Delayed Diagnosis of Tuberous Sclerosis Complex Presenting as Abnormal Uterine Bleeding: A Case Report and Literature Review
TL;DR
The case of a 28‐year‐old Ethiopian woman with a longstanding seizure disorder who presented with a two‐year history of abnormal uterine bleeding is reported, highlighting abnormal uterine bleeding as an uncommon sentinel manifestation of TSC and emphasizing the importance of considering syndromic diagnoses when gynecologic abnormalities coexist with multisystem findings.
Abstract
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by the development of hamartomatous lesions in multiple organs. Although neurologic and dermatologic manifestations commonly lead to diagnosis during childhood, some patients remain undiagnosed until adulthood because of atypical presentations. We report the case of a 28‐year‐old Ethiopian woman with a longstanding seizure disorder who presented with a two‐year history of abnormal uterine bleeding. Physical examination revealed facial angiofibromas and hypomelanotic macules. Further evaluation demonstrated bilateral renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, cortical and subcortical brain lesions, and uterine myometrial lesions compatible with perivascular epithelioid cell tumors (PEComas). Histopathologic examination of a surgically excised renal mass confirmed angiomyolipoma. Based on the presence of multiple major clinical and radiologic features, the patient fulfilled the 2021 International Tuberous Sclerosis Complex diagnostic criteria for a definite diagnosis. This case highlights abnormal uterine bleeding as an uncommon sentinel manifestation of TSC and emphasizes the importance of considering syndromic diagnoses when gynecologic abnormalities coexist with multisystem findings. Early recognition facilitates multidisciplinary management and long‐term organ‐specific surveillance.