Pediatric Voice Disorders from the Perspective of Rare Diseases
| Autor: | Ebru Karakaya Gojayev, Sibel Yıldırım, Gürsel Dursun, Zahide Çiler Büyükatalay |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Amyloidosis Treatment options LPN and LVN medicine.disease Pediatric voice 030507 speech-language pathology & audiology 03 medical and health sciences Speech and Hearing 0302 clinical medicine Otorhinolaryngology Medicine Neurofibroma Neurofibromatosis Presentation (obstetrics) 030223 otorhinolaryngology 0305 other medical science business Clinical record Rare disease |
| Zdroj: | Journal of Voice. |
| ISSN: | 0892-1997 |
| Popis: | Summary Objective This study aims to present rare pediatric voice disorders, which are usually reported as case reports in the literature, with their clinical features, treatment options, and prognosis, and to emphasize clinical findings that may be associated with rare diseases. Methods The clinical records of the pediatric patients presented with dysphonia were reviewed between 2014 and 2019. The terminology “rare disease” is used to describe diseases where the average prevalence thresholds are between 40 to 50 cases/100,000 people. Age, gender, symptoms, laryngeal examination findings, histopathological results, treatment modalities and follow-up results of rare laryngeal pathologies were reviewed. Results 274 children were diagnosed with and treated for voice disorders at our institution. Seven patients were identified with rare laryngeal pathologies. Four patients diagnosed with lipoid proteinosis, two patients with neurofibroma and one patient with amyloidosis. One patient was known to have neurofibromatosis type-1, while the others did not have any previously diagnosed diseases, dysphonia was the initial clinical presentation. Conclusion There are some clues that bring to mind rare entities. Firstly, these patients generally present with various systemic manifestations. Secondly, if there is any discrepancy between voice quality and endoscopic laryngeal examination, the diagnosis should be reconsidered. Thirdly, in the case of the prolonged dysphonia recalcitrant to treatment, the clinician should reassess the treatment or the diagnosis. |
| Databáze: | OpenAIRE |
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