Young female presents with hypeension with VMA >14 mg/day, associated with –
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Description: Answer is D.)'a' i.e. Medullary Ca thyroid, 'b' i.e. Von-Hippel Lindau disease, ; 'c' i.e. Sturge-weber syndrome A young female patient with hypeension and VMA > 14 mg/24 hrs (Normal VMA excretion in urine is less than 7 mg/24 hrs) is suggestive of pheochromocytoma. Familial syndromes associated with pheochromocytomas include MEN 2A and 2B, neurofibromatosis (von Recklinghausen disease), and VHL disease.MEN 2A (Sipple syndrome) is characterized by the following: Medullary thyroid carcinoma Parathyroid adenoma Pheochromocytomas Hirschsprung disease. MEN 2B is characterized by the following: Medullary thyroid carcinoma Pheochromocytoma Mucosal neurofibromatosis Intestinal ganglioneuromatosis Hirschsprung disease Marfanoid body habitus. VHL disease is associated with the following: Pheochromocytoma Cerebellar hemangioblastoma Renal cell carcinoma Renal and pancreatic cysts Epididymal cystadenomas. Neurofibromatosis, or von Recklinghausen disease, is characterized by congenital anomalies (often benign tumors) of the skin, nervous system, bones, and endocrine glands. Only 1% of patients with neurofibromatosis have been found to have pheochromocytomas, but as many as 5% of patients with pheochromocytomas have been found to have neurofibromatosis.Other neuroectodermal disorders associated with pheochromocytomas include tuberous sclerosis (Bourneville disease, epiloia) and Sturge-Weber syndrome.
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