Multiorgan developmental anomalies presenting as a variation of the serpentine-like syndrome: cervical fusion and brachioesophagus with intrathoracic stomach and malposition of duodenopancreas and spleen.
Congenital brachioesophagus with secondary intrathoracic stomach is an extremely rare condition. In association with rachischisis, the latter condition has been described recently as "serpentine-like syndrome." We report here a unique case of a male infant with normal karyotype from healthy nonconsanguinous parents, presenting with a complex malformative syndrome combining ultrashort brachioesophagus with intrathoracic stomach, duodenum, pancreas, and spleen associated with short neck because of posterior fusion and scoliosis. This case report details aspects of diagnostic and management of this unusual clinical presentation and includes a review of the literature.
Deprez
Fabrice C
FC
Radiology Department, Cliniques St Luc-UCL, Brussels, Belgium.
Debauche
Christian
C
Clapuyt
Philippe
P
de Ville de Goyet
Jean
J
D002574:Cervical Vertebrae / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D004386:Duodenum / Q000002:abnormalities; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010179:Pancreas / Q000002:abnormalities; D011247:Pregnancy; D011256:Pregnancy Outcome; D013154:Spleen / Q000002:abnormalities; D013270:Stomach / Q000002:abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal