Belated Diagnosis in a Case of Neurocutaneous Syndrome

Neurocutaneous syndromes are genetic disorders characterized by skin and neurologic abnormalities, often involving multisystem hamartomas, and require early recognition and lifelong management.Among these, Tuberous sclerosis complex (TSC) is a rare autosomal dominant multisystem disorder characterized by hamartomatous growths involving the brain, skin, kidneys, heart, and lungs.Although usually identified in childhood, delayed diagnosis can occur in adults, particularly in resource-limited settings.We report a 37-year-old woman presenting with severe flank pain and hematuria, found to have bilateral renal angiomyolipomas with spontaneous rupture.She had a lifelong history of seizures, developmental delay, and multiple dermatologic lesions including facial angiofibromas, shagreen patches, periungual fibromas, and ash-leaf macules.Imaging demonstrated cortical tubers, subependymal nodules, pulmonary lymphangioleiomyomatosis, and ocular astrocytic hamartomas.Genetic analysis revealed a pathogenic TSC2 exon 41 deletion, confirming the diagnosis.The patient met multiple major criteria for TSC and was managed with anticonvulsants, transfusions, supportive care, and multidisciplinary evaluation.This case emphasizes that TSC may remain unrecognized until adulthood and highlights the importance of thorough clinical assessment and genetic testing to guide timely management.