Multisystem Involvement in Tuberous Sclerosis Complex: Incidentally Detected Subependymal Giant Cell Astrocytoma with Extensive Abdomino-visceral Manifestations

Abstract

Background
Tuberous sclerosis complex is a multisystem genetic disorder characterized by hamartomatous lesions involving the brain, kidneys, skin, lungs, heart, and hepatobiliary system. Although typically recognized in childhood, attenuated phenotypes may remain undiagnosed until adulthood, particularly when seizures, cognitive impairment, or cutaneous stigmata are absent.
Case Report
A 47-year-old woman presented with insidious dull aching right flank pain without haematuria, fever, weight loss, seizures, headache, visual symptoms, focal neurological deficit, or altered sensorium. She had no family history or clinical cutaneous features suggestive of tuberous sclerosis complex. Contrast-enhanced computed tomography of the abdomen revealed bilateral enlarged kidneys with
multiple well-defined fat-containing lesions consistent with multifocal renal angiomyolipomas, including a dominant 8 cm exophytic right renal angiomyolipoma with increased hemorrhagic risk. Additional findings included multiple hepatic fat-density lesions, a mildly enhancing fat-rich hepatic angiomyolipoma, and multiple tiny pancreatic lipomas. In view of multisystem fat-containing lesions,
an underlying phakomatosis was suspected. Non-contrast computed tomography of the brain demonstrated a well-defined partially calcified hyperdense lesion near the right foramen of Monro, consistent with subependymal giant cell astrocytoma, along with multiple calcified subependymal nodules showing a characteristic “candle-guttering” appearance and a right parietal cortical tuber.
There was no hydrocephalus. The combined intracranial and abdomino-visceral imaging findings established the diagnosis of tuberous sclerosis complex. The patient was advised multidisciplinary follow-up and imaging surveillance, particularly for the large renal angiomyolipoma and intracranial
lesion.
Conclusion
Tuberous sclerosis complex may present for the first time in adulthood with extensive multisystem involvement despite absence of classical clinical manifestations. Comprehensive cross-sectional imaging is crucial for diagnosis, assessment of disease burden, risk stratification, and long-term surveillance.