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Electroencephalographic findings in patients with mucolipidosis type IV.
MedLine Citation:
PMID:  9680151     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe the electroencephalographic findings in mucolipidosis type IV (ML IV), a lysosomal storage disease of unknown etiology characterized clinically by corneal clouding, retinal degeneration and severe psychomotor retardation. Most patients are of Ashkenazi-Jewish ancestry. The EEG findings in this syndrome have not been characterized. METHODS: We analyzed the EEGs of 10 patients with the diagnosis of ML IV, aged between of 2.5 and 21 years. All patients had 21 channel recordings in the international 10/20 system without sedation. RESULTS: Six of the 10 patients had slowing of the background in the theta frequency range, and 4 had excessive beta frequency activity without the administration of medications. Two patients were able to reach stage 2 sleep, and were noted to have both synchronous and asynchronous spindles and vertex waves. Of the 10 patients, 6 had epileptiform spikes, all of which were noted frequently. The location of the spikes varied, from the frontal and temporal regions to the central regions, although location was consistent in each patient. Only one patient with epileptiform spikes had a history of clinical seizures. None of the other patients had a history of seizures. CONCLUSIONS: These findings imply that epileptiform discharges are common in patients with ML IV, but are infrequently associated with clinical seizures.
H Siegel; K Frei; J Greenfield; R Schiffmann; S Sato
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Electroencephalography and clinical neurophysiology     Volume:  106     ISSN:  0013-4694     ISO Abbreviation:  Electroencephalogr Clin Neurophysiol     Publication Date:  1998 May 
Date Detail:
Created Date:  1998-08-13     Completed Date:  1998-08-13     Revised Date:  2008-09-09    
Medline Journal Info:
Nlm Unique ID:  0375035     Medline TA:  Electroencephalogr Clin Neurophysiol     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  400-3     Citation Subset:  IM    
EEG Section and Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA.
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MeSH Terms
Action Potentials / physiology
Child, Preschool
Epilepsy / physiopathology
Mucolipidoses / classification,  physiopathology*
Sleep Stages / physiology

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