[Familial hemiplegic migraine type 2: two paediatric case reports]

Rev Neurol. 2012 Feb 16;54(4):222-6.
[Article in Spanish]

Abstract

Introduction: 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.

Case reports: 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child, Preschool
  • Humans
  • Male
  • Migraine with Aura / complications
  • Migraine with Aura / diagnosis
  • Migraine with Aura / genetics
  • Migraine with Aura / physiopathology*
  • Mutation
  • Seizures / etiology
  • Seizures / physiopathology
  • Sodium-Potassium-Exchanging ATPase / genetics
  • Stupor / etiology
  • Stupor / physiopathology

Substances

  • ATP1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • Hemiplegic migraine, familial type 2