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KMID : 0918520170170020055
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 2 p.55 ~ p.62
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A Case of an 18-month-old Boy with Type 3 Gaucher Disease Presenting with Hepatosplenomegaly and Growth Retardation: The Clinical Course after Enzyme Replacement Therapy
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Lim Young-Shin
Hwang Jeong-Yun
Kim Jin-Sup
Yang A-Ram
Park Hyung-Doo
Jeon Tae-Yeon
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.
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KEYWORD
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Gaucher disease, Glucocerebrosidase, Hepatosplenomegaly, Growth retardation, Enzyme replacement therapy
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