Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review

oleh: Susmin Karki, Pramish Bhatta, Asmita Parajuli, Khusbu Kumari, Divas Rijal, Kayleigh Anjali Harrylal, Shristi Gautam, Arun Kumar Sharma

Format: Article
Diterbitkan: SAGE Publishing 2024-05-01

Deskripsi

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.