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Postinflammatorial stenoses of the pharynx in a child with Barth-syndrome
Ulla Folger1, Holger Cario, Annette Panis
1Department of Otorhinolaryngology, University of Ulm, Prittwitzstrasse 73, 89075 Ulm, Germany. ulla.folger@medizin.uni-ulm.de
Insights
A boy with Barth syndrome experienced severe swallowing difficulties and aspiration pneumonia due to pharyngeal stenosis. Transoral pharyngoplasty successfully restored oral nutrition, resolving his breathing and feeding issues.
Area of Science:
- Pediatric Medicine
- Genetics
- Surgical Innovation
Background:
- Barth syndrome (X-chromosomal cardioskeletal myopathy, neutropenia, abnormal mitochondria) can present with complex complications.
- Post-infectious pharyngeal stenosis is a rare but severe complication impacting swallowing and respiration.
Purpose of the Study:
- To describe the successful surgical management of post-infectious pharyngeal stenosis in a child with Barth syndrome.
- To evaluate the long-term efficacy of transoral pharyngoplasty in restoring oral nutrition and improving quality of life.
Main Methods:
- Endoscopic diagnosis of scarred pharyngeal stenoses.
- Surgical intervention using transoral pharyngoplasty.
- Post-operative monitoring of swallowing function, respiratory status, and nutritional intake.
Main Results:
- The patient required tracheostomy and percutaneous endoscopic gastrostomy tube placement due to severe dysphagia and aspiration pneumonia.
- Following transoral pharyngoplasty, the patient achieved successful transoral nutrition 35 months post-surgery.
- Tracheostomy was closed and gastrostomy tube removed; no further complaints related to residual stenosis were noted during a 40-month follow-up.
Conclusions:
- Transoral pharyngoplasty is an effective treatment for severe post-infectious pharyngeal stenosis in pediatric patients, even those with complex underlying conditions like Barth syndrome.
- Surgical restoration of pharyngeal function can significantly improve quality of life by enabling oral nutrition and decannulation.
Abstract:
We report about a boy with Barth-syndrome (X-chromosomal cardioskeletal myopathy, neutropenia and abnormal mitochondria) and postinflammatorial pharyngeal stenosis. After a pseudomembranous pharyngitis he developed a dyspnea and an inability to swallow with a resultant aspiration pneumonia. After endoscopic diagnosis of scarred pharyngeal stenoses the child required a tracheostomy and a percutaneous endoscopic gastrostomy tube. Then the boy underwent transoral pharyngoplastic surgery. Thirty five months after pharyngoplasty transoral nutrition was feasible. The tracheostomy was closed and the gastrostomy tube was removed. Throughout a 40 month period of observation the child had no more complaints relating to the minor residual pharyngeal stenoses.