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 "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated