The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 4
Assessment of auditory functions in patients with hepatic glycogen storage diseases
Merve Emecen Şanlı 1 ,Nuriye Yıldırım Gökay 2 ,Hakan Tutar 3 ,Bülent Gündüz 2 ,Ekin Özsaydı 1 ,Ayşe Kılıç 1 ,Aslı İnci 1 ,İlyas Okur 1 ,Fatih Ezgü 1 ,Leyla Tümer 1
1 Departments of Pediatric Inborn Errors of Metabolism Gazi University Faculty of Medicine, Ankara, Turkey
2 Department of Audiology, Gazi University Faculty of Health Sciences, Ankara, Turkey
3 Departments of Otorhinolaryngology, Gazi University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2022.142 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss and nocturnal feeding is a risk factor for the development of gastroesophageal reflux that may cause chronic otitis media and hearing loss consequently. We aimed to determine the prevalence and characteristics of hearing loss in hepatic glycogen storage diseases.

Methods. A total of 24 patients with hepatic glycogen storage disease (15 glycogen storage disease type I and 9 non type I) and 24 age/sex matched healthy controls were enrolled in the study. Pure tone audiometer, immitansmetry, acoustic reflex measurement, otoacoustic emission test (OAE) and auditory brainstem response (ABR) tests were applied to all participants.

Results. Hearing loss was determined in 17/24 patients (12 glycogen storage disease type I and 5 non type I) with pure tone audiometer. Interpretation of all the findings revealed a total of 8 patients had conductive and 9 had mixed hearing loss. All parameters were significantly different than the control group.

Conclusions. This is the first study to comprehensively assess the auditory functions of patients with hepatic glycogen storage disease. Audiological findings determined a significantly increased prevalence of conductive/ mixed type hearing loss in the patient group which is a new finding in the literature. Further studies with extended patient numbers are required to enlighten the underlying pathophysiology. Keywords : glycogen storage disease, hearing loss, auditory function, nocturnal feeding, hypoglycemia

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