Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Area of Science:

• Genetics
• Oncology
• Pharmacology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant disorder linked to mutations in TSC1 or TSC2 tumor suppressor genes.
• Dysregulated mammalian target of rapamycin (mTOR) pathway activity in TSC leads to benign tumors (hamartomas) treated with mTOR inhibitors.
• Hemihypertrophy, a rare TSC complication causing limb overgrowth, has not been previously studied for mTOR inhibitor efficacy.

Observation:

• A case of TSC-associated hemihypertrophy was investigated.
• Genetic analysis identified TSC1 loss of heterozygosity as the cause of hemihypertrophy in this patient.

Findings:

• Pharmacological treatment with the mTOR inhibitor sirolimus was administered.
• Sirolimus successfully ameliorated the cosmetic and functional problems associated with hemihypertrophy.

Implications:

• This case demonstrates the potential efficacy of mTOR inhibitors in managing TSC-associated hemihypertrophy.
• Sirolimus offers a promising therapeutic option for improving quality of life in TSC patients with this rare complication.
• Further research may explore mTOR inhibitors for other non-tumor manifestations of TSC.