Lidia Gabis, Liat Tusk Helerman - Weinberg
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days. Onset is typically in childhood or early adolescence. Frequency of attacks can range from 1-2 times a year to 3-4 times a week.
EA2 demonstrates variable expressivity both between and within families
The aim of treatment is to control or reduce the frequency and severity of attacks
We report a 8 -year-old boy that presented at the age of with Episodic Ataxia , global developmental delay and coordination difficulties.
He is the second born of unrelated healthy parents. Pregnancy and delivery were normal.
Upon examination he showed intermittent squint, proximal weakness, mild atactic gait with no dysmetria .
Extensive workup – normal. Imaging was normal.
The patient was started on Acetazolamide given orally titrated up to 250 mg once a day.
The treatment improved the frequency, intensity and duration of the attacks.
Subsequent gene sequencing revealed heterozigous mutation exon 41 of CACNA1A
We describe a patient with the classic manifestations of Episodic Ataxia. The patient, a heterozygote of CACNA1A gene, autosomal dominant with variable expressivity.
The identification of the mutations should allow prenatal testing in future children in the family.
It is important to diagnose this condition early as there is a good treatment options of control or decrease the frequency and severity of attacks.