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

Abstract

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.

<p>Head and Eye Trauma Before Retinoblastoma Diagnosis</p>

“…In a previous report, a delay in the diagnosis of RB accounted for an increased risk of highly advanced disease and mortality,3,4,15 including enucleation in eight eyes (8 patients), a high risk of poor histology in six eyes (6 patients), and death in 20% of the patients in this study. Duration of symptoms longer than 9 months was previously shown to be a prognostic factor for a poor outcome 3,4. However, in our study, the mean time interval between trauma and RB treatment was 4.7 weeks.…”

“…In recent years, researchers have reported a decrease in highly advanced tumors and tumors with a poor prognosis that has been attributed to early recognition and less mistreatment of these conditions 4. However, a clear-cut history of trauma may also mask the diagnosis of RB in patients with various ocular complications, such as anterior chamber hemorrhage,5 secondary glaucoma,6 panophthalmitis,7 and traumatic cataract,8 and mislead the clinician, causing them to take inappropriate management measures, including cataract surgery,8 vitrectomy,9,10 and trabeculectomy 9.…”