Aycan ÜNALP, Saniye GÜLLE, Demet CAN, Mustafa BAK

Konjenital miyotoni: Becker varyantı olan bir vaka sunumu

Konjenital miyotoni ağrısız miyotoni, jeneralize kas hipertrofisi ve ilerleyici olmayan seyir ile karakterize iskelet kasının nadir kalıtsal bir hastalığıdır. Bu makalede miyotoni ve “Herkül benzeri” görünüşü olan, elektromiyografik olarak miyotonik deşarjların saptandığı 4 yaşında bir erkek vaka sunuldu. Hastada meksiletin tedavisine dramatik yanıt alındı. İlaç tedavisiyle kontrol altına alınabilen ve aileye genetik danışma verilebilen bir hastalığa çocuk hekimlerinin dikkatinin çekilmesi amaçlandı

Anahtar Kelimeler:

Çocuk, okul öncesi, Elektromiyografi, Erkek, Meksiletin, Konjenital miyotoni, Hepatodejeneratif bozukluklar, sinir sistemi

Myotonia congenita: Case report of Becker’s variant

Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. We report a 4-year-old by with myotonia, “Herculean apperance” and electromyographic confirmation of myotonic discharges. The patient had a dramatic response to mexiletine. The aim of this report is to make the pediatricans aware of this entity which can be easily controlled with medication and also prevented by genetic counseling.

Keywords:

Child, Preschool, Electromyography, Male, Mexiletine, Myotonia Congenita, Heredodegenerative Disorders, Nervous System,

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