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.
