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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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 Report
LanguageEnglish
Published 01.01.2024
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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.
Bibliography:ObjectType-Case Study-2
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SourceType-Reports-1
ObjectType-Report-1
ISSN:2050-313X
2050-313X
DOI:10.1177/2050313X241252342