Tuberous sclerosis complex (Bourneville-Pringle disease) in a 25-year- old female with bilateral renal angiomyolipoma and secondary hypertension

摘要

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.