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Gastroesophageal dysfunction in Brachmann-de Lange syndrome
Y Rosenbach1, I Zahavi, G Dinari
1Division of Pediatric Gastroenterology, Beilinson Medical Center, Petah Tiqva, Israel.
American Journal of Medical Genetics
|February 1, 1992
Summary
Brachmann-de Lange syndrome patients with severe gastroesophageal reflux may benefit from early surgical intervention. Prompt surgical treatment can significantly reduce complications and mortality in these children.
Area of Science:
- Pediatrics
- Gastroenterology
- Genetics
Background:
- Brachmann-de Lange syndrome (BDS) is a rare genetic disorder associated with significant medical comorbidities.
- Severe gastroesophageal reflux is a challenging complication in children with BDS, leading to serious health issues.
Observation:
- Two pediatric cases of BDS with severe gastroesophageal reflux, esophagitis, and recurrent anemia are presented.
- One child experienced recurrent aspiration pneumonia and clubbing, highlighting the severity of reflux complications.
Findings:
- Medical management of gastroesophageal reflux was ineffective in both described cases.
- Surgical intervention led to a dramatic improvement in one child, while the other succumbed to the condition before surgery could be performed.
Implications:
- Early surgical intervention for gastroesophageal reflux in BDS patients is crucial.
- Timely surgical treatment can potentially decrease morbidity and mortality rates associated with this syndrome.