Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case Report
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.
References
- 1. Abela L, Plecko B, Palla A, Burda P, Nuoffer J-M, Ballhausen D, et al. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: A retrospective Swiss cohort study. Orphanet J Rare Dis 2014;9:176.
- 2. Burlina A. Niemann-Pick disease type C: Introduction and main clinical features. J Neurol 2014; 261 Suppl:S525-7.
- 3. Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: An expert-based clinical description. Orphanet J Rare Dis 2013;8:166.
- 4. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
- 5. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab 2012;106:330–44.
- 6. Vanier MT. Niemann-Pick diseases. Handb Clin Neurol 2013;113:1717–21.
- 7. Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol 2010;25:300–5.
Rehabilitasyon Niemann Pick Hastalığı Tip C Tanılı Hastalarda Tedavinin Önemli Bir Ayağıdır: Olgu Sunumu
Abstract
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.
References
- 1. Abela L, Plecko B, Palla A, Burda P, Nuoffer J-M, Ballhausen D, et al. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: A retrospective Swiss cohort study. Orphanet J Rare Dis 2014;9:176.
- 2. Burlina A. Niemann-Pick disease type C: Introduction and main clinical features. J Neurol 2014; 261 Suppl:S525-7.
- 3. Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: An expert-based clinical description. Orphanet J Rare Dis 2013;8:166.
- 4. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
- 5. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab 2012;106:330–44.
- 6. Vanier MT. Niemann-Pick diseases. Handb Clin Neurol 2013;113:1717–21.
- 7. Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol 2010;25:300–5.
Details
| Primary Language | English |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | CASE REPORTS |
| Authors | |
| Publication Date | March 26, 2019 |
| Submission Date | January 25, 2018 |
| Published in Issue | Year 2019 Volume: 13 Issue: 2 |
The publication language of Turkish Journal of Pediatric Disease is English.
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