Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review.
Susmin KarkiPramish BhattaAsmita ParajuliKhusbu KumariDivas RijalKayleigh Anjali HarrylalShristi GautamArun Kumar SharmaPublished in: SAGE open medical case reports (2024)
Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging. We report a rare case of a 30-day-old male born out of a non-consanguineous marriage who presented with poor suckling and persistent abnormal body movement, required prolonged intensive care, and was diagnosed with tuberous sclerosis with multisystem involvement.