title: [A complicated case study: Hennekam syndrome].
abstract: 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 superficial 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 confirmed. 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 findings and genetic tests.
authors.affiliation: Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China. duanydong@sina.com.
authors.forename: Xiao-Lu
authors.initials: XL
authors.lastname: Deng
authors.forename: Fei
authors.initials: F
authors.lastname: Yin
authors.forename: Guo-Yuan
authors.initials: GY
authors.lastname: Zhang
authors.forename: Yuan-Dong
authors.initials: YD
authors.lastname: Duan
mesh_terms: D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D005832:Genital Diseases, Male / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D006801:Humans; D008201:Lymphangiectasis, Intestinal / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D008209:Lymphedema / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D008297:Male; D013577:Syndrome