Watanabe Toshihiko, Arai Katsuhiro, Takahashi Masataka, Ohno Michinobu, Sato Kaori, Fuchimoto Yasushi, Wada Takahiko, Ida Shinobu, Kawahara Hisayoshi, Kanamori Yutaka
Department of Surgical Subspecialties, Division of Surgery, National Center for Child Health and Development, Tokyo, Japan.
Pediatr Int. 2014 Aug;56(4):e48-51. doi: 10.1111/ped.12402.
X-linked alpha thalassemia mental retardation (ATR-X) syndrome is an X-linked recessive disorder that often involves gastrointestinal symptoms. Aspiration pneumonia related to gastroesophageal reflux has been reported as the major cause of death, but gastrointestinal function has not been well investigated. The present report describes a child with ATR-X syndrome who suffered from periodical episodes of refractory vomiting. We investigated the function of upper alimentary tract and found that esophago-gastric dysmotility and severe gastric volvulus were the major causes of gastrointestinal symptoms. This child was surgically treated with anterior gastropexy and jejunal alimentation through gastrostomy, and the symptoms were relieved with good weight gain. This report may provide insight into the gastrointestinal function and nutritional management in children with ATR-X syndrome.
X连锁α地中海贫血智力发育迟缓（ATR-X）综合征是一种X连锁隐性疾病，常伴有胃肠道症状。据报道，与胃食管反流相关的吸入性肺炎是主要死因，但胃肠道功能尚未得到充分研究。本报告描述了一名患有ATR-X综合征的儿童，该儿童反复出现难治性呕吐。我们对上消化道功能进行了研究，发现食管-胃动力障碍和严重胃扭转是胃肠道症状的主要原因。该患儿接受了前位胃固定术和经胃造口空肠营养的手术治疗，症状得到缓解，体重增加良好。本报告可能为了解ATR-X综合征患儿的胃肠道功能和营养管理提供见解。
