Pınar UZUN USLU, Sevda Çiğdem ERER ÖZBEK, Rabia TÜTÜNCÜ TOKER, Mehmet Sait OKAN

Distoni Tanısı İle Değerlendirilen Çocuk Hastaların Retrospektif Olarak İncelenmesi

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

A Retrospective Evaluation of Pediatric Patients with Dystonia

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).

Keywords:

Dystonia, Dopa responsive dystonia, Dystonic disorders, Segawa Syndrome,

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