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

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...

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Bibliographic Details
Published inSAGE open medical case reports Vol. 12; p. 2050313X241252342
Main Authors Karki, Susmin, Bhatta, Pramish, Parajuli, Asmita, Kumari, Khusbu, Rijal, Divas, Harrylal, Kayleigh Anjali, Gautam, Shristi, Sharma, Arun Kumar
Format Journal Article
LanguageEnglish
Published London, England SAGE Publications 01.01.2024
Sage Publications Ltd
SAGE Publishing
Subjects
Case Report
Neurocutaneous syndrome
tuberous sclerosis
rhabdomyoma
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Summary: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.
ISSN:2050-313X
2050-313X
DOI:10.1177/2050313X241252342