Seren Aydın

Baş ağrısı, çocukluk çağında en sık görülen rahatsızlıklardan biridir. Çocuklarda, baş ağrısının değerlendirilmesinde ilk adım, ayrıntılı bir öykü ve klinik muayenedir. Baş ağrısı şikayeti olan bir çocukta baş ağrısının birincil mi yoksa ikincil mi olduğunun belirlenmesi gerekir. Birincil baş ağrısı olan hastalar için nörogörüntüleme önerilmemektedir. Ancak, altta yatan nedeni dışlamak için kırmızı bayrakların varlığında nörogörüntüleme zorunlu hale gelir. Çocuklardaki nörogörüntüleme çalışmaları, radyasyon maruziyeti ve sedasyonun riskleri göz önüne alınarak tanı ve tedaviye olası katkıları ile değerlendirilmesi önemlidir.

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.