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Tuberous sclerosis complex (Bourneville–Pringle Disease) in a 25-yearold female with bilateral renal angiomyolipoma and secondary hypertension
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Tuberous sclerosis complex (Bourneville–Pringle Disease) in a 25-yearold female with bilateral renal angiomyolipoma and secondary hypertension
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Journal Article
Tuberous sclerosis complex (Bourneville–Pringle Disease) in a 25-yearold female with bilateral renal angiomyolipoma and secondary hypertension
2017
Overview
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 angiotensinconverting
enzyme inhibitors with a favorable outcome.
Publisher
Saudi Center for Organ Transplantation
