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KMID : 0918520170170020063
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 2 p.63 ~ p.68
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A Case of a 2-year-old Girl with Type I Gaucher Disease Presenting with Growth Retardation and Leg Pain
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Park Ye-Sul
Hwang Jae-Yeon
Hwang Eun-Ha
Cheon Chong-Kun
Lee Beom-Hee
Yoo Han-Wook
Kim Yoo-Mi
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Abstract
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Gaucher disease (GD) is caused by the deficiency of glucocerebrosidase. In pediatric patients with GD, especially Type I GD, enzyme replacement therapy (ERT) can reduce the hepatosplenomegaly and improve the hematologic finding and growth velocity. Herein, we report a 2-year-old girl with Type I GD presented with hepatosplenomegaly, bone pain and growth retardation. A 2 year-old-girl was referred to our hospital due to severe hepatosplenomegaly and growth retardation. She suffered from both leg pain and chronic fatigue. Simple x-ray showed widened distal long bones like that of an ‘Erlenmeyer flask’ which is associated with GD. The laboratory test showed anemia and thrombocytopenia. The enzyme activity was markedly reduced and the direct sequencing of the GBA gene showed the compound heterozygous mutations, p.G46E and p.L444P. As the G46E have been considered as the protective gene against neuronopathic genotype, we could assess the Type I GD in this patient. After one year of ERT, the growth velocity became 11 cm per year. Bone pain and fatigue disappeared. The volume of liver and spleen was reduced from 683 cm3 and 703 cm3 to 590 cm3 and 235 cm3, respectively. Although GD is an extremely rare disease in Korea, growth retardation and bone pain in children are the important signs which lead to early detection of GD and a simple radiologic finding is helpful
to assess the GD at outpatient clinic. We highlight that the early diagnosis and early ERT is important for good growth and outcome for pediatric patients with GD.
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KEYWORD
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Gaucher disease, GBA, Growth, Bone pain, Enzyme replacement therapy
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