Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia

We present a case of a 31-year-old woman with progressive abdominal distension, bilateral loin pain, and severe anemia requiring multiple blood transfusions. She was referred for a computed tomography (CT) scan of bilateral renal masses before potential surgery. The scan revealed large renal masses with fat attenuation, diagnosed as angiomyolipomas. Additionally, suspicious facial lesions raised concerns for a neurocutaneous disorder, prompting further imaging. A non-contrasted CT of the head showed multiple calcified subependymal nodules, leading to a delayed diagnosis of tuberous sclerosis complex (TSC). This case highlights the importance of a multidisciplinary approach for early TSC identification due to its multi-organ involvement. Timely detection is crucial for monitoring progression and reducing long-term complications. We aim to raise clinicians' awareness of this uncommon late presentation of TSC, its cutaneous markers, and the role of imaging in early detection, even in patients without childhood neurological symptoms. The purpose of this case report is to alert clinicians to this rare late presentation of TSC, raise awareness of the cutaneous markers of TSC, and underscore the role of imaging in the early detection of the disease, particularly in those patients who did not exhibit neurological symptoms during their childhood. Furthermore, this case illustrates the remarkable variability in the manifestation of this disorder, both in terms of the age at which symptoms appear and the severity of the illness.