SAGE Open Medical Case Reports (May 2024)

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

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

DOI
https://doi.org/10.1177/2050313X241252342
Journal volume & issue
Vol. 12

Abstract

Read online

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.