Neonatal Presentation of Tuberous Sclerosis Complex Diagnosed through Macrodactyly: A Case Report

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder that affects multiple organ systems. TSC2 mutations are associated with more severe phenotypes, including early-onset epilepsy, developmental delay, and various hamartomatous lesions. Macrodactyly is an exceptionally rare manifestation of TSC.

We report a male newborn born to consanguineous parents who was found to have macrodactyly at birth and subsequently underwent genetic testing, which revealed a heterozygous c.1195G>T (p.Glu399Ter) variant in the TSC2 gene (NM_000548.5). The patient presented with unilateral macrodactyly involving the third, fourth, and fifth digits of the left hand. Additional findings included multiple intracardiac rhabdomyomas, subependymal and cortical tubers, infantile epilepsy, hypopigmented skin lesions, pulmonary hypertension, and vascular malformations. During follow-up, a palpable swelling in the axillary region was identified as an arterial malformation via angiography, and limb amputation was prevented through surgical intervention. Developmental assessments revealed global developmental delays, with relatively better outcomes in language development.

This case underlines the importance of considering macrodactyly as a rare but notable early finding in TSC2-related cases. It also emphasizes the need for comprehensive systemic evaluations and close developmental monitoring in neonates with suspected TSC.