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

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.</p><p dir="ltr">Case Presentation: 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.