November 15, 2016 E-Pearl of the Week: Moyamoya disease and Moymoya syndrome
November 15, 2016
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood is a rare genetic disorder with an estimated prevalence of 1 in 1 million characterized by recurrent episodes of hemiplegia that begins before 18 months of age. Hemiplegic attacks can shift from one side of the body to the other with a frequency ranging from a few times per day to a few times per month, including duration of minutes to days. Other paroxysmal symptoms include dystonia, monocular nystagmus, and seizures with attacks usually induced by emotional stress, fatigue, cold, and infection. Treatment strategies include avoidance of known triggers, prophylaxis with Flunarizine, a calcium channel blocker, and benzodiazepines.
- Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol 2012; 11: 764-773.
- Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol 2015; 52: 56-64.
Submitted by Steve O'Donnell from the Department of Neurology at the University of Utah in Salt Lake City, UT. Dr. O'Donnell is a member of the Resident and Fellow Section of Neurology.
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