Of snakes and babies: intrathoracic stomach and vertebral rachischisis. A serpentine-like syndrome?
Snakes have intrathoracic stomachs and rachischisis-like spinal vertebrae. These anomalies are rare in babies and have not been previously described in combination in the English medical literature. Here we present 2 cases of total intrathoracic stomach with a foreshortened esophagus, cervical spine rachischisis, and splenic anomalies in newborns. Both had 46, XX karyotypes. The first case was initially treated with mobilization of the stomach into the abdomen. However, at 18 months the stomach was found to have retracted back into the thorax. Subsequently, the patient received a Collis gastroplasty and G-tube. Two-year follow-up is available. The second case exhibited the abovementioned anomalies along with absence of toes 3 and 4 on the right foot, and cardiac anomalies not compatible with life. The parents chose to withdraw support. The encountered abnormalities may be explained by a first trimester mesenchymal insult and share some similarities with the VACTERL association. In our experience, mobilization of the stomach into the abdomen without elongation of the esophagus will fail. If tolerated, the management of the intrathoracic stomach should include preoperative intragastric feedings to allow time for gastric enlargement followed by a Collis gastroplasty. The management of cervical rachischisis requires assessment of cervical spine stability and cervical immobilization. As other life-threatening birth defects may be present, thorough evaluation should be completed before counseling the families of the treatment options available.
Katz
Michael S
MS
Department of Pediatric Surgical Services, Women and Children's Hospital of Buffalo, Buffalo, NY 14222, USA.
Hess
Donavon J
DJ
Caty
Michael G
MG
Khan
Abdur R
AR
Glick
Philip L
PL
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000628:therapy*; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D016135:Spinal Dysraphism / Q000175:diagnosis / Q000628:therapy*; D013270:Stomach / Q000002:abnormalities* / Q000601:surgery