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Neuropediatrics
DOI: 10.1055/a-2502-6417
Short Communication

Swallowing Assessment in a Pediatric Case of Allan–Herndon–Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing

Nina Scholtes
1   Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany
,
Evelyn Jelesch
1   Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany
,
Paul Diesener
2   Center for Dysphagia and Tracheostomy Care, Hegau-Jugendwerk, Gailingen am Hochrhein, Germany
,
Johannes C. Stoffels
1   Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany
,
Thomas M.K Völkl
3   Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany
4   Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany
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Abstract

Patients with MCT8 deficiency often present with underweight and are prone to frequent pulmonary infections, including aspiration pneumonia. Despite commonly reported swallowing difficulties in this population, specific dysphagia symptoms have not been well-documented. We conducted a flexible endoscopic evaluation of swallowing (FEES) on a young boy diagnosed with MCT8 deficiency, who exhibited recurrent pulmonary infections and failed to achieve substantial weight gain despite an oral energy intake appropriate for his age and height. The FEES revealed generally weakened swallowing mechanisms, characterized by prolonged swallow and cough sequences, along with penetration and aspiration of both fluid and semi-solid test boluses. Given the considerable effort associated with oral intake, we hypothesize that dysphagia contributes to his underweight status, alongside peripheral thyrotoxicosis. In conclusion, FEES proved to be an invaluable tool in identifying underlying swallowing impairments and assessing the need for gastrostomy in this patient. For MCT8 deficiency, patients presenting with underweight, frequent pulmonary infections, and swallowing difficulties, it is recommended that diagnostic evaluations include FEES to thoroughly assess their swallowing function and airway protection.

Keywords

MCT8 - dysphagia - swallowing - aspiration - FEES


Publikationsverlauf

Eingereicht: 01. Oktober 2024

Angenommen: 13. Dezember 2024

Accepted Manuscript online:
16. Dezember 2024

Artikel online veröffentlicht:
08. Januar 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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