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 multi-bilateral angiolipoma on the kidneys which suggested the Bourneville’s disease. A treatment based on Sirolimus has been proposed. Then, the cytobacteriological examination of the urine has revealed the presence of leukocytes and gram-negative bacilli which has required a treatment based on Ciprofloxacin 500 mg twice per day for 10 days and Azithromycin 500 mg per day for 3 days.
Discussion: Main example of the congenital ectodermal dysplasia, the Bourneville’s disease is an autosomal dominant disease with large clinical expressions. The etiopathogenic reasons suggest a mutation of two anti-oncogenes TSC1 and TSC2 which code for hamartin and tuberin proteins respectively. The final diagnosis of the Bourneville’s disease associates two major criteria or a major and two minor criteria as described by Gomez. Our patient presents three major criteria from which the multi-bilateral angiomyolipoma without any effect on the kidney function.
Conclusion: The tuberous sclerosis or Bourneville’s disease is a rare disease. Our study has confirmed it because this is the first case in seven years of consultations in the Nephrology department.