我们报告了一例4周大的女性新生儿,患有Jeune窒息性胸廓营养不良(JATD)和共存的位置异常,主要表现为胃动力障碍。孩子出生后出现腹胀和非胆汁性呕吐,未能茁壮成长。然而,骨骼调查显示JATD。上消化道造影研究显示坐位倒置伴胃排空延迟。幽门活检和术中十二指肠前测压证实了胃动力障碍的关联。意识到Jeune综合征作为胃动力障碍的异常可能性将改善此类婴儿的管理方法。
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.