Niemann Pick Tip C Hastalarında Yutma ve Vestibülokoklear Fonksiyon Değerlendirmesi

Abstract

Niemann-Pick Disease (NPD) is an inherited metabolic disorder, part of lysosomal storage diseases spectrum. Since early 1980’s the “Niemann-Pick Disease” group of disorders has been divided into two distinct entities: (1) acid sphingomiyelinase deficiencies (type A and B) and (2) Niemann-Pick Disease type C (resulting from defficiency of either NPC1 or NPC2 transport proteins). Niemann-Pick type C (NPC) disease is a fatal, autosomal recesive disorder that affects approximately 1 in 150 000 / 120 000 live births. In typical patients, the neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia and progressive dementia. Sixteen patients were enrolled in this study. The median age was 8 years. All patients’ otorhinolaryngologic examinations were conducted, upper airway endoscopies were done and neurological parameters were registered. Special attention was paid to the hearing and swallowing states of the patients. 87.5% of patients had delayed ingestion reflexis,37.5% of the patients showed silent aspiration, 43.5% of the patients showed objective aspiration. Each patients’ PEN-ASP scale and disease time was compared, it showed up to be (p<0.05) istatistically non relevant. In the auditory test battery, 21.9% of the patients showed aberrant tympanometry results. The most common auditory brainstem response abnormalities observed were poor wave-form morphology, characterised by absent waves I and III. The combination of the data indicates these patients are at risk for a progressive decline in auditory function. Despite the heterogenity of the sample, results among patients were sufficiently consistent to implicate lower brain stem dysfunction in the majority of the patients. Awareness and early diagnosis of otorhinolaryngologic manifestations of these patients is important, as early treatment and rehabilitation may prolong life time and increase the quality of life of these patients. Keywords: Niemann-Pick Type C, dysphagia, auditory phenotype, computerized dynamic posturography.