Tuberous sclerosis - A case report

Abstract

Case Report: A 32-years-old man was referred to the Internal
Medicine clinic to study “multiple renal lesions” detected in a
chest CT performed to controlling an empyema. He had a history
of mild cognitive impairment and epilepsy diagnosed when he
was 18-years-old. He had been followed up in the Neurology
clinic and medicated with sodium valproate. His previous brain
CT showed "subependymal nodules" and cortical tuber. Physical
examination noted the presence of facial and periungual fibromas
and hypomelanosis macule on the trunk. Abdominal-pelvic CT
showed "solid nodules and cysts in both kidneys”. Abdominal-
-pelvic MRI did not clarify the nature of renal nodules. A biopsy of
one nodule located in the lower pole of left kidney was performed.
The histological study was compatible with the diagnosis of angiomyolipoma. The diagnosis of tuberous sclerosis was established
based on the combination of major criteria (facial angiofibroma,
periungual fibroma, subependymal nodules, cortical tuber, renal
angiomyolipoma) and one minor criterion (multiple renal cysts).