Kalyon Semih, Gökden Yasemin, Demirel Naciye, Erden Burak, Türkyılmaz Ayberk
Department of Internal Medicine, Health Sciences University Okmeydanı Training and Research Hospital, İstanbul, Turkey.
Department of Gastroenterology, Health Sciences University Okmeydanı Training and Research Hospital, İstanbul, Turkey.
Turk J Gastroenterol. 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014.
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. A 38-year-old male patient was referred to our Internal Medicine Clinic for consultation with laboratory findings as follows: high aspartate aminotransferase (AST; 203 U/L), alanine aminotransferase (ALT; 151 U/L), gamma-glutamyl transferase (GGT; 167 U/L), creatine kinase (CK; 1127 U/L) levels and low platelet levels (108000). After ultrasonography and gastroscopy, the patient was diagnosed with liver cirrhosis. Bilateral mixed-type hearing loss on audial tests and bilateral punctuate keratopathy, ectropion, and cataract in the left eye on ophthalmological tests were found. For the definitive diagnosis of Chanarin Dorfman syndrome, peripheral blood was examined, which revealed lipid accumulation in the neutrophils (Jordan's anomaly). We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.
钱纳林-多尔夫曼综合征是一种累及多系统、极为罕见的常染色体隐性脂质贮积病，其特征为中性粒细胞内脂质空泡蓄积，于1974年由多尔夫曼首次描述。由于3号染色体短臂上的ABHD5基因突变，脂质在人体多个部位的粒细胞中蓄积，如肌肉、肝脏、眼睛、耳朵、中枢神经系统和骨髓。临床上，该疾病表现为鱼鳞病、听力丧失、肝肿大、脾肿大、肝硬化、白内障、角膜病变、肌病和智力发育迟缓。一名38岁男性患者因以下实验室检查结果转诊至我们的内科门诊咨询：天冬氨酸转氨酶（AST；203 U/L）、丙氨酸转氨酶（ALT；151 U/L）、γ-谷氨酰转移酶（GGT；167 U/L）、肌酸激酶（CK；1127 U/L）水平升高，血小板水平降低（108000）。经超声检查和胃镜检查，该患者被诊断为肝硬化。听力测试发现双侧混合型听力丧失，眼科检查发现左眼有双侧点状角膜病变、睑外翻和白内障。为明确诊断钱纳林-多尔夫曼综合征，对患者外周血进行了检查，结果显示中性粒细胞内有脂质蓄积（乔丹氏异常）。我们强调，如果患者出现鱼鳞病、听力丧失、肝肿大、脾肿大、肝硬化、白内障、角膜病变、肌病和智力发育迟缓等异常表现，应考虑钱纳林-多尔夫曼综合征的可能性。
