Abstract
Purpose: Tuberous sclerosis (TS), also referred to as Pringle-Bourneville’s syndrome, is an inherited autosomal dominant disor-
der triggered by mutations in the TSC1 or TSC2 genes. While roughly half of cases are hereditary, the rest are sporadic, poten-
tially comprising up to 80% of cases. Characterized by hamartomas in multiple organs, TS presents varied clinical manifesta-
tions, even among closely related individuals, complicating diagnosis. Diagnostic criteria include two major or one major and
two minor criteria, with nine of the twenty requiring imaging. Radiology is crucial in diagnosing TS, particularly for identifying
renal lesions such as angiomyolipomas, cysts, and renal cell carcinoma, and liver angiomyolipomas. This review focuses on the
renal and liver US imaging fi ndings in patients with TS.
Material and Methods: Prospective observational study was conducted in a tertiary university hospital. Clinical and radiological
fi ndings were prospectively assessed.
This case series involved two patients diagnosed with TS. The fi rst patient was a 42-year-old female, and the second was a
41-year-old male. Both patients underwent comprehensive ultrasound examinations to identify and characterize hepatic and
renal lesions. Lesions were assessed for number, size, echogenicity, and presence of complications such as hemorrhage or
cystic degeneration. The imaging fi ndings were correlated with clinical data to analyse the characteristics of hepatic and renal
involvement in TS.
Result: Both patients in this study have previously known TS and underwent control ultrasound examinations. Similar ultra-
sound fi ndings were observed in both cases. Renal ultrasound revealed multiple bilateral angiomyolipomas (AMLs), with the
largest lesions measuring 4.6 cm and 1 cm in diameter, respectively. Additionally, both patients exhibited multiple small simple
cysts in both kidneys, with no acute complications such as haemorrhage noted. Hepatic ultrasound fi ndings included small
hepatic AMLs in both patients, with the largest hepatic lesions measuring 0.5 cm, respectively.
Conclusion: Tuberous sclerosis presents multi-organ manifestations, where radiology plays a crucial role in diagnosing and
managing patients with Tuberous Sclerosis. Ultrasound imaging in two TSC patients revealed signifi cant renal involvement,
marked by bilateral AMLs and cysts, and minor hepatic AMLs. These fi ndings are similar to those reported in the literature, un-
derscoring the need for regular ultrasound monitoring. Further studies with larger cohorts are necessary to better understand
the spectrum and progression of hepatic and renal lesions in TSC
der triggered by mutations in the TSC1 or TSC2 genes. While roughly half of cases are hereditary, the rest are sporadic, poten-
tially comprising up to 80% of cases. Characterized by hamartomas in multiple organs, TS presents varied clinical manifesta-
tions, even among closely related individuals, complicating diagnosis. Diagnostic criteria include two major or one major and
two minor criteria, with nine of the twenty requiring imaging. Radiology is crucial in diagnosing TS, particularly for identifying
renal lesions such as angiomyolipomas, cysts, and renal cell carcinoma, and liver angiomyolipomas. This review focuses on the
renal and liver US imaging fi ndings in patients with TS.
Material and Methods: Prospective observational study was conducted in a tertiary university hospital. Clinical and radiological
fi ndings were prospectively assessed.
This case series involved two patients diagnosed with TS. The fi rst patient was a 42-year-old female, and the second was a
41-year-old male. Both patients underwent comprehensive ultrasound examinations to identify and characterize hepatic and
renal lesions. Lesions were assessed for number, size, echogenicity, and presence of complications such as hemorrhage or
cystic degeneration. The imaging fi ndings were correlated with clinical data to analyse the characteristics of hepatic and renal
involvement in TS.
Result: Both patients in this study have previously known TS and underwent control ultrasound examinations. Similar ultra-
sound fi ndings were observed in both cases. Renal ultrasound revealed multiple bilateral angiomyolipomas (AMLs), with the
largest lesions measuring 4.6 cm and 1 cm in diameter, respectively. Additionally, both patients exhibited multiple small simple
cysts in both kidneys, with no acute complications such as haemorrhage noted. Hepatic ultrasound fi ndings included small
hepatic AMLs in both patients, with the largest hepatic lesions measuring 0.5 cm, respectively.
Conclusion: Tuberous sclerosis presents multi-organ manifestations, where radiology plays a crucial role in diagnosing and
managing patients with Tuberous Sclerosis. Ultrasound imaging in two TSC patients revealed signifi cant renal involvement,
marked by bilateral AMLs and cysts, and minor hepatic AMLs. These fi ndings are similar to those reported in the literature, un-
derscoring the need for regular ultrasound monitoring. Further studies with larger cohorts are necessary to better understand
the spectrum and progression of hepatic and renal lesions in TSC
Original language | English |
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Pages | 115-116 |
Publication status | Published - 9 Nov 2024 |
Event | 35th Congress of the European Federation of Scocieties for ultrasound in medicine and biology (EUROSON 2024) - Naples, Italy Duration: 9 Nov 2024 → 11 Nov 2024 Conference number: 35 https://eventi.siumb.it/euroson2024/wp-content/uploads/2024/11/ABSTRACT-BOOK-euroson_ULTIMO.pdf |
Congress
Congress | 35th Congress of the European Federation of Scocieties for ultrasound in medicine and biology (EUROSON 2024) |
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Country/Territory | Italy |
City | Naples |
Period | 9/11/24 → 11/11/24 |
Internet address |
Keywords*
- Tuberous sclerosis
- Pringle-Bourneville’s syndrome
- angiomyolipomas
- liver angiomyolipomas
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)