A complicated case study: Hennekam syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 77-80, 2015.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-289465
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Syndrome
/
Therapeutics
/
Craniofacial Abnormalities
/
Diagnosis
/
Genital Diseases, Male
/
Lymphangiectasis, Intestinal
/
Lymphedema
Type of study:
Diagnostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2015
Document type:
Article