Ma Mengting, Wu Nan, Feng Jie, Sang Xu, Duan Feixiang, Li Congcong, Zhang Qiang
Department of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Molecular Diagnosis Center, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Front Pediatr. 2025 Jul 28;13:1628525. doi: 10.3389/fped.2025.1628525. eCollection 2025.
A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited widening of the distal femoral metaphysis with an "Erlenmeyer flask deformity." Subsequent enzymatic and genetic evaluations for Gaucher disease (GD) confirmed reduced β-glucocerebrosidase (GBA) activity, significantly elevated glucosylsphingosine (Lyso-Gb1) levels, and a homozygous missense mutation in the gene c. 1448T>C(p.Leu483Pro). Genetic testing of the parents revealed both were heterozygous carriers of the same mutationc. 1448T>C(p.Leu483Pro), confirming the diagnosis of GD in the child with an autosomal recessive inheritance pattern. GD typically presents in childhood with hepatosplenomegaly, anemia, and thrombocytopenia. Given its rarity and nonspecific clinical manifestations, bone marrow cytology and imaging studies may provide diagnostic clues, but definitive diagnosis requires confirmation through β-glucocerebrosidase activity assays and genetic testing. Enzyme replacement therapy (ERT) is currently the primary treatment modality. The child is receiving regular intravenous infusions of imiglucerase at our hospital.
一名2岁患者因肝脾肿大作为突出临床特征入院。住院期间外周血分析显示三系血细胞减少。骨髓细胞学检查发现大量疑似戈谢细胞。全脊柱MRI显示股骨远端干骺端增宽，呈“烧瓶样畸形”。随后对戈谢病（GD）进行的酶学和基因评估证实β-葡萄糖脑苷脂酶（GBA）活性降低，葡萄糖基鞘氨醇（Lyso-Gb1）水平显著升高，基因c.1448T>C（p.Leu483Pro）存在纯合错义突变。对父母的基因检测显示两人均为同一突变c.1448T>C（p.Leu483Pro）的杂合携带者，证实该儿童诊断为常染色体隐性遗传模式的GD。GD通常在儿童期表现为肝脾肿大、贫血和血小板减少。鉴于其罕见性和非特异性临床表现，骨髓细胞学和影像学检查可能提供诊断线索，但明确诊断需要通过β-葡萄糖脑苷脂酶活性测定和基因检测来确认。酶替代疗法（ERT）是目前的主要治疗方式。该儿童正在我院接受伊米苷酶的定期静脉输注。
