Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly.

Mucopolysaccharidosis type VII (Sly syndrome), a rare lysosomal storage disorder caused by deficiency of the enzyme -glucuronidase, was first reported in 1973 in a two year old boy with hepatosplenomegaly, skeletal abnormalities and moderate mental retardation (1). MPS type VII is unusual amongst the MPS syndromes in that it can manifest clinically in the newborn period often in association with hydrops fetalis, however transient functional liver abnormalities have also been described. We report a neonate with MPS type VII who presented with significant cholestatic jaundice and hepatosplenomegaly and provide a review of the literature.

• Publication year

  2001

• Venue

  Journal of Pediatric Gastroenterology and Nutrition - JPGN

• Publication date

  2001-08-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00005176-200108000-00025PMID 11568529
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Mucopolysaccharidosis type VII presenting as neonatal cholestasis

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