1050 Arq Neuropsiquiat r 2002;60(4)
ANGELM AN SYNDROM E: CHARACTERISTICS OF EPILEPSY, ELECTROENCEPHALOGRAPHYC ABNORM ALI-TIES AND CORRELATION TO GENETIC M ECHANISM S (ABSTRACT) * . THESIS. SÃO PAULO, 2001.
KETTE DUALIBI RAM OS VALENTE* *
Angelman syndrome is charact erized by severe men-tal retardation, speech disorder, stereotyped jerky move-ments, peculiar behavioral profile and typical facial t rait s. Eighty to 90% of these patients present epilepsy and sug-gestive electroencephalographic patterns w hich are used as diagnostic criteria and become important w hen the phenotype is not suggestive enough, as in infants. The syn-drome results from distinct genetic mechanisms [deletion (75-80%), paternal uniparental disomy (1-2%), imprinting cent er abnormalit y (2-3%) and UBE3A point mut at ion, found in ¼ of t he negat ive genet ic cases (20-25%)], w hich affect the maternal chromosome 15. The preser-vation of a larger genic contingent is probably related to a milder clinical phenotype as observed in patients w ith-out deletion making its recognition less evident .
The aim of this study w as to analyze the correlation bet w een dist inct genet ic mechanisms t hat det ermine Angelman syndrome and the severity of epilepsy and elec-troencephalographic abnormalities in a series of 26 con-secutive patients w ith clinical and/or genetic diagnosis. Pat ient s w ere classified according t o t heir genet ic studies in cases w ith deletion (n= 19), disomy (n= 3) and negat ive genet ic st udies (n= 4). Sixt y-eight EEGs w ere st udied f or t he charact erizat ion of t he EEG pat t erns, background act ivit y and t he occurrence of elect rogra-phic seizures. Epilepsy w as st udied t hrough clinical his-t ory, V-EEG and file revision and occurred in 84.6% (22/ 26) of t hese pat ient s. Suggest ive EEG pat t erns w ere found in 96.1% (25/26). Prevalence of epilepsy w as
sig-nif icant ly higher in pat ient s w it h delet ion. Param et ers indicat ing severit y of epilepsy such as earlier onset age, higher occurrence of daily, disabling or m ult iple seizu-res, st at us epilept icus and febrile seizures present ed a higher t endency of occurrence in pat ient s w it h dele-t ion. Padele-t iendele-t s w idele-t h disomy did nodele-t presendele-t epilepsy and negat ive cases w ere less severe.
Suggest ive elect roencephalographic pat t erns w ere observed in t he t hree groups. Delt a pat t ern w as t he m ost frequent follow ed by post erior discharges. Thet a pattern w as observed only in patients w ith deletion. Pro-longed, cont inuous or quasicont inuous burst s, as w ell as elect rographic seizures and unspecific int erict al epi-lept iform discharges, w ere predom inant ly observed in pat ient s w it h delet ion. Normal age-relat ed background act ivit y w as m ore f requent in pat ient s w it hout chro-m osochro-m ic delet ion.
We concluded t hat , alt hough epilepsy has been observed in non-delet ion pat ient s, epilepsy w as m ore severe in pat ient s w it h delet ion. This is probably due t o a major involvement of genes, w hich decodify GABA recept ors t hrough t his mechanism. In spit e of t he pres-ence of epilepsy or of a less suggest ive clinical pheno-t ype and regardless pheno-t he genepheno-t ic m echanism involved, EEG could be used as a diagnost ic crit erion in pat ient s in all groups.
KEY W ORDS: Angelm an syndrom e, EEG, epilepsy, genet ic m echanism , delet ion, uniparent al disom y.
TEACHING INFANTILE NEUROLOGY IN BRAZIL: CURRENT ASPECTS, CHALLENGES AND PERSPECTIVES (ABSTRACT)* . THESES. CAM PINAS, 2001.
CARM EN SILVIA SANCHES * *
* Síndrome de Angelman: caract eríst icas da epilepsia, das anormalidades elet rencefalográficas e correlação com os mecanismo genét i-cos. Tese de Dout orado, Universidade de São Paulo (Área Neurologia). Orient adora: M aria Joaquina M arques-Dias.
* * Adrdress: Rua Jesuíno Arruda 901 / 51, 04532-082 São Paulo SP, Brasil. FAX: 11 3079 5493. E-mails: ket t evalent e@msn.com / mkv@mat rix.com.br
This st udy int ends t o ident ify how m any and w hich are t he format ion and t raining cent ers in Infant ile Neu-rology in our country and its particularities. Besides, it t ries t o f ind out w het her or not t here are dif f erences bet w een t he services w hich are accredit at ed by t he Nat ional Commission of M edical Residence and t he ser-vices t hat are not accredit at ed by t his Com m ission.
