%0 Journal Article
%T Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report
%A Dilek BADAY KESK£¿N
%J -
%D 2019
%X Niemann Pick disease type C is a rare, progressive lysosomal lipid storage disease and is inherited in an autosomal recessive manner. Clinical presentation of Niemann Pick disease type C is very heterogeneous. Early diagnosis and appropriate approach including symptomatic and disease-specific treatment can improve the patient¡¯s quality of life. Because of neurological manifestations of the disease, rehabilitation must be a part of the treatment for protecting patients from complications of illness and immobilization. To the best of our knowledge, the rehabilitation protocol for Niemann Pick disease type C has not been reported before. In this article, we presented an 8-year-old female patient who was diagnosed with Niemann Pick disease Type C five years ago and was not able to ambulate for the last one year. She received a comprehensive rehabilitation program for eight weeks in addition to miglustat treatment
%K Metabolik hastal£¿k
%K Niemann Pick hastal£¿£¿£¿ tip C
%U http://dergipark.org.tr/tchd/issue/44097/539088