Extensive cervical spine and foregut anomaly in 'serpentine syndrome'.

INTRODUCTION: 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. PRESENTATION OF CASE: 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. DISCUSSION: 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. CONCLUSION: 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.

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

Inborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of the mitochondrial trifunctional protein (MTP). This enzyme catalyses three steps in the beta-oxidation of long-chain fatty acids. Three of the patients were homozygous for the 'common' 1528G>C mutation in the alpha-subunit of the MTP, giving rise to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The fourth patient did not carry this mutation but had severely decreased activities of long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketoacyl-CoA thiolase. One patient died and histology in this patient showed severe interstitial pulmonary fibrosis. The other three patients recovered after being ventilated for up to 6 months. The high frequency of ARDS in patients with MTP defects suggests that this inborn error may be a risk factor for ARDS.