Wieloukładowe cechy obrazowe stwardnienia guzowatego: Pierwsza seria przypadków z Somalii wraz ze szczegółowym przeglądem piśmiennictwa

Abstract Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant multisystem disorder caused by pathogenic variants in the TSC1 or TSC2 genes, resulting in hamartomatous lesions involving the brain, skin, kidneys, heart, lungs, and other organs. Early recognition is essential to reduce disease-related morbidity; however, diagnosis remains challenging in resource-limited settings where molecular genetic testing is unavailable. We report the first case series of TSC from Somalia, highlighting the pivotal role of multimodality imaging in establishing the diagnosis. Case Presentation: We report here two Somali patients with different clinical phenotypes who met the updated 2021 International Tuberous Sclerosis Complex Consensus diagnostic criteria. The first patient was a 5-year-old girl with refractory epilepsy, developmental delay, facial angiofibromas, hypomelanotic macules, and bilateral renal angiomyolipomas. Brain magnetic resonance imaging (MRI) showed multiple cortical and subcortical tubers, radial migration lines and subependymal nodules. The second patient was a 22-year-old woman with longstanding drug resistant epilepsy, typical facial angiofibromas and a hypomelanotic macule. Brain MRI was performed with multiple cortical tubers, lines of radial migration and subependymal nodules. Abdominal ultrasonography revealed no renal abnormalities. Molecular genetic testing was not performed; however, both patients met the criteria for a definite diagnosis of TSC based on characteristic clinical and radiological findings. Conclusion This case series represents the first reported cases of tuberous sclerosis complex from Somalia and underscores the essential role of MRI and ultrasonography in the diagnosis of TSC. Our findings demonstrate that adherence to the updated 2021 International Tuberous Sclerosis Complex Consensus clinical diagnostic criteria allows confident diagnosis even in the absence of molecular genetic testing. Increased awareness of the multisystem imaging spectrum of TSC may facilitate earlier recognition, appropriate surveillance, and multidisciplinary management, particularly in resource-limited healthcare settings.