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Progressive esophageal dysfunction in chronic granulomatous disease
Insights
Chronic granulomatous disease of childhood (CGD) rarely affects the esophagus. This case highlights progressive esophageal dysmotility in an 11-year-old boy with CGD, requiring a feeding gastrostomy for support.
Area of Science:
- Gastroenterology
- Immunology
- Pediatrics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder characterized by impaired neutrophil function.
- Gastrointestinal manifestations are common in CGD, but esophageal involvement is exceptionally rare.
Observation:
- An 11-year-old male patient with a diagnosis of CGD presented with progressive esophageal dysmotility.
- Diagnostic evaluations including radiography, endoscopy, and esophageal manometry were performed.
Findings:
- The studies revealed a markedly atonic esophagus with abnormal lower esophageal sphincter (LES) function.
- Standard treatments, including pharmacologic agents and esophageal dilations, failed to improve esophageal function.
Implications:
- This case underscores the potential for severe esophageal complications in pediatric CGD patients.
- Esophageal dysmotility should be considered in the differential diagnosis of gastrointestinal symptoms in children with CGD.
- Management may require specialized nutritional support, such as a feeding gastrostomy, for affected individuals.
Abstract:
Chronic granulomatous disease of childhood (CGD), a hereditary disorder of neutrophil function, affects the gastrointestinal tract in a variety of ways. Esophageal involvement has only rarely been reported. An 11-year-old boy with CGD and progressive esophageal dysmotility is described. Repeated radiographic, endoscopic, and motility studies revealed a markedly atonic esophagus with varying function of the lower esophageal sphincter. Pharmacologic therapy and esophageal dilatations were unsuccessful in establishing adequate esophageal function. A feeding gastrostomy was required for nutritional support.