Open AccessPrimary presentation of Jeune’s syndrome as gastric motility disorder in an infant: A case report
Author(s) -
Amit Katyan,
Shabnam Bhandari Grover,
Heena Rajani,
Deepak Bagga,
Neha Antil
Publication year - 2018
Publication title -
indian journal of radiology and imaging - new series/indian journal of radiology and imaging/indian journal of radiology and imaging
Language(s) - English
Resource type - Journals
eISSN - 0971-3026
pISSN - 0970-2016
DOI - 10.4103/ijri.ijri_303_17
Subject(s) - medicine , failure to thrive , abdominal distension , vomiting , situs inversus , presentation (obstetrics) , gastric distension , pediatrics , stomach , gastric emptying , gastroenterology , surgery
We report a case of a 4-week-old female neonate with Jeune’s asphyxiating thoracic dystrophy (JATD) and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.