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Case Report

RMJ. 2017; 42(4): 601-603


Episodic ataxia type 1 in an Iraqi boy: Case report and review of the literature

Osama Shukir Muhammed Amin.


Abstract

We report on the case of a 10-year-old Iraqi Kurdish boy who developed recurrent short-lived attacks of severe instability of stance and gait, vertigo, nausea, and vomiting. Examination revealed peri-oral myokymia. Histories of fever, head trauma, seizures, migraine, or illicit drug abuse were not obtained. Needle electromyography revealed myokymic discharges. KCNA1 missense G1210A genetic mutation was found. The boy’s parents and grandparents did not harbour this mutation. The patient had sporadic episodic ataxia type 1 and acetazolamide was prescribed.

Key words: Episodic ataxia, KCNA1, myokymia, potassium channelopathy, missense mutation






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