Tuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical...

This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules. Genetic testing confirmed the diagnosis of tuberous sclerosis complex, identifying a mutation in the TSC2 gene.The entire family was evaluated for inherited disorders, leading to the detection of tuberous sclerosis in three adult offspring and a grandchild. The uncharacteristic neurological and cardiac manifestations in the proband are noteworthy. Another important aspect is the missed diagnosis in patients despite obvious clinical features and interaction with healthcare facilities, reflecting a gap in disease awareness and a lack of clinical vigilance.