Abstract
Serebrotendinoz
ksantomatozis (CTX) nadir görülen ve tedavi edilebilir bir lipid depo
hastalığıdır. Erişkin başlangıçlı ataksi nedenlerinden biridir. Klinik bulgular
infantil dönemde inatçı diyare, adolesan dönemde katarakt ve erişkin dönemde
tendon ksantomları ve ataksi, epilepsi, kişilik değişikliği gibi nörolojik
bozukluklar ile seyretmektedir. 6 yıl önce CTX tanısı alan, 37 yaşında kadın
hasta kliniğimize denge bozukluğu ve yürümede güçlük şikayetiyle başvurdu. Her
iki alt ekstremite kas kuvvetleri
4/5’ti ve bilateral aşil klonusu mevcuttu. Ambulasyon sırasında
bilateral düşük ayak yürüyüşü dikkati çekiyordu. Hasta denge rehabilitasyonu ve
yürüme eğitimi programına alındı. Her iki alt ekstremiteye kuvvetlendirme
egzersizleri uygulandı. Foot-up yürüyüş ortezi ile düşük ayak yürüyüşü kontrol
altına alındı. Baklofen tedavisi ile klonus giderildi. CTX hastaları, çoğunlukla nörolojik bozukluklar başladıktan sonra tanı alır ve tedavi ile hastalık progresyonu önlenmeye çalışılır. Bu hastalarda kişiye özel oluşturulmuş rehabilitasyon
programlarıyla semptomların yaşam kalitesine olan etkisi azaltılabilir. Biz de
bu olgumuzda CTX nedeniyle ataksi ve yürüme güçlüğü olan hastamızın
rehabilitasyon sürecini paylaşacağız.
References
- Referans1 Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Bradley's neurology in clinical practice. 7th ed. Elsevier, 2016;1538-1562.
- Referans2 Aminoff MJ, Josephson SA. Aminoff's neurology and general medicine, 5th ed. Elsevier, 2014;401-430.
- Referans3 Karakaplan M, Ergen E, Görmeli G, Korkmaz MF, Elmalı N. Bilateral achilles tendon xanthomas in a patient with cerebrotendinous xanthomatosis a case report. J Am Podiatr Med Assoc 2017;107:85-89. https://doi.org/10.7547/15-085
- Referans4 Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014;26:179. https://doi.org/10.1186/s13023-014-0179-4
- Referans5 Degos B et al. Natural history of cerebrotendinous xanthomatosis: A paediatric disease diagnosed in adulthood. Orphanet Journal of Rare Diseases 2016;11: 41. https://doi.org/10.1186/s13023-016-0419-x
- Referans6 Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. New England Journal of Medicine 1984;311:1649. https://www.nejm.org/doi/10.1056/NEJM198412273112601
- Referans7 Bonnot O et al. Cerebrotendinous xanthomatosis presenting with severe externalized disorder: Improvement after one year of treatment with chenodeoxycholic acid. CNS Spectrums 2010;15:231–236. https://doi.org/10.1002/ajmg.a.38314
- Referans8 Gill-Body KM, Popat RA, Parker SW, Krebs DE. Rehabilitation of balance in two patients with cerebellar dysfunction. Phys Ther 1997;77:534-52.
- Referans9 Federico A, Dotti MT, Lore F, Nuti R. Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci 1993;115:67–70. https://doi.org/10.1016/0022-510X(93)90068-A
- Referans10 Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism 1993;42:1497–1498. https://doi.org/10.1016/0026-0495(93)90174-M
Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare
and treatable lipid storage disease. It is one of the causes of adult onset
ataxia. Clinical findings include persistent infantil diarrhea, cataracts in
adolescent, tendon xanthomas and neurologic disorders such as ataxia, seizures,
personality changes in adulthood. 37 years old woman, diagnosed CTX 6 years
ago, complained of balance loss and walking difficulty. Bilateral lower
extremities were assessed with manual muscle testing and muscles strength
were 4/5. She had bilateral lower
extremity achilles clonus. Drop foot was observed when walking. We planned a
rehabilitation program for balance and walking ability. Bilateral lower
extremities strengthening program was performed. Foot-up ortheses were suggested for drop
foot. Lower extremity clonus was stopped with baclofen 30 mg/day oral
medication. Most of patients are diagnosed after the symptoms had started. It
is believed the progression was stopped by the therapy. Personalized
rehabilitation programs can improve functions and quality of life of this patients.
In this case we shared the rehabilitation process of our patient with CTX.
References
- Referans1 Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Bradley's neurology in clinical practice. 7th ed. Elsevier, 2016;1538-1562.
- Referans2 Aminoff MJ, Josephson SA. Aminoff's neurology and general medicine, 5th ed. Elsevier, 2014;401-430.
- Referans3 Karakaplan M, Ergen E, Görmeli G, Korkmaz MF, Elmalı N. Bilateral achilles tendon xanthomas in a patient with cerebrotendinous xanthomatosis a case report. J Am Podiatr Med Assoc 2017;107:85-89. https://doi.org/10.7547/15-085
- Referans4 Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014;26:179. https://doi.org/10.1186/s13023-014-0179-4
- Referans5 Degos B et al. Natural history of cerebrotendinous xanthomatosis: A paediatric disease diagnosed in adulthood. Orphanet Journal of Rare Diseases 2016;11: 41. https://doi.org/10.1186/s13023-016-0419-x
- Referans6 Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. New England Journal of Medicine 1984;311:1649. https://www.nejm.org/doi/10.1056/NEJM198412273112601
- Referans7 Bonnot O et al. Cerebrotendinous xanthomatosis presenting with severe externalized disorder: Improvement after one year of treatment with chenodeoxycholic acid. CNS Spectrums 2010;15:231–236. https://doi.org/10.1002/ajmg.a.38314
- Referans8 Gill-Body KM, Popat RA, Parker SW, Krebs DE. Rehabilitation of balance in two patients with cerebellar dysfunction. Phys Ther 1997;77:534-52.
- Referans9 Federico A, Dotti MT, Lore F, Nuti R. Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci 1993;115:67–70. https://doi.org/10.1016/0022-510X(93)90068-A
- Referans10 Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism 1993;42:1497–1498. https://doi.org/10.1016/0026-0495(93)90174-M
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Case Report |
| Authors | |
| Publication Date | January 21, 2020 |
| Submission Date | March 7, 2019 |
| Acceptance Date | November 1, 2019 |
| Published in Issue | Year 2020 Volume: 13 Issue: 1 |
