[Familial hemiplegic migraine type 2: two paediatric case reports]
Laura Toledo-Bravo de Laguna1, Alfredo Santana-Rodríguez, José C Cabrera-López
1Departamento de Pediatria, Hospital Materno-Infantil de las Palmas de Gran Canarias, 35016 Las Palmas de Gran Canaria, Espana.
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.
Insights
Familial hemiplegic migraine type 2 (FHM2) is a rare neurological disorder. Early identification is key, especially when seizure duration and post-seizure stupor seem disproportionate.
Area of Science:
- Neurology
- Genetics
Background:
- Familial hemiplegic migraine (FHM) is a rare migraine subtype with aura, motor deficits, and neurological symptoms.
- Familial hemiplegic migraine type 2 (FHM2) constitutes 25% of FHM cases, linked to ATP1A2 gene mutations.
Observation:
- Two pediatric patients presented with early-onset motor deficits, seizures, and sensory disorders, sometimes triggered by minor injuries.
- Clinical and developmental features were documented, alongside genetic analysis.
Findings:
- Genetic studies identified ATP1A2 gene mutations in both patients.
- One patient had a known G2501A nucleotide substitution, while the other had a novel intronic mutation (c.381+3 G>T).
Implications:
- Suspect FHM2 in cases with a mismatch between seizure severity/duration and subsequent stupor characteristics.
- Highlights the importance of genetic testing for ATP1A2 mutations in suspected FHM2 cases.
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