疑难病研究——Hennekam综合征

A complicated case study: Hennekam syndrome

Hennekam综合征(Hennekam syndrome,HS)是一种罕见的以先天性淋巴管发育不良为特点的常染色体隐性遗传疾病。该文报道1例以生长发育延迟和低白蛋白血症为主要临床表现的男性HS幼儿。患儿1岁7个月时出现水肿,喂养困难,体重不增,体查发现鼻梁扁平,双眼睑中度肿胀,眼距宽,牙齿末端粉末状脱落,全身浅表淋巴结肿大,十二指肠球部病理学检查示个别淋巴管明显扩张,白蛋白、球蛋白同时下降,颈部肿块彩超、磁共振及腹部磁共振、CT等检查示多部位淋巴管瘤。据此,患儿诊断为HS。目前发现CCBE1和FAT4基因突变参与了部分HS的发病。HS的确诊需结合家族史、临床特征、病理检查和基因分析结果。

Hennekam syndrome （HS） is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies （hypertelorism, flat nasal bridge and flat face）, fracture of teeth, and superifcial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus conifrmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological ifndings and genetic tests.