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What is The most likely diagnosis is a case of intractable convulsions mental defect and facial nevus is? and explain in detail?
Ans. is 'a' i.e., Sturge-weber syndrome o Sturge weber syndrome and Von-Reckling-Hausen disease (NF-1) have been explained earlier about other options. Tuberous sclerosis (Bourneville's disease) o Tuberous sclerosis is characterized by : ? Cutaneous lesions ---> Adenoma sebaceum, ash-leaf shaped hypopigmented macules, shagreen patches, depigmented nevi. Seizures Mental retardation o Other features ----> Calcified subependymal nodules, Subependymal giant cell astrocytoma, ependymoma, Rhabdomyomas of the hea, and angiomyomas of the kidney, liver, adrenals and pancreas. Von Hippel - Lindau syndrome o This syndrome consists of Retinal, cerebellar and spinal hemangioblastoma. o Renal cell carcinoma, Pheochromocytoma, benign cyst of the kidney, liver, pancrease and epididymis may also occur. o Polycythemia may occur due to secretion of erythropoietin from hemangioblastoma.