[Familial hemiplegic migraine type 2: two paediatric case reports].
BACKGROUND
Familial hemiplegic migraine is a rare subtype of migraine with aura that includes, as it progresses, a motor defect together with visual or sensory symptoms or speech disorders. It may be associated to symptoms such as basilar migraine, coma and convulsions. Familial hemiplegic migraine type 2 accounts for 25% of them.


METHODS
Two patients, who started at the age of 4 years with episodes of motor deficits or seizures, together with an important sensory disorder that lasted for hours, which were sometimes triggered by banal traumatic injuries. A detailed description of the clinical and developmental features, as well as the studies conducted, is provided. The genetic study revealed mutations in gene ATP1A2: in one case this consisted in a nucleotide substitution in exon 18 (G2501A) that had already been reported, while in the other case there was a previously unknown change (c.381+3 G>T) in intron 4.


CONCLUSIONS
We recommend that this condition should be suspected when a disagreement between the duration or the severity of the seizures and the duration and characteristics of the ensuing stupor is detected.
Departamento de Pediatria, Hospital Materno-Infantil de las Palmas de Gran Canarias, 35016 Las Palmas de Gran Canaria, Espana.
Laura
L
Toledo-Bravo de Laguna
Alfredo
A
Santana-Rodríguez
José C
JC
Cabrera-López
Alexandre
A
Santana-Artiles
Irma
I
Sebastián-García
D000293:Adolescent; D002675:Child, Preschool; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D012640:Seizures / Q000209:etiology / Q000503:physiopathology; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics; D053608:Stupor / Q000209:etiology / Q000503:physiopathology
C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase