Esophago‐gastric motility and nutritional management in a child with ATR‐X syndrome

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 inves...

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Veröffentlicht in:Pediatrics international 2014-08, Vol.56 (4), p.e48-e51
Hauptverfasser: Watanabe, Toshihiko, Arai, Katsuhiro, Takahashi, Masataka, Ohno, Michinobu, Sato, Kaori, Fuchimoto, Yasushi, Wada, Takahiko, Ida, Shinobu, Kawahara, Hisayoshi, Kanamori, Yutaka
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container_end_page e51
container_issue 4
container_start_page e48
container_title Pediatrics international
container_volume 56
creator Watanabe, Toshihiko
Arai, Katsuhiro
Takahashi, Masataka
Ohno, Michinobu
Sato, Kaori
Fuchimoto, Yasushi
Wada, Takahiko
Ida, Shinobu
Kawahara, Hisayoshi
Kanamori, Yutaka
description 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.
doi_str_mv 10.1111/ped.12402
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source MEDLINE; Wiley Online Library Journals Frontfile Complete
subjects alpha-Thalassemia - physiopathology
ATR‐X syndrome
Digestive system
Esophageal Motility Disorders - complications
Esophagus - physiopathology
gastroesophageal reflux
Gastrointestinal diseases
Humans
Infant, Newborn
Male
Medical treatment
Mental Retardation, X-Linked - physiopathology
motility
nutritional access
Ostomy
Pediatrics
PEG‐J
Stomach - physiopathology
title Esophago‐gastric motility and nutritional management in a child with ATR‐X syndrome
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