Kim Eun Ah, Lim Young Tae, Hah Jeong Ok, Sohn Young Bae, Kim Yu Kyung, Choi Joon Hyuk, Kim Sae Yoon, Jang Kyung Mi, Ahn JiYoung, Lee Jae Min
Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Republic of Korea.
Department of Pediatrics, Daegu Fatima Hospital, Daegu, Republic of Korea.
Int J Hematol. 2019 Mar;109(3):361-365. doi: 10.1007/s12185-018-2559-3. Epub 2018 Nov 19.
Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplementation for 3 months. White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively. The patient had microcytic hypochromic anemia with mildly elevated ferritin. Physical examination revealed hepatosplenomegaly. Bone-marrow aspiration showed sheets of Gaucher cells. Glucocerebrosidase activity in monocytes was significantly lower than normal. Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD. Enzyme replacement treatment (ERT) consisting of imiglucerase was initiated and was effective; WBC, Hb, and platelet count gradually normalized and the hepatosplenomegaly improved. However, when the patient entered elementary school, he showed mild impaired cognitive function, and supranuclear gaze palsy occurred the same year. He was ultimately diagnosed with type 3 GD and continued ERT. Pediatric hemato-oncologists should be aware of GD, especially when patients exhibit anemia refractory to iron therapy, radiologic bone deformity, neurologic signs or symptoms, and growth retardation.
戈谢病（GD）是由葡萄糖脑苷脂酶遗传性缺乏引起的，导致葡萄糖神经酰胺蓄积，并可能表现为肝脾肿大。我们报告一例15个月大患有慢性神经病变型GD的男孩病例。尽管持续补铁3个月，该患者仍长期贫血。白细胞计数（WBC）、血红蛋白（Hb）、血小板计数和校正网织红细胞计数分别为3300/µL、8.7g/dL、90000/µL和0.55。患者为小细胞低色素性贫血，铁蛋白轻度升高。体格检查发现肝脾肿大。骨髓穿刺显示有大量戈谢细胞。单核细胞中的葡萄糖脑苷脂酶活性显著低于正常水平。基因分析显示GBA基因存在纯合L444P突变，他被诊断为1型GD。开始使用伊米苷酶进行酶替代治疗（ERT），治疗有效；白细胞计数、血红蛋白和血小板计数逐渐恢复正常，肝脾肿大也有所改善。然而，当患者进入小学时，他出现了轻度认知功能受损，同年还发生了核上性凝视麻痹。他最终被诊断为3型GD并继续接受ERT治疗。儿科血液肿瘤学家应了解GD，尤其是当患者出现对铁治疗无效的贫血、放射学骨畸形、神经体征或症状以及生长发育迟缓时。
