Bourneville syndrome- type 2

Overview

A rare genetic condition characterized by mental and physical retardation, seizures and numerous benign tumors that can occur on the skin or in organs. The severity of symptoms can vary greatly depending on where the tumors occur

Symptoms

* Premature kidney failure * Mental retardation * Seizures * Kidney dysfunction * Retinal hamartomas * Facial angiofibroma * Patches of increased pigmentation on trunk * Brain abnormality * Koenen tumors * Fibrous plaques on forehead * Kidney angiomylopiomas * Subpendymal nodules * Multiple cortical tuber * Kidney cysts * Fetal bradycardia * Abnormal fetal heart rhythm * Heart tumor * Gum growths * Lung tumors

Diagnosis

signs and symptoms of Tuberous sclerosis, type 2 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Tuberous sclerosis, type 2 symptoms