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...

SUMMARY A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21 ;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp2l. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp2l points to a non-random association of this site with the DMD phenotype. A DMD locus at Xp2l could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp2l. DMD with a clinical course as severe as the one in affected boys has been reported in females with an XO sex chromosomal constitution in a large proportion of cells9-1" or with a structurally abnormal X chromosome.12More recently, four independent reports have described typical DMD in female carriers of X; autosome translocations.13'6 Although different Received for publication 18 February 1981 autosomes were involved, it seems that the breakpoints on the X chromosome affected the same band in the four cases, suggesting that a locus for DMD might be located at this site.16We report here an additional case of DMD in a female carrier of an apparently balanced translocation t(X;6)(p21 ;q21). The possible localisation of the DMD locus is discussed. Case reportThe proband (fig 1) with DMD is an I li-year old girl born to unrelated and healthy parents. The mother was 29 and the father 26 at the time of her birth. She is an isolated case in the family and has five normal maternal uncles. Her mother had a total of three children (two boys and the proband) from three different husbands. The patient is the second child and neither her older nor younger half-

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.

-We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.KEY WORDS: Schwartz-Jampel syndrome, myotonia, carbamazepine. Síndrome de Schwartz-Jampel: relato de cinco casosRESUMO -Descrevemos cinco pacientes com a síndrome de Schwartz-Jampel (SSJ) avaliados no Ambulatório de Doenças Neuromusculares da Divisão de Neurologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, de 1996 a 1999, com o objetivo de salientar o peculiar fenótipo dismórfico e as diferentes formas clínicas da SSJ. Dois meninos apresentavam SSJ-tipo 1A, mais branda e mais tardia, dois outros meninos apresentavam SSJ-tipo1B, de início mais precoce e dismorfismos mais limitantes, e uma menina apresentava SSJ-tipo 2, forma neonatal, com grave comprometimento, inclusive da sucção. Em todos, o diagnóstico foi baseado nos aspectos clínicos dismórficos, tanto faciais como esqueléticos, e no encontro de anormalidade eletromiográfica caracterizada como atividade elétrica contínua da fibra muscular. Todos receberam carbamazepina, em doses anticonvulsivantes de 20 a 30 mg/Kg, desde a realização da eletromiografia, que foi mantida nas consultas de seguimento, após períodos variando de 15 meses a 4 anos. Os quatro meninos, todos frequentando escola, apresentaram atenuação da síndrome miotônica; esta atenuação foi acentuada em três, notando-se nítida melhora da postura anormal, e moderada em um, que refere menor limitação nas atividades da vida diária. O quadro da menina com SSJ-tipo 2 não se modificou e a paciente manifestou retardo global do desenvolvimento, não tendo adquirido a marcha nem a linguagem por ocasião da última avaliação aos 20 meses de idade. A boa resposta dos sintomas à carbamazepina na SSJ-tipo 1 deve ser enfatizada, poi...