Nanchang University Affiliated Infectious Diseases Hospital, General Surgery, Nanchang, Jiangxi, China.
J Int Med Res. 2023 Dec;51(12):3000605231220887. doi: 10.1177/03000605231220887.
Gaucher disease is a rare, autosomal recessive disorder caused by inborn errors of metabolism. Globally, more than 27 million people are born each year, and approximately 19,000 neonates are born with lysosomal storage disease. We report a rare case of Gaucher disease in an adult female patient of non-consanguineous parents in a subtropical area of Jiangxi Province, China. This area has a high prevalence of schistosomiasis. The diagnosis of this case posed a great challenge because of the possible differential diagnoses of pancytopenia with hepatomegaly and giant splenomegaly. The key component of the patient's diagnosis was her medical history in which it was documented that her brother had died of hepatocellular carcinoma of unknown origin. We diagnosed the patient through a combination of a pathological biopsy and imaging plus the patient's medical history.
戈谢病是一种罕见的常染色体隐性遗传代谢疾病。全球每年有超过 2700 万人出生，大约有 19000 名新生儿患有溶酶体贮积症。我们报告了一例中国江西省亚热带地区非近亲结婚的成年女性戈谢病患者。该地区血吸虫病发病率很高。由于全血细胞减少伴肝大和巨脾的可能鉴别诊断，该病例的诊断极具挑战性。该患者的关键诊断依据是她的病史，其中记录她的哥哥死于不明原因的肝细胞癌。我们通过病理活检、影像学检查和患者的病史综合诊断了该患者。
