Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• SAGE open medical case reports, 2024, Vol.12, p.2050313X241252342-2050313X241252342

Erscheinungsjahr

2024

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.