Leucoeneephalopathy with Vanishing White Matter as a cause of Progressive Myodonus Epilepsy

Anna Jansen, I. Crevaux, E Andermann, Odile Boespflug-Tanguy

Research output: Contribution to journalMeeting abstract (Journal)

Abstract

Background: The progressive myoclonus epilepsies (PMEs) are a group
of symptomatic generalized epilepsies with poor outcome. We report
EIF2B related leucodystrophy as a cause of PME.
Method: Medical and family histories were obtained. EEG, MRI
and MRS of the brain, EMG, skin-muscle-nerve biopsy, brain
biopsy, bone marrow biopsy, CSF studies, metabolic work-up and
molecular genetic studies for MERFF, DRPLA, SCA 1 and 3, and
vanishing white matter leucodystrophy (VWM) were performed on the
proband.
Results: The proband started having learning problems after a
head trauma at age 9. At age 22, he started to have myoclonic jerks
as well as generalized tonic-clorfic seizures. At age 38, he had a
cerebellar syndrome as well as bilateral pyranfidal signs. The
nlyoclonus (rest, posture and action) that had been very disabling
in his twenties had almost disappeared, but he still had some action
myoclonus of low amplitude, as well as negative myoclonic jerks of the
arms. Infrequent brief generalized seizures persisted. He was treated
with gabapentin, phenobarbital and lamotrigine. Severe pancreatitis
was attributed to valproic acid. MRI and brain biopsy showed
marked loss of white matter. EEGs showed lfigh amplitude delta
activity from both hemispheres, absent alpha rhythm and bilateral
independent intermittent sharp and slow wave activity from
both temporal lobes. He had a homozygous R113H mutation in the
EIF2B5 gene.
Contusion: Mutations in any of the 5 genes encoding subuttits of the
translation irfitiation factor EIF2B can cause VWM. Mutations in
these genes should be included in the differential diagnosis of PME.
Original languageEnglish
Pages (from-to)90-90
Number of pages1
JournalJournal of the Neurological Sciences
Volume238
Issue numbers1
Publication statusPublished - 2005
EventXVIIIth World Congress of Neurology - Sydney, Australia
Duration: 5 Nov 200511 Nov 2005

Keywords

  • Myoclonus epilepsies (PMEs)
  • EIF2B related leucodystrophy

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