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January 14, 2026Clinical Case Reports0 citationsOpen Access

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

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HRHamim RushekeTSTawfeeq SangeyHKHumphrey Kiwelu

Key Points

  • This report aims to highlight the delayed diagnosis of Tuberous Sclerosis Complex (TSC) and its diverse presentations.
  • Case report of a 31-year-old woman with abdominal distension, loin pain, and severe anemia.
  • Imaging through computed tomography (CT) scans of renal masses and the head evaluated for calcified nodules.
  • Multidisciplinary approach emphasizing the importance of cross-specialty collaboration.
  • Patient diagnosed with Tuberous Sclerosis Complex after scan revealed renal angiomyolipomas and calcified nodules.
  • Emphasizes the significance of timely imaging for proper diagnosis of TSC and its manifestations.

Abstract

ABSTRACT 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.

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Cite This Study

Rusheke et al. (2026) studied this question.

synapsesocial.com/papers/6966e72c13bf7a6f02bffb0dhttps://doi.org/10.1002/ccr3.71820
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