A complicated case study: Hennekam syndrome.
- Author:
Xiao-Lu DENG
1
;
Fei YIN
;
Guo-Yuan ZHANG
;
Yuan-Dong DUAN
Author Information
1. Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China. duanydong@sina.com.
- Publication Type:Case Reports
- MeSH:
Child, Preschool;
Craniofacial Abnormalities;
diagnosis;
etiology;
therapy;
Genital Diseases, Male;
diagnosis;
etiology;
therapy;
Humans;
Lymphangiectasis, Intestinal;
diagnosis;
etiology;
therapy;
Lymphedema;
diagnosis;
etiology;
therapy;
Male;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2015;17(1):77-80
- CountryChina
- Language:Chinese
-
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.
