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. 

Keywords: Metabolic disease, Niemann Pick disease type C

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Copyright and license

How to cite

1.
Baday Keskin D. Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report. Turk J Pediatr Dis [Internet]. 2019 Mar. 26 [cited 2025 May 25];13(2):116-9. Available from: https://turkjpediatrdis.org/article/view/631