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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2017  |  Volume : 28  |  Issue : 3  |  Page : 633-638
Tuberous sclerosis complex (Bourneville-Pringle disease) in a 25-year- old female with bilateral renal angiomyolipoma and secondary hypertension


Department of Internal Medicine, Hedi Chaker Hospital, Sfax, Tunisia

Correspondence Address:
Sahar El Aoud
Department of Internal Medicine, Hedi Chaker Hospital, 3029 Sfax
Tunisia
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DOI: 10.4103/1319-2442.206461

PMID: 28540905

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Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck. Abdominal ultrasonography revealed bilateral renal angiomyolipoma. Brain magnetic resonance imaging showed subependymal nodules and cortical tubers. She also presented retinal and oral lesions. Our patient has a definitive diagnosis of TSC. Hypertension was related to the renal involvement of TSC, and the patient benefitted from oral angiotensin- converting enzyme inhibitors with a favorable outcome.


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