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Infantile Sandhoff disease with ventricular septal defect: a case report

Abstract Background Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the l...

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Principais autores: Jamal Khaled Sahyouni, Luma Bassam Mahmoud Odeh, Fahad Mulla, Sana Junaid, Subhranshu Sekhar Kar, Naheel Mohammad Jumah Al Boot Almarri
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-08-01
coleção:Journal of Medical Case Reports
Assuntos:
Infantile Sandhoff disease
Ventricular septal defect
Hexosaminidase
Neuroregression
Cherry-red spots
Hypotonia
Acesso em linha:https://doi.org/10.1186/s13256-022-03550-0
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