Mucopolysaccharidosis VII: report of a case and review of the literature / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 455-458, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-277024
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.</p><p><b>METHOD</b>The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.</p><p><b>RESULT</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Urine
/
Mucopolysaccharidosis VII
/
Glucuronidase
/
Glycosaminoglycans
/
Leukocytes
/
Metabolism
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Pediatrics
Year:
2011
Type:
Article
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