Year 2019, Volume 13, Issue 2, Pages 116 - 119 2019-03-25

Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report
Rehabilitasyon Niemann Pick Hastalığı Tip C Tanılı Hastalarda Tedavinin Önemli Bir Ayağıdır: Olgu Sunumu

Dilek BADAY KESKİN [1]

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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. 

Niemann Pick hastalığı Tip C nadir görülen, progresif, otozomal resesif bir lipid depo hastalığıdır. Niemann Pick hastalığı Tip C’nin klinik prezentasyonu oldukça farklılık göstermektedir. Erken tanı ve uygun yaklaşım (semptomatik ve hastalığa spesifik tedaviler) hastaların yaşam kalitesini artırmaktadır. Hastalığın nörolojik manifestasyonları nedeniyle, hastaları hastalık ve immobilizasyon komplikasyonlarından korumak için, rehabilitasyon tedavinin bir parçası olmalıdır. Bildiğimiz kadarıyla daha önce Niemann Pick hastalığı Tip C’nin rehabilitasyon protokolü bildirilmemiştir. Yazıda beş yıl önce Niemann Pick hastalığı Tip C tanısı konan, bir yıldır ambule olamayan 8 yaşında kız hasta sunulmaktadır. Hastaya miglustat tedavisinin yanı sıra sekiz hafta süre ile kapsamlı rehabilitasyon programı uygulanmıştır. 

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Primary Language en
Subjects General and Internal Medicine
Journal Section CASE REPORTS
Authors

Author: Dilek BADAY KESKİN (Primary Author)
Institution: Ankara Fizik Tedavi ve Rehabilitasyon Eğitim ve Araştırma Hastanesi, Fiziksel Tıp ve Rehabilitasyon Bölümü ANKARA

Bibtex @case report { tchd539088, journal = {Türkiye Çocuk Hastalıkları Dergisi}, issn = {1307-4490}, eissn = {2148-3566}, address = {University of Health Science Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital}, year = {2019}, volume = {13}, pages = {116 - 119}, doi = {10.12956/tjpd.2018.358}, title = {Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report}, key = {cite}, author = {BADAY KESKİN, Dilek} }
APA BADAY KESKİN, D . (2019). Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report. Türkiye Çocuk Hastalıkları Dergisi, 13 (2), 116-119. DOI: 10.12956/tjpd.2018.358
MLA BADAY KESKİN, D . "Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report". Türkiye Çocuk Hastalıkları Dergisi 13 (2019): 116-119 <http://dergipark.gov.tr/tchd/issue/44097/539088>
Chicago BADAY KESKİN, D . "Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report". Türkiye Çocuk Hastalıkları Dergisi 13 (2019): 116-119
RIS TY - JOUR T1 - Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report AU - Dilek BADAY KESKİN Y1 - 2019 PY - 2019 N1 - doi: 10.12956/tjpd.2018.358 DO - 10.12956/tjpd.2018.358 T2 - Türkiye Çocuk Hastalıkları Dergisi JF - Journal JO - JOR SP - 116 EP - 119 VL - 13 IS - 2 SN - 1307-4490-2148-3566 M3 - doi: 10.12956/tjpd.2018.358 UR - https://doi.org/10.12956/tjpd.2018.358 Y2 - 2019 ER -
EndNote %0 Turkish Journal of Pediatric Disease Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report %A Dilek BADAY KESKİN %T Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report %D 2019 %J Türkiye Çocuk Hastalıkları Dergisi %P 1307-4490-2148-3566 %V 13 %N 2 %R doi: 10.12956/tjpd.2018.358 %U 10.12956/tjpd.2018.358
ISNAD BADAY KESKİN, Dilek . "Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report". Türkiye Çocuk Hastalıkları Dergisi 13 / 2 (March 2019): 116-119. https://doi.org/10.12956/tjpd.2018.358