Abstracts

RATIONALE: The correlation between the severity of the EEG findings and copper levels in Menkes disease has not been well described. This retrospective study was undertaken to better define such a correlation. At the end of this activity the participants should be able to discuss the correlation between copper levels and EEG abnormalities in patients with Menkes disease.
METHODS: The records of children treated with Menkes disease at St. Christopher[ssquote]s Hospital for children (Philadelphia, PA) from 1973 to present were reviewed. Nineteen patients with Menkes disease were identified during the period of the study. Sixteen patients had copper levels available and six of these patients had both copper levels and EEG data available at the time of analysis. Patient demographics, EEG data, copper levels and mortality were recorded. EEG data were stratified using a scoring system. Abnormalities including 1. background slowing, 2. focal slowing/asymmetry, 3. disorganized background, 4. generalized epileptiform, 5. focal epileptiform, 6. multifocal epileptiform, 7. very low amplitude, 8. very high amplitude or 9. the presence of a seizure during the EEG were given one point each. Points were added together as a measure of severity of the EEG. Maximum score was seven as two of the abnormalities were exclusive with other characteristics. The EEG severity scores and the copper levels were plotted against age, in each patient.
RESULTS: The nineteen children ranged in age from birth to 22 months at the time of the diagnosis (average 8.5 months). All but one, had seizure disorder and severe developmental delay. Of the total sample ten children are dead at the present time with an average age of death of 7.7 years (range 3 months to 17 years).
A total of 400 copper levels were available for the six patients of the analysis. An average of 10 EEG data per patient were available for this six patients. Most of the patients showed a negative correlation between the copper levels and the severity of the EEG. The lower the copper levels, the more abnormalities noted on the EEG. The effect was shown both individually and when comparing between patients.
CONCLUSIONS: Our study shows that it is possible to correlate EEG data and copper levels in patients with Menkes disease. We found a negative correlation with lower copper levels having more abnormalities on the EEG. This study suggests that keeping copper levels toward normal limits in patients with Menkes disease may help controlling EEG abnormalities in this group of patients, though not necessarily modify the course of the disease.