A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

Abstract	We report the familial occurrence and apparent autosomal dominant inheritance of alternating hemiplegia of childhood. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures, and frequent episodes of flaccid alternating hemiplegia that had been presumed to represent postictal paralysis. The hemiplegia spells, which started in his first year, did not respond to multiple antiepileptics. Between attacks, there was choreoathetosis and dystonic posturing. Father, brother, paternal uncle, and paternal grandmother had similar histories of alternating hemiplegia. Investigations included negative CT, metabolic, and coagulation studies. EEG and SPECT 99mTc exametazime scanning failed to reveal any significant slowing or any major changes in cortical perfusion during hemiplegia as compared with nonhemiplegic periods. The karyotype revealed a balanced reciprocal translocation, 46,XY,t(3;9)(p26;q34) in the patient, in all the affected living relatives, and in one apparently unaffected sibling. The asymptomatic mother had a normal karyotype. Analysis of DNA markers was consistent with the karyotype results. Both affected siblings were treated with and responded to flunarizine therapy, with a greater than 70% decrease in attack frequency. Documented flunarizine trough serum concentrations were 28.9 ng/ml in the proband and 6.6 ng/ml in his brother.
Authors	M A Mikati, H Maguire, C F Barlow, L Ozelius, X O Breakefield, S M Klauck, B Korf, S L O'Tuama, F Dangond
Journal	Neurology (Neurology) Vol. 42 Issue 12 Pg. 2251-7 (Dec 1992) ISSN: 0028-3878 [Print] United States
PMID	1361034 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Flunarizine
Topics	Adult Child Child, Preschool Diagnosis, Differential Electroencephalography Epilepsy (diagnosis) Flunarizine (therapeutic use) Genes, Dominant Genetic Linkage Hemiplegia (diagnosis, drug therapy, genetics) Humans Karyotyping Male Pedigree Polymorphism, Restriction Fragment Length Syndrome Tomography, Emission-Computed, Single-Photon

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!