Mucopolysaccharidosis VII: report of a case and review of the literature.
- Author:
Yong-lan HUANG
1
;
She-yong LI
;
Xiao-yuan ZHAO
;
Hong-sheng LIU
;
Xiao-bing OU
;
Li LIU
Author Information
- Publication Type:Case Reports
- MeSH: Glucuronidase; metabolism; Glycosaminoglycans; urine; Humans; Infant; Leukocytes; enzymology; Male; Mucopolysaccharidosis VII
- From: Chinese Journal of Pediatrics 2011;49(6):455-458
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.
METHODThe clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.
RESULTThe 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.
CONCLUSIONSevere 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.
