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Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
1Department of Pediatrics, Ohio State University College of Medicine, Columbus.
Insights
Gastroesophageal reflux is common in infants and can lead to Sandifer complex. Early recognition of reflux in Brachmann-de Lange syndrome patients may prevent severe symptoms and surgical intervention.
Area of Science:
- Pediatric Neurology
- Gastroenterology
Background:
- Gastroesophageal reflux is frequent in infancy.
- Severe complications include torticollis, opisthotonus, and paroxysmal dystonic posture, collectively known as Sandifer complex.
Purpose of the Study:
- To investigate the prevalence of gastroesophageal reflux and Sandifer complex in patients with Brachmann-de Lange syndrome.
- To explore the potential for early intervention to mitigate severe complications.
Main Methods:
- Retrospective examination of 17 patients diagnosed with Brachmann-de Lange syndrome (age range: 9 months to 19 years).
- Assessment for evidence of gastroesophageal reflux and Sandifer complex-consistent behaviors.
Main Results:
- 13 out of 17 patients (76%) exhibited gastroesophageal reflux.
- A significant proportion of these patients also displayed posturing and behaviors characteristic of the Sandifer complex.
- The mean age of patients studied was 11 years.
Conclusions:
- Gastroesophageal reflux and Sandifer complex are highly prevalent in Brachmann-de Lange syndrome.
- Early identification and medical management of reflux may prevent the full manifestation of Sandifer complex.
- Medical treatment is preferred over surgical intervention when possible.
Abstract:
Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9 months to 19 years (mean age 11 years) with the Brachmann-de Lange syndrome for evidence of gastroesophageal reflux and found that 13 had not only reflux, but also posturing and behavior consistent with the Sandifer complex. We propose that early recognition of gastroesophageal reflux in these patients may prevent the full picture of the Sandifer complex and allow for medical treatment rather than surgical intervention.