in approximately 20% of patients, especially in adolescents and adults.> Detection of these skin lesions can be a first step in diagnosing TS, since they are the only major diagnostic criteria that can be evaluated at clinical examination# Neurological involvement of TS: Four common CNS abnormalities are cortical tubers, subependymal nodules, subependymal giant cell astrocytomas (SGCAs), and white matter abnormalities.> Except for SGCAs, these abnormalities can be seen in almost all patients with TS.> Estimated prevalence of cortical tuber and/or subependymal nodule is 95%-100% and that of white matter abnormalities is 40%-90%.> Rare CNS manifestations include mild dilatation of lateral ventricles due to atrophy or dysgenesis, cerebellar atrophy, infarction caused by occlusive vascular disorders, cerebral aneurysm, dysgenesis of the corpus callosum, Chiari malformation, microcephaly, macroencephaly, arachnoid cyst, neurofibromatosis, & chordoma.> Cardiac rhabdomyoma is a benign striated muscle tumor characterized by the presence of "spider cells,"> Pulmonary involvement of TS includes lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH).> Renal involvement of TS includes renal angiomyolipoma (AML), renal cysts, and renal cell carcinoma. Renal AML is one of the common manifestations, with a frequency of 55%-75% in patients with TS; conversely, approximately 20% of patients with AML have TS
Tuberous sclerosis
Neurofibromatosis
Sturge Weber syndrome
Von-Hippel Lindau syndrome
Miscellaneous