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Pediatric Voice Disorders from the Perspective of Rare Diseases
Sibel Yıldırım1, Ebru Karakaya Gojayev1, Zahide Çiler Büyükatalay1
1Department of Otorhinolaryngology Head and Neck Surgery, Faculty of Medicine, Ankara University, Ankara, Turkey.
Insights
Rare pediatric voice disorders, including lipoid proteinosis, neurofibroma, and amyloidosis, present unique diagnostic challenges. Recognizing systemic signs and discrepancies in laryngeal exams is crucial for timely diagnosis and effective treatment of these uncommon conditions.
Area of Science:
- Otolaryngology
- Pediatric Medicine
- Rare Diseases
Background:
- Pediatric voice disorders are often attributed to common causes.
- Rare laryngeal pathologies in children are infrequently reported, typically as isolated case studies.
- Early identification of rare conditions is essential for appropriate management and prognosis.
Purpose of the Study:
- To review rare pediatric voice disorders, detailing their clinical features, treatment, and outcomes.
- To highlight clinical indicators associated with rare diseases presenting as dysphonia in children.
- To improve the diagnostic approach for children with uncommon laryngeal conditions.
Main Methods:
- Retrospective review of pediatric patients with dysphonia from 2014-2019.
- Defined rare diseases based on prevalence thresholds (40-50 cases/100,000 people).
- Analyzed age, gender, symptoms, laryngeal findings, histopathology, treatments, and follow-up for identified rare pathologies.
Main Results:
- Seven pediatric patients with rare laryngeal pathologies were identified among 274 voice disorder cases.
- Diagnoses included lipoid proteinosis (4), neurofibroma (2), and amyloidosis (1).
- Dysphonia was the initial presentation in most cases, with one patient having a known history of neurofibromatosis type-1.
Conclusions:
- Systemic manifestations often accompany rare pediatric voice disorders.
- Discrepancies between voice quality and endoscopic findings warrant reconsideration of diagnosis.
- Persistent dysphonia resistant to treatment necessitates reassessment of diagnosis or management strategies.
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.
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