We studied 70 children who had experienced at least two seizures before age 12 years, excluding febrile seizures, neonatal seizures, or seizures occurring during a metabolic, or infectious insult to the central nervous system (CNS) and who had been seizure free for at least 2 years. Twenty children (28.5%) experienced a recurrence, 75% during antiepileptic (AED) drug discontinuation or less than 6 months after discontinuation. Risk factors statistically related to seizure recurrence were greater than 10 seizures before seizure control, an abnormal EEG in the year before AED discontinuation, presence of focal neurologic signs and/or mental retardation, and presence of a mixed seizure pattern. Fourteen children (70%) with recurrence had two or more risk factors, whereas 36 (72%) without recurrence had no risk factor or only one. We conclude that a selected group of epileptic children who remain seizure-free for a period of at least 2 years can have AEDs discontinued based on presence or absence of risk factors.

ABSTRACT)*. THESIS. SÃO PAULO, 1998. JOSÉ LUIZ DIAS GHERPELLI **Two hundred and fifty-three children, aged < 15 years old, comprised the study group. The study was divided in 2 phases.Phase 1 included 193 children with migraine with and without aura (1.1 and 1.2) diagnosed according to the IHS criteria, with a mean age of 10,3 y., divided in 2 groups according to their age (< 10 or > 10 years). We studied the relationship between age and migraine type, headache characteristics and associated symptoms that are part of the IHS definition. Results showed a statistically significant higher frequency of migraine with aura in children > 10 years old (p = 0.0002) compared to those with < 10 years; nonparametric statistical analysis showed a significant relation between older age and increase in migraine with aura frequency (p = 0.0003). Pulsatile quality and unilateral pain location were also related to age, being more frequent in older children (p = 0.02 and p = 0.01, respectively).Phase 2 studied 176 children with headache (1.1, 1.7, 2.1, 2.2, 4), excluding those with migraine with aura. The objectives were to: 1. analyze which of the IHS definition items were responsible for the children's exclusion of the migraine (1.1) diagnosis; 2. study the concordance degree between the restrictive IHS criteria, Prensky and Vahlquist criteria, compared to an "extended" criteria used as a "gold standard", that included the non-classified children in the migraine group; 3. study the degree of sensitivity and specificity for each of the definition items of the IHS definition and; 4. analyze alternative definitions, based on the restrictive IHS definition, which could improve the sensitivity concerning the children of the 1.7 diagnostic group. The results showed that item B of the definition was the most frequent cause of exclusion in the 1.7 diagnostic group, compared to items C and D (all children fulfilled item A). Prensky criteria showed the highest sensitivity, compared to the Vahlquist and IHS, although all three criteria showed sensitivity over 70%. Headache characteristics and associated symptoms that showed sensitivity over 70%, in decreasing order of frequency, were: pain of moderate/severe intensity, pain duration between 2 to 48 hours, isolated photophobia, isolated phonophobia and aggravation with physical activity. Headache characteristics and associated symptoms that showed specificity over 70%, in decreasing order of frequency, were: nausea, vomiting, phonophobia and photophobia (all 3 with 100%), isolated photophobia, aggravation with physical activity and isolated phonophobia. Based on 3 alternative definitions, each of them modifying one item of the IHS definition (with the exception of item A), while maintaining the others unchanged, we compared the sensitivity and specificity of these alternative definitions with the "extended" criteria. We observed that the exclusion of item B led to a 10% increase of sensitivity compared to the restrictive IHS, without losing specificity.We concluded that item B of the IHS cr...

Among 25 patients diagnosed with Angelman syndrome, we detected 21 with deletion and 4 with paternal uniparental disomy (UPD), 2 isodisomies originating by postzygotic error, and 1 MII nondisjunction event. The diagnosis was obtained by molecular techniques, including methylation pattern analysis of exon 1 of SNRPN and microsatellite analysis of loci within and outside the 15q11-q13 region. Most manifestations present in deletion patients are those previously reported. Comparing the clinical data from our and published UPD patients with those with deletions we observed the following: the age of diagnosis is higher in UPD group (average 7 3/12 years), microcephaly is more frequent among deletion patients, UPD children start walking earlier (average age 2 9/12 years), whereas in deletion patients the average is 4 (1/2) years, epilepsy started later in UPD patients (average 5 10/12 years) than in deletion patients (average 1 11/12 years), weight above the 75th centile is reported mainly in UPD patients, complete absence of speech is more common in the deleted (88.9%) than in the UPD patients because half of the children are able to say few words. Thus, besides the abnormalities already described, the UPD patients have somewhat better verbal development, a weight above the 75th centile, and OFC in the upper normal range.

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Rett syndrome is a progressive encephalopathy restricted to the female sex. In the present paper a possible genetic cause for this syndrome is discussed, based on data from the literature as well as our own. Our results are in agreement with others regarding no increase in parental age, or in spontaneous abortions rate among the mothers of affected children and with a normal sex ratio among sibs. We have found no chromosome rearrangement detectable with the methods used and no correlation between fra(X) (p22) and the Rett syndrome. We have observed an alteration in the sequence of replication in one of the two types of late-replicating X-chromosome present in normal women, and suggest that this may signify that genes which are active in the late-replicating X-chromosome are inactivated (or vice-versa) in these patients. This fact could be related to the abnormal phenotype observed in Rett syndrome patients.

(fig 1) there was a gerodermic facies, short stature (height 130 cm, less than the 3rd centile), a small, brachycephalic head (head circumference 46 cm, less than the 2nd centile), haemangiomas on the forehead and neck, ptosis of the right eyelid, apparent hypotelorism (inner canthal distance 2-5 cm, outer canthal distance 8-5 cm), upward slanting eyebrows, a beaked nose with hypoplastic nares, high set ears, thin lips, long philtrum, malar hypoplasia, kyphoscoliosis, low set and widely spaced nipples, and pigmented naevi, mainly on the back and abdomen. There was a repaired left inguinal hernia, small penis with hypospadias, and enlarged scrotum. The hands were small and broad with bilateral shortening of the second phalanges of the fifth fingers, more evident on the left. The feet were small with bilateral partial syndactyly of the phalanges of the third and fourth toes. He had severe mental retardation, dysarthric speech, and urinary incontinence at night.Dermatoglyphics showed the following features.

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We report on a girl with apparent hypomelanosis of Ito (ITO); cytogenetic studies disclosed the karyotype 46,X,t(X;10)(p11;q11)mat. We present further evidence that at least one of the genetic forms of ITO is located at Xp11; reviewing the clinical characteristics of patients with incontinentia pigmenti type 1 (IP1) and ITO with X-autosome translocations, we suggest that IP1 and ITO represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xp11) give rise to ITO or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to Xp11 mutation, have functional or genetic mosaicisms.