Department of Nephrology and Haemodialysis, General Hospital of National Reference/130 N’Djamena, Chad
Case Report
Tuberous Sclerosis or Bourneville's Disease: A Case Report
Author(s): Hamat I*, Youssouf M, Kane Y, Mahamat AA, Guillaume MA, Lemrabott TA, Said HY, Tondi ZMM, Akomola SK, Abdelkerim CS, Manna AA, Abdelaziz NH, Hapsita MA, Mahamat AH, Fary KAE, Niang A, Boucar D and Lucien A
Introduction: The Bourneville’s disease also called the tuberous sclerosis is a rare genetic disorder with a prevalence of about 1 case per 6000 living births, inherited in an autosomal dominant way with a multi-systemic clinical expression. This disease is characterized by hamartoma growing and many other tumours mainly located in the brain, kidneys, skin, heart, bowel, liver, retina and lungs.
Observation: We reported a case of a 27 years old young Chadian lady. She has consulted in the Nephrology Unit for a recurrent left renal colic for which the ultrasound has suggested the CACCI RICCI disease. The questioning and clinical examination have observed a moderated autism syndrome, a recurrent renal colic since 12 years, some dermatological damages (angiofibroma, molluscum pendulum, hypomelanotic macules) and the CT urogram has showed .. View More»
