Neurology Specific Literature Search   
 
[home][thesaurus]
    
Click Here to return To Results

 

A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
See this aricle in Pubmed

Article 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 99m Tc 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 reciptocal 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.
 
Related Tags
(click to filter results - removes previous filter)

alternating hemiplegia
alternating hemiplegia of childhood
autonomic dysfunction
choreoathetosis
developmental retardation
dystonia
familial
flunarizine
genetic neurologic disorders
hemiplegia
intellectual deficit
karyotyping
nystagmus
seizure
transient neurologic deficit
treatment of neurologic disorder

Click Here to return To Results