A 7 year old boy presented with left-sided weakness
Teaching NeuroImages Neurology
Resident & Fellow Section
© 2017 American Academy of Neurology
Vignette
© 2017 American Academy of Neurology
• 7 year old boy
• History of prior episodes of hemiplegia
• Family history of hemiplegic migraine
• Presented with:
• Fevers
• Waxing and waning encephalopathy (lethargic, poorly interactive)
• Prolonged episode of left-sided weakness, persisting upon discharge beyond 5 week hospitalization
Kornbluh A, et al.
Neuroimaging
© 2017 American Academy of Neurology
Kornbluh A, et al.
Figure 1 Figure 2
Transient Cytotoxic Edema in a Child with a Novel ATP1A2 Mutation
© 2017 American Academy of Neurology
• Diagnostic testing revealed a suspected pathogenic mutation in ATP1A2 (c.2285G>C;
p.Gly762Ala)
• ATP1A2 is a gene associated with a broad phenotypic spectrum encompassing familial hemiplegic migraine type two (FHM2) and alternating hemiplegia of childhood.
• Previous case series illustrate that FMH2 attacks can be prolonged, debilitating, and associated with impaired consciousness and fever.1
• While cortical edema is previously described, transient diffusion restriction can be another radiologic feature of FHM2.2
