Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.
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.
Bellini
Carlo
C
Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genoa, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy. carlobellini@ospedale-gaslini.ge.it
Mazzella
Massimo
M
Arioni
Cesare
C
Campisi
Corradino
C
Taddei
Gioconda
G
Tomà
Paolo
P
Boccardo
Francesco
F
Hennekam
Raoul C
RC
Serra
Giovanni
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002916:Chylothorax / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics*; D008198:Lymph Nodes / Q000473:pathology; D008200:Lymphangiectasis / Q000175:diagnosis / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics; D013902:Radiography, Thoracic; D013577:Syndrome; D014057:Tomography, X-Ray Computed