Niemann-Pick Tip C Hastalarında Nörolojik Bulgular ve Tanı Yaşı Üzerine Etkilerinin Değerlendirilmesi

Abstract

Niemann-Pick type C is a neurovisceral lysosomal storage disorder. Due to the variety of clinical manifestations, suspicion index scales have been developed for the purpose of early diagnosis. In addition, to monitor the changes in clinical findings after treatment, disability scales were created. The primary purpose of this study is to reveal the mean age at diagnosis of our patients and determine the distribution of neurological signs is to show the effect on the age at diagnosis. Secondary objective is the demonstration of clinical and radiological follow-up of patients receiving treatment. In our study Niemann-Pick Type C were diagnosed of 16 patients, the diagnosis is doubtful of 5 patients and the diagnosis has been ruled out of 3 patients were retrospectively studied. The mean time to diagnosis is 24 months. In this study, the most common neurological sign of NP-C is developmental delay(84.7%). In order of frequency VSBP (69.2%), ataxia (61.5%), dysarthria, seizures and hypotonia (46.1%), dysphagia, and cataplexy (38.9%) and dystonia (15.3%) are other neurological signs. Significant difference was obsereved between the suspcion index scores of patients under 2 years of age and above 2 years of age. Also, signiicant difference was observed between the fist and 4th total disabilitiy scores (P=0.008). Common and non-diagnostic symptoms as hypotonia and developmental delay should be considered in combination with early systemic features to route to diagnosis. Lower suspicion index scores under 2 years of age is associated with de later occurence of neurological signs. The oxysterol levels sholud be inculded in the suspicion index scoring. Owing to the progression of symptoms in patients under treatment, the use of oxysterol levels for diagnosis should be widespread and new treatment options are needed.