Abstracts

Wolf[ndash]Hirschhorn and Pitt-Roger-Danks syndromes are uncommon (1:50.000) genetic disorders caused by a deletion of the short arm of chromosome 4 (4p-). Sgro et al. (1995) described an electroclinical profile for 4p- which is similar to that observed in Angelman syndrome (AS). We analyzed five patients with 4p- and report electroclinical findings. We also compared these findings with those previously reported in AS.
We prospectively studied EEG and epilepsy features of patients with a confirmed 4p- syndrome, referred for further evaluation and epilepsy management. Prolonged recordings were performed in an 18-channel EEG. Epilepsy characterization was obtained with a pre-standard questionnaire. Seizure semiology was analyzed by two child neurologists at different moments. In case of doubt, V-EEG was done. Seizures were classified according to ILAE guidelines. If history was unclear, especially concerning the first seizure, a file revision was done. Previous EEGs were also revised.
Our patients[rsquo] ages ranged from 1y5mo to10y11mo (mean 6.2y; median 6.5y) at the time of the first evaluation. Seizure onset occurred at the mean age of 0.8 years, with myoclonic and partial motor seizures triggered by fever in two patients. All children developed generalized epilepsy and the main seizure types were generalized myoclonic, atypical absences and sporadic GTC seizures. Epilepsy aggravated by fever and atypical absence status occurred in two patients. Seizure control was obtained in four patients at the mean age of 5.8y (range from 4y.9 to 6y). Analysis of the EEGs demonstrated that one patient had serial normal EEGs at the ages of 2y and 5y11mo; 2 patients (1y5mo and 8y) had EEG patterns resembling AS, both presenting sharp theta activity over posterior regions (1.5y; 3y and 4y), associated in one, with high amplitude delta waves with superimposed low amplitude sharp waves (delta pattern) (3y to 6y). One of the patients who had the delta pattern and posterior discharges presented low amplitude spikes over parasagital regions, at the age of 8y. Other abnormalities observed were: parasagital discharges (8y and 10y11mo) and temporal discharges (11y).
4p- syndrome presents a stereotyped epilepsy profile with an age-related generalized epilepsy and EEG patterns similar to AS. However, the frequency in which the EEG patterns occur in this population may not be as high as that observed in AS (80-90%). Although we studied patients at different ages and retrospectively analyzed their EEGs, we believe that age is an important factor in the analysis of 4p- patients, since EEG patterns may have an age-related presentation.