[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case].
BACKGROUND
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown.


METHODS
A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately.


CONCLUSIONS
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.
Gómez-Gosálvez
F
F
Servicio de Pediatria, Hospital Virgen de los Lirios, Alcoi, Alicante, España.
Smeyers
P
P
Escrivá
P
P
Clemente
F
F
Mallada
J
J
Mulas
F
F
Palao
F
F
Millet
E
E
D000086:Acetazolamide / Q000627:therapeutic use*; D000927:Anticonvulsants / Q000627:therapeutic use*; D002524:Cerebellar Ataxia / Q000145:classification / Q000150:complications* / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005207:Fasciculation / Q000150:complications* / Q000188:drug therapy*; D006801:Humans; D008297:Male; D010375:Pedigree; D010507:Periodicity
D000927:Anticonvulsants; D000086:Acetazolamide
Ataxia periódica familiar con mioquimia sensible a acetazolamida: presentación de una familia.