Document Detail

Is it juvenile myoclonic epilepsy?
MedLine Citation:
PMID:  10937168     Owner:  NLM     Status:  MEDLINE    
A 21-year old man with marked developmental delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of consciousness, that had begun 2 years before, and for a recent generalized tonic-clonic seizure preceded by a cluster of MJ. Physical examination revealed a small stature, bilateral pyramidal signs, severe mental retardation, and retinis pigmentosa. Etiological factors for this encephalopathy were not found (muscle and skin biopsies, karyotype and extensive blood chemistry). Waking interictal EEG showed a normal background activity and generalized poly-spike-and wave (PSW) discharges. Photic stimulation disclosed a marked photoparoxysmal response, sometimes associated with myoclonic jerks. Three spontaneous jerks accompanied by a burst of generalized PSW were recorded on awakening from a nap. The MRI disclosed wide ventricles, a thin corpus callosum, brainstem atrophy and a so-called "redundant gyration"; these changes were evocative of acquired perinatal damage. Juvenile myoclonic epilepsy (JME) was diagnosed and valproate was started resulting in complete control of seizures. During a 5-year follow-up, the patient has remained seizure-free and the EEG consistently normal. In our opinion, JME can be diagnosed in very uncommon settings, including patients with significant brain damage, as long as all the other criteria for the diagnosis are present.
P Gelisse; P Genton; C Raybaud; P Thomas; F Bartolomei; C Dravet
Related Documents :
1719918 - Fulminant hepatitis in children: report of 12 cases.
15723288 - Is multicenter collaborative research in clinical genetics dead and, if so, what killed...
1641138 - Epidemiology of human immunodeficiency virus encephalopathy in the united states.
22156968 - Predictors of weight loss after haart initiation among hiv-infected adults in tanzania.
8836888 - In situ detection of hepatitis c virus--a critical appraisal.
18330948 - Prevalence of anti-hav antibodies in multitransfused patients with beta-thalassemia.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Epileptic disorders : international epilepsy journal with videotape     Volume:  2     ISSN:  1294-9361     ISO Abbreviation:  Epileptic Disord     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-08-29     Completed Date:  2000-08-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100891853     Medline TA:  Epileptic Disord     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  27-32     Citation Subset:  IM    
Centre Saint-Paul, Marseille, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Brain / pathology
Cerebral Ventricles / pathology
Corpus Callosum / pathology
Epilepsies, Myoclonic / diagnosis*,  pathology
Gyrate Atrophy / pathology
Magnetic Resonance Imaging

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  "Dual pathology" and the significance of surgical outcome in "Dostoewsky's epilepsy".
Next Document:  Hypothalamic hamartoma, precocious puberty and gelastic seizures: a special model of "epileptic" dev...