Tuberous sclerosis complex with multisystem involvement: A case report

Tuberous sclerosis complex is a rare, autosomal dominant disorder caused by pathogenic variants in the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 genes, leading to constitutive activation of the mammalian target of rapamycin pathway and abnormal cell growth. Tuberous sclerosis complex is characterized by benign hamartomas affecting multiple organs, most commonly the brain, skin, kidneys, heart, and lungs. Clinical manifestations vary depending on the organs involved and disease severity. We report the case of a Chinese woman in her mid-30s who presented with progressive dyspnea. Her medical history included hypertension, intellectual disability, seizures, left nephron-sparing enucleation for renal angiomyolipoma, and hysterectomy for uterine smooth muscle tumors. Physical examination revealed classic features of tuberous sclerosis complex, including facial angiofibromas and periungual fibromas. Imaging demonstrated a right-sided pleural effusion. Thoracoabdominal imaging showed pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas with hemorrhage. Genetic testing identified three pathogenic variants in the tuberous sclerosis complex 2 gene. A multidisciplinary team confirmed the diagnosis of tuberous sclerosis complex with multisystem involvement. This case highlights the multisystem heterogeneity of tuberous sclerosis complex and underscores the importance of an interdisciplinary approach to diagnosis and management.