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- Title
Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report.
- Authors
BADAY KESKİN, Dilek; TİFTİK, Tülay; DALYAN, Meltem; SEVİM KALIN, Ayşe
- Abstract
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.
- Subjects
MEDICAL rehabilitation; TREATMENT of lipidoses; QUALITY of life
- Publication
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2019, Vol 13, Issue 2, p116
- ISSN
1307-4490
- Publication type
Case Study
- DOI
10.12956/tjpd.2018.358