[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.
Revista De Neurologia
|February 9, 2012
Summary
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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