title: [Mucopolysaccharidosis VII: report of a case and review of the literature].
abstract: OBJECTIVE
  To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.
  
  
  METHODS
  The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.
  
  
  RESULTS
  The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls: 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes.
  
  
  CONCLUSIONS
  Severe form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.
authors.affiliation: Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
authors.forename: Yong-lan
authors.initials: YL
authors.lastname: Huang
authors.forename: She-yong
authors.initials: SY
authors.lastname: Li
authors.forename: Xiao-yuan
authors.initials: XY
authors.lastname: Zhao
authors.forename: Hong-sheng
authors.initials: HS
authors.lastname: Liu
authors.forename: Xiao-bing
authors.initials: XB
authors.lastname: Ou
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D005966:Glucuronidase / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D016538:Mucopolysaccharidosis VII
chemical_list: D006025:Glycosaminoglycans; D005966:Glucuronidase