Hemorrhagic angiomyolipoma and tuberous sclerosis complex: a case report.
Tuberous sclerosis was first described in 1862 by von Recklinghausen. Since then there have been many advances in our understanding of the diagnosis, pathogenesis, and treatment of this disease complex, especially after it was characterized genetically. While many patients who have tuberous sclerosis present with the classic triad of mental retardation, seizures, and facial "adenoma sebaceum," most do not because of its variable penetrance. The diagnostic criteria have been revised to include patients with tuberous sclerosis who do not match the classic pattern. Here we describe a 44-year-old female without a prior diagnosis who did not have the classic triad but who presented with flank pain. Hemorrhagic angiomyolipoma was diagnosed by computerized tomography scan and she was treated by an embolization procedure. We review tuberous sclerosis and underscore the need to consider this diagnosis for the following reasons: 1. it is not uncommon (slightly more than one in 6,000 live births); 2. its presentation is protean; 3. once the diagnosis is made, search can be made for associated findings that may lead to additional morbidity if not carefully managed, e.g., if an angio-myolipoma is diagnosed, it can be followed and possibly treated; and 4. owing to its autosomal dominant pattern of inheritance, members of the family can be screened appropriately.
Mirchandani
Gautam R
GR
Yale Primary Care Residency Program, Department of Internal Medicine, Yale University School of Medicine, New Haven, USA.
Kempton
James E
JE
Dainiak
Christopher
C
Kraus
Mark L
ML
D000328:Adult; D018207:Angiomyolipoma / Q000175:diagnosis* / Q000628:therapy; D004621:Embolization, Therapeutic; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000628:therapy; D014402:Tuberous Sclerosis / Q000175:diagnosis*