Multimodality approach of tuberous scelerosis patient: in case series of three patients

Abstract

Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disorder marked by the formation of benign tumors in various organs due to mutations in the TSC1 or TSC2 genes. The disorder presents with a wide range of clinical features, including neurological symptoms such as seizures, developmental delays, and cognitive impairments. The role of multimodality  imaging , particularly ultrasonography (USG), is crucial in detecting additional abnormalities that may not be visible through other diagnostic methods.

Objective: This study aims to assess  in detecting renal angiomyolipomas and other organ abnormalities in TSC patients, complementing findings from other imaging modalities .

Methods: A case series of three TSC patients was analyzed. All patients underwent ultrasonography using the GE Vivid T8 machine for real-time imaging of renal structures. Additional imaging, including MRI and CT, was performed using Siemens and Philips systems. Clinical features and diagnostic findings, including the presence of renal angiomyolipomas, cortical tubers, and subependymal giant cell astrocytomas, were documented.

Results: Ultrasonography revealed renal angiomyolipomas in all three patients. Patient 1 showed moderate clinical features, while Patient 2 had severe bilateral angiomyolipomas. Patient 3 presented with subependymal giant cell astrocytoma. The findings underscore the role of USG in detecting organ abnormalities in TSC, with 83% of patients showing angiomyolipomas and 100% showing cortical tubers on CT/MRI..

Conclusion: Ultrasonography is a valuable tool for detecting and monitoring organ involvement in TSC patients. It serves as an effective complement to MRI and CT,

particularly in resource-limited settings. Further studies should explore its potential in early diagnosis and longitudinal monitoring.