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

[alpha-thalassemia]

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 .

Diseases
Validation

Diseases presenting "aspiration pneumonia" symptom

alexander disease

alpha-thalassemia

gm1 gangliosidosis

kabuki syndrome

This symptom has already been validated