以非免疫性胎儿水肿、先天性乳糜胸和先天性肺淋巴管扩张症为表现的亨内坎综合征。

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

作者信息

Bellini Carlo, Mazzella Massimo, Arioni Cesare, Campisi Corradino, Taddei Gioconda, Tomà Paolo, Boccardo Francesco, Hennekam Raoul C, Serra Giovanni

机构信息

Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genoa, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy.

出版信息

Am J Med Genet A. 2003 Jul 1;120A(1):92-6. doi: 10.1002/ajmg.a.20180.

DOI:10.1002/ajmg.a.20180

PMID:12794699

Abstract

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.

摘要

我们报告了一名患有先天性淋巴水肿、面部异常、肠道淋巴管扩张的女婴，符合亨内坎综合征的诊断。出生时，该患者因非免疫性胎儿水肿、先天性乳糜胸（CC）和肺淋巴管扩张而出现严重呼吸窘迫。亨内坎综合征的新生儿可能出现胎儿水肿。淋巴闪烁显像有助于解释这种全身性淋巴管畸形综合征的胸膜-肺部受累情况。