A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis

다국어 초록 (Multilingual Abstract)

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time. (Korean J Pediatr 2008;51:650-654)

참고문헌 (Reference)

1 Muenzer J, "The mucopolysaccharidoses: a heterogenous group of disorders with variable pediatric presentations" 144 (144): S27-S34, 2004

2 Neufeld EF, "The mucopolysaccharidoses" McGraw Hill 8 : 3421-3452, 2001

3 Kilimann MW, "Protein dysfunction and human genetic disease" BIOS Scientific publishers 57-75, 1997

4 Chen YT, "Nelson textbook of pediatrics. 17th ed" WB Saunders Co 469-475, 2004

5 Kliegman RM, "Nelson textbook of pediatrics. 17th ed" WB Saunders Co 482-486, 2004

6 Froissart R, "Mucopolysaccharidosis type II-genotype/phenotype aspects" 91 : 82-87, 2002

7 Barbara B, "Manfred WK. Severe phenotype of phophorylase kinase deficiency liver glycogenosis with mutations in the PHK2 gene" 65 : 834-839, 2003

8 Hendricks J, "Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver á-subunit of phosphorylase kinase (PHKA2)" 21 : 620-625, 1994

9 Resnick JM, "Light and electron microscopic features of the liver in mucopolysaccharidosis" 25 : 276-286, 1994

10 Stenson PD, "Human gene mutation database: 2003 update" 21 : 577-581, 2003

11 Safiye G, "Histologic features of the liver in Type Ia glycogen storage disease: comparative study between different age groups and consecutive biopsies" 5 : 299-304, 2002

12 Colleen ML, "High-resolution light microscopy and digital analysis of Pompe disease pathology" 53 : 63-73, 2005

13 Parfrey NA, "Hepatic fibrosis in the mucopolysaccharidoses" 81 : 825-829, 1986

14 Shin YS, "Glycogen storage disease: clinical, biochemical and molecular heterogeneity" 13 : 115-120, 2006

15 Wenger SL, "Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation" 58 : 409-, 2000

16 Arion WJ, "Evidence for the participation of independent translocases for phosphate and glucose 6-phosphate in the microsomal glucose 6-phosphatase system" 255 : 10396-10406, 1980

17 Shin YS, "Diagnosis of glycogen storage disease" 13 : 419-434, 1990

18 Podskarbi T, "Clinical and biochemical variability of glycogen storage disease" 118-131, 1995

19 Franke U, "Assignment of human genes for phosphorylase kinase subunit á (PHKA) to Xq12- q13 and â (PHKB) to 16q12-q13" 45 : 276-282, 1989

20 Tsuyoshi Y, "An adult case with Hunter syndrome presenting prominent hepatic failure: light and electron microscopic features of the liver" 45 : 1133-1135, 2006