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Article

Infantile Sandhoff disease with ventricular septal defect: a case report.

Journal of medical case reports - 25 Aug 2022

Sahyouni Jamal Khaled, Odeh Luma Bassam Mahmoud, Mulla Fahad, Junaid Sana, Kar Subhranshu Sekhar, Al Boot Almarri Naheel Mohammad Jumah

Abstract excerpt

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 lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and...

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Identifiers

PMID: 36002893
DOI: 10.1186/s13256-022-03550-0
PMCID: PMC9404584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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