Add time:10/01/2019         Source:infona.pl

We report an extremely rare and challenging combination of congenital anomalies. Only five similar cases have been described in the English language medical literature to date.A male infant was born at 30+5 weeks gestation by emergency caesarian section. Cervical spine rachischisis, shortened oesophagus, intrathoracic stomach, atretic duodenum and absent spleen were noted, in addition to respiratory insufficiency. Gastrointestinal re-anastomosis, particularly oesophageal lengthening, was not feasible at the initial thoracotomy. Surgical stabilization of the cervical spine was unlikely to be successful until two years of age. Asplenia predisposed the infant to sepsis from encapsulated organisms, and recurrent respiratory infections occurred.A close relationship exists between the upper gastrointestinal tract and cervical spine during embryonic development. An embryonic aberration at this level could account for all the deformities present in this infant. Tethering of the embryonic cervical oesophagus to the somites in the first trimester, preventing foregut elongation, and producing ischaemia at the coeliac axis, is suggested as the aetiology.This case presented a challenge to the multi-disciplinary team involved in his management and prompted extensive consultation with international experts. After considerable counseling of the parents, care was directed towards palliation.

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