Tuberous sclerosis complex with multisystem involvement: A case report.

Area of Science:

• Genetics
• Oncology
• Rare Diseases

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 or TSC2 genes.
• It leads to abnormal cell growth and benign hamartomas in various organs, including the brain, skin, kidneys, heart, and lungs.
• Clinical manifestations are highly variable, depending on the organs affected and disease severity.

Purpose of the Study:

• To report a case of Tuberous Sclerosis Complex (TSC) in a Chinese woman presenting with progressive dyspnea.
• To illustrate the multisystemic heterogeneity and diagnostic challenges of TSC.
• To emphasize the importance of an interdisciplinary approach in managing TSC.

Main Methods:

• Case report of a Chinese woman in her mid-30s.
• Detailed medical history review, including hypertension, intellectual disability, seizures, and prior surgeries for renal angiomyolipoma and uterine tumors.
• Physical examination for classic TSC features, thoracoabdominal imaging (CT/MRI), and genetic testing for TSC1/TSC2 variants.

Main Results:

• The patient presented with dyspnea, facial angiofibromas, and periungual fibromas.
• Imaging revealed pulmonary lymphangioleiomyomatosis, bilateral renal angiomyolipomas with hemorrhage, and pleural effusion.
• Genetic testing identified three pathogenic variants in the TSC2 gene, confirming multisystem TSC.

Conclusions:

• This case underscores the significant clinical heterogeneity of Tuberous Sclerosis Complex (TSC).
• Early and accurate diagnosis through a combination of clinical, imaging, and genetic findings is crucial.
• Multidisciplinary management is essential for addressing the complex, multisystemic nature of TSC.