A Retrospective Evaluation of Pediatric Patients with Dystonia

Yıl 2019, Cilt: 45 Sayı: 2, 169 - 172, 01.08.2019

Pınar Uzun Uslu Sevda Çiğdem Erer Özbek Rabia Tütüncü Toker Mehmet Sait Okan

https://doi.org/10.32708/uutfd.455161

Öz

Dystonia is a repetitive and
involuntary movement and posture disorder caused by sustained or repetitive
muscle contractions. Dystonias are classified based on the age of onset,
anatomic distribution, and etiology. In dystonia, treatment is based on the
underlying etiology. In our study, we review the demographic characteristics,
classification and treatment approach of the children with dystonia. This study
included the patients aged below 18 years old who were admitted to our clinic between
2010 and 2016. Of these patients, those with a preliminary diagnosis of word
dystonia (e.g. unidentified dystonia, drug-related dystonia, orofacial
dystonia) were selected and their data were retrospectively analyzed. A total of 29 patients with dystonia were included.
The mean age was 10 years (range: 1 to 17 years). Of the patients, 13 were
females and 16 were males. The most common form of dystonia was secondary
dystonia and drug-related dystonia. The most common form of dystonia based on the
anatomic distribution pattern was focal dystonia. While L-Dopa was the
preferred initial treatment for primary dystonias, treatment was chosen based
on the etiology in secondary dystonia. It is significantly important to
accurately recognize and classify dystonia in children. Secondary dystonia is
more common than primary dystonia in children. A thorough anamnesis including
the medical history of the patient should be obtained, and additional presence
of tremor, chorea, and spasticity should be evaluated in the neurological
examination to identify secondary dystonias. In primary dystonias, L-Dopa
treatment should be the first choice due to the possibility of Segawa Syndrome
(Dopa-responsive dystonia).

Anahtar Kelimeler

Dystonia, Dopa responsive dystonia, Dystonic disorders, Segawa Syndrome

Distoni Tanısı İle Değerlendirilen Çocuk Hastaların Retrospektif Olarak İncelenmesi

Öz

Distoni devamlı ya da aralıklı kas kasılmalarının yol açtığı tekrarlayıcı, anormal istemsiz hareketler ve postür bozukluğudur. Distoniler başlangıç yaşına, yayılımına, etyolojisine göre sınıflandırılırlar. Distonide etyolojinin belirlenmesi tedaviye yaklaşımı değiştirmektedir. Çalışmamızda distonisi olan çocuk hastaların demografik özellikleri, sınıflandırması ve tedavi yaklaşımı gözden geçirilmek istenmiştir. Çalışmamıza 2010 ve 2016 yılları arasında başvuran 18 yaş altı hastalar dahil edildi. Bu hastalardan distoni kelimesini içeren ön tanılar (tanımlanmamış distoni, ilaca bağlı distoni, orofasiyal distoni gibi) girilmiş olan hastalar seçilerek dosyaları retrospektif olarak incelendi. Distoni tanısı olan 29 hasta tespit edildi. Yaş ortalamaları 10 olup (1 yaş-17 yaş arası) 13’ü kız, 16’sı erkek hastaydı. En sık saptanan sekon-der distoni ve özellikle ilaca bağlı distonilerdi. Distonilerinin yayılım paternine bakıldığında ise en sık fokal distoni gözlendi. Primer distoni-lerde ilk tedavi olarak L-Dopa seçilirken, sekonder distonilerde tedavinin etyolojiye göre belirlendiği görüldü. Çocuk hastalarda distoniyi doğru tanıyabilmek ve sınıflandırmasını yapmak oldukça önemlidir. Çocuklarda sekonder distoni primer distonilerden daha fazla görülmektedir. Sekonder distonileri belirleyebilmek için hastalardan medikal öykülerini mutlaka içeren iyi bir anamnez alınmalı, ayrıca nörolojik muayenede distoniye eşlik eden tremor, kore, spastisite varlığı değerlendirilmelidir. Primer distonilerde ise L-Dopa tedavisi, Segawa Send-romu (Dopa yanıtlı distoni) olasılığı nedeni ile ilk seçenek olmalıdır.

Anahtar Kelimeler

Distoni, Dopa yanıtlı distoni, distonik hastalıklar, Segawa Sendromu

Kaynakça

• 1. Klein C, Fahn S. Translation of Oppenheim’s 1911 paper on dystonia. Mov Disord. 2013; 28:851– 62. [PubMed: 23893442]
• 2. Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VSC, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013; 28:863–73. [PubMed: 23649720]
• 3. Jankovic J: Treatment of dystonia. Lancet Neurol 5:864–872, 2006
• 4. Kalia SK, Sankar T, Lozano AM: Deep brain stimulation for Parkinson’s disease and other movement disorders. Curr Opin Neurol 26(4):374-380, 2013
• 5. Kartha N: Dystonia. Clin Geriatr Med 22:899–914, 2006
• 6. Tiderington E, Goodman EM, Rosen AR, Hapner ER, Johns MM 3rd, Evatt ML, et al. How long does it take to diagnose cervical dystonia? J Neurol Sci. 2013; 335:72–4.
• 7. Macerollo A, Superbo M, Gigante AF, Livrea P, Defazio G. Diagnostic delay in adult-onset dystonia: Data from an Italian movement disorder center. J Clin Neurosci. 2015; 22:608–10. This article describes the length of time to receive a diagnosis for cervical dystonia, blepharospasm and hand dystonia. [PubMed: 25577433]
• 8. Jog M, Chouinard S, Hobson D, Grimes D, Chen R, Bhogal M, et al. Causes for treatment delays in dystonia and hemifacial spasm: a Canadian survey. Can J Neurol Sci. 2011; 38:704–11. [PubMed: 21856572]
• 9. Kyllerman M, Bager B, Bensch J, Bille B, Olow I, Voss H. Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences. Acta Paediatr. Scand. 1982;71:543–50.
• 10. Himmelmann K, Hagberg G, Wiklund LM, Eek MN, Uvebrant P. Dyskinetic cerebral palsy: a population-based study of children born between 1991 and 1998. Dev. Med. Child Neurol. 2007;49:246–51.
• 11. Himmelmann K, McManus V, Hagberg G, Uvebrant P, Krageloh-Mann I, Cans C, et al. Dyskinetic cerebral palsy in Europe: trends in prevalence and severity. Arch. Dis. Child. 2009;94:921–6.
• 12. Carbon M, Kingsley PB, Su S, Smith GS, Spetsieris P, Bressman S, et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann. Neurol. 2004;56:283–6.
• 13. Bonilha L, de Vries PM, Vincent DJ, Rorden C, Morgan PS, Hurd MW, et al. Structural white matter abnormalities in patients with idiopathic dystonia. Mov. Disord. 2007;22:1110–6.
• 14. Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746–52.
• 15. Bressman SB, Raymond D, Wendt K, Saunders-Pullman R, De Leon D, Fahn S, et al. Diagnostic criteria for dystonia in DYT1 families. Neurology. 2002;59:1780–2.
• 16. Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, et al. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov. Disord. 2006;21:1782–4.
• 17. Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature. Mov. Disord. 2003;18:706–11.
• 18. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in earlyonset dystonia: a genetic screening study. Lancet Neurol. 2009;8:441–6.
• 19. Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009;8:447–52.
• 20. Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. Molecular genetics of dopa-responsive dystonia. Biol. Chem. 1999;380:1355–64.
• 21. Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain. 2009;132:1753–63.
• 22. Roubertie A, Mariani L.L, Fernandez-Alvarez E, Doummar D, and Roze E, Treatment for dystonia in childhood, European Journal of Neurology 2012, 19: 1292–1299