Realizamos estudo aberto, de adição do topiramato (TPM) como medicação adjuvante no tratamento da síndrome de Lennox-Gastaut (SLG), com a finalidade de verificar a eficácia e a segurança de avaliar a qualidade de vida (QV) no uso crônico do TPM. Estudamos 19 pacientes (11 do sexo masculino; idade entre 4 e 14 anos) com epilepsia de difícil controle e em uso de 2 a 3 drogas anti-epilépticas. Os pacientes foram seguidos por 36 meses. Um questionário foi aplicado aos pais para se avaliar QV. Sete crianças completaram o estudo. A frequência de crises foi reduzida em mais de 75% em 4 e em menos de 50% em 3 delas. Dois pacientes ficaram sem crises. A maioria dos efeitos colaterais relacionou-se ao sistema nervoso central, sendo sonolência e anorexia os mais frequentes e transitórios. Um paciente foi excluído do estudo por apresentar pó na urina. Nenhuma criança necessitou de hospitalização. Aos 36 meses, os pacientes encontravam-se mais alertas (2/7), e houve melhora na interação com o meio ambiente (5/7), na habilidade em realizar tarefas diárias (5/7) e na performance verbal (6/7). Concluímos que o TPM pode ser útil como terapia adjuvante na SLG. A eficácia manteve-se no tratamento a longo prazo em mais de 40% dos pacientes, a segurança foi confirmada e a QV melhorou com o uso do TPM.

We conducted an open, add-on study with topiramate (TPM) as adjunctive therapy in Lennox-Gastaut syndrome (LGS), to assess the long-term efficacy and safety and to evaluate quality of life (QL) measurements in the chronic use of TPM. We studied 19 patients (11 male; age ranging from 4 to 14 years) with uncontrolled seizures receiving 2-3 anti-epileptic drugs. Patients were followed up to 36 months of treatment. A questionnaire was used to query parents about QL. Seven patients completed the study at 36 months and seizure frequency was reduced > 75% in 4, and < 50% in 3 patients. Two children became seizure free for more than 24 months. Most side effects were CNS related, with the most frequent being somnolence and anorexia. These were generally transient. One patient dropped-out due to powder in the urine. None of the patients required hospitalization. At 36 months, patients' alertness (2/7), interaction with environment (5/7), ability to perform daily activities (5/7), and verbal performance (6/7) improved on TPM. We conclude that TPM may be useful as adjunctive therapy in the treatment of LGS. The efficacy of TPM was maintained in long-term treatment in more than 40% of patients, long term safety was confirmed and QL improved on TPM.

Dezessete crianças com espícula-onda contínua durante o sono foram estudadas retrospectivamente. Cinco apresentavam distúrbio da fala após desenvolvimento normal da linguagem e crises epilépticas (síndrome de Landau e Kleffner - grupo 1). Doze crianças tinham atraso do desenvolvimento neuropsicomotor e/ou deficiência mental (grupo 2). Crises epilépticas estavam presentes em 11 pacientes deste grupo, tetraparesia em 5, hemiparesia em 2, microcefalia em 2, distúrbios de comportamento em 4 casos. O eletrencefalograma mostrou em todos os casos espícula-onda contínua durante o sono. Pacientes do grupo 1 apresentavam atividade epileptiforme difusa com acentuação das descargas nas regiões temporais em 4 de 5 casos; e os do grupo 2, descargas difusas, incluindo atividade multifocal (5/ 12), por vezes com predomínio anterior (7/12). Concluímos que espícula-onda contínua durante o sono é um padrão eletrográfico inespecífico de certos tipos de epilepsia na infância com diferentes manifestações clínicas, que mostra no entanto certa diferenciação topográfica, de acordo com os prováveis sítios lesionais.

Seventeen children were retrospectively evaluated. They exhibited continuous spike-wave activity during slow wave sleep (CSWS). Five of these had only speech problems and seizures (Landau-Kleffner syndrome) (group 1). The other cases had developmental milestones acquisition delay and/or mental retardation (group 2). Epileptic seizures were present in 11 of these, tetraparesis was observed in 5, hemiparesis in 2, microcephaly in 2 and behavior disturbances in 4 cases. The electroencephalogram showed in all cases diffuse CSWS. Group 1 showed diffuse activity, at times accentuated in the centrotemporal region (4/5). Group 2 had widespread discharges, including multifocal activity (5/12), sometimes with anterior predominance (7/12). We concluded that CSWS is a non specific electrographic pattern observed in some types of epilepsy in childhood that have different clinical presentation. It has however some topographic differentiation, depending upon the lesional sites.

Os autores relatam dois casos de amiotrofia espinal infantil, confirmados por exame eletroneuromiográfico, que evoluiram de forma atípica. No primeiro, criança do sexo feminino de 10 anos de idade, a sintomatologia motora foi de predomínio distal. No outro, paciente do sexo feminino de 7 anos de idade, o quadro foi rapidamente progressivo em 4 meses, ocorrendo óbito após 10 meses. São apresentadas as classificações mais aceitas da doença, discutindo-se a caracterização da forma clínica apresentada por nossos pacientes.

The authors report two cases of infantile spinal muscular atrophy with atypical evolution diagnosed by means of EMG findings. The first one is a 10 years-old female child who has showed a distal predominium of the muscle weakness and atrophy. The second patient, a 7 year-old female child, has manifested within a period of 4 months a rapidly progressive tetraparesis that culminated in death after 10 months. The authors present the most accepted classifications of the illness land discuss the clinical manifestations of the two patients aiming to characterize the clinical forms, in accordance to the literature.

Crianças com síndrome de Sotos apresentam aceleração do crescimento, macrocrania, padrões acromagalóides e dificuldades iniciais no desenvolvimento neuropsicomotor. A delineação da síndrome e o diagnóstico diferencial estão baseados na avaliação das características clínicas e no histórico evolutivo desses pacientes. Sete pacientes com síndrome de Sotos são descritos, bem como revistas as características clínicas presentes em 198 pacientes da literatura. As dificuldades motoras presentes durante a primeira infância nos pacientes com síndrome de Sotos são responsáveis pelo mau desempenho destas crianças nos testes de QI. A estimulação especializada deve ser encorajada para ajustar os afetados a superarem suas dificuldades iniciais.

Children with Sotos syndrome have growth acceleration, macrocephaly, acromegaloid features and delay in neuropsychomotor development during infancy. Syndrome delineation and differential diagnosis are based on evaluation of phenotypic characteristics and evolutive history of the patients. Seven patients with this syndrome are reported, and the relative occurrence of the phenotypic characteristics present in 198 reported cases are reviewed. Motor difficulties present in those patients during early infancy are responsible for the poor performance on IQ tests. Oriented stimulation should be encouraged in order to help the affected children to overcome their initial difficulties and to achieve normal scholarity and life performance.

Apresenta-se análise dos avanços concernentes aos erros inatos do metabolismo (EIM) sob 4 aspectos: 1) da compreensão geral dos EIM, principalmente relacionados aos mecanismos, à localização gênica e à manifestação dos genes pela heterogenidade genética; 2) aos aspectos clínicos, apresentando de forma resumida a descrição ou de novas variantes dos EIM já conhecidos ou de novos EIM; 3) ao diagnóstico, em que se apresentam os meios diagnósticos de laboratório atualmente disponíveis em nosso meio: seja a dosagem de marcadores genéticos, sejam os testes de triagem populacionais a nível de berçário, sejam detecções de heterozigotos, assim como o diagnóstico pré-natal; 4) aos aspectos terapêuticos, em que são apresentadas as variadas terapêuticas substitutivas, ou dietas especiais, ou ainda as técnicas de plasmaferese e leucoferese, apresentando, quanto a esta última, alguns resultados observados em 4 mucopolissacaridoses.

Four aspeets of advances in inborn errors of metabolism (IEM) are analysed: 1) concerning the general comprehension of the pathogenesis, genic localization and genetic heterogeneity; 2) clinicai aspeets, with description of new variants of known IEM or new IEM; 3) laboratory diagnostic tests presently used in our country: dosage of some genetic markers (arylsulfatases, hexosaminidases, beta-glicosidase; beta-galactosidase and sphingomyelinase), newborn populational screening (for hyperphenylalaninemia, and hypothyroidism), heterozygote detection (for Tay-Sachs disease) and also some prenatal diagnosis; 4) therapeutic aspects presenting substitutive treatment, special diets, plasma pheresis and leucopheresis. The first results of 4 cases of mucopolysacharidosis treated with the last technic are presented.

Em 1966 Norman e Tingey descreveram síndrome de micrencefalia, calcificações estrio-cerebelares e leucodistrofia, síndrome esta que, em 1968, acrescida de nanismo, Lyon e col. tornaram a relatar. Esses autores não descreveram alterações do LCR. Em 1984, Aicardi e Goutièrres descreveram 8 crianças pertencentes a 5 famílias, com a síndrome antes referida, porém com a diferença de as calcificações serem dos gânglios de base, além de haver pleocitose do LCR crônica linfomononuclear. Todos os pacientes tiveram evolução progressiva e caráter familiar, com provável herança autossômica recessiva. É propósito deste registro relatar caso semelhante, num paciente branco do sexo masculino, com 6 meses e meio de idade e que apresentou quadro semelhante, diagnosticado aos 3 meses de idade: nanismo e microcefalia limiares, calcificações dos gânglios de base e leucodistrofia à TC. Seis exames de LCR sucessivos mostraram pleocitose de predomínio linfomononuclear. Fez-se estudo das subpopulações de linfócitos T-ativos e T-ávidos, o qual sugeriu sinalização local no sistema do LCR. São discutidos o diagnóstico diferencial e a estranha combinação de provável etiologia genética associada a mecanismo imunitário, revelando processo inflamatório local. Processaram-se pesquisas no intuito de afastar etiologia a vírus, as quais se revelaram negativas, o que não afasta esta hipótese.

Norman & Tingey (1966) reported a new syndrome of micrencephaly, strio-cerebellar calcifications and leucodystrophy and in 1968, Lyon & col. reported the same syndrome plus dwarfism. These authors did not describe cerebrospinal fluid (CSF) alterations. In 1984, Aicardi & Goutièrres described 8 children from 5 different families with a syndrome like above referred to but with chronic CSF lymphocytosis; all patients had a progressive evolution, with familial character, with probable autosomic recessive heritage. It is the purpose of this report to relate a case similar to Aicardi & Goutièrres' cases in a male Caucasian patient of jewish ashkenazim origin with 6 and a half month of age, but with a study of CSF lymphocytes T and B. Diminished T-subpopulations of active and avid-T were found suggesting local signalization of antibodies in the central nervous system. The differential diagnosis and that strange combination of a probable genetic etiology and an immunitary process revealing a local inflammatory process are discussed.

São apresentados dois casos (irmãs) de coréia familiar benigna. O estudo do heredograma mostra padrão compatível a herança autossômica dominante com penetrância incompleta. Discute-se o diagnóstico diferencial dessa doença e faz-se breve revisão da literatura.

Two cases (siblings) of benign familial chorea are reported. The family's pedrigree shows an autosomic dominant form of inheritance with incomplete penetrance. The differential diagnosis is discussed as well a brief literature revision is made.

É relatado um caso de síndrome de Menkes, que acreditamos ser o primeiro descrito no Brasil. O paciente, menino de 15 meses, apresentava, desde o quinto mês de vida, pili torti, grave involução do desenvolvimento neuropsicomotor e síndrome convulsiva. Os exames complementares evidenciaram ceruloplasmina e cobre séricos baixos, alterações arteriais e intensa atrofia cerebral difusa. O exame necroscópico confirmou este último aspecto, observando-se despopulação neuronal nas camadas mediocorticais do cérebro, no tálamo e sobretudo no cerebelo, sede de lesões intensas e particulares em nível cortical. Acredita-se que a síndrome de Menkes, de herança recessiva ligada ao sexo, seja devida a um erro inato do metabolismo do cobre, primário ou secundário a alterações variáveis das proteínas que permitem o transporte de cobre aos diferentes tecidos. Os autores revisam os principais aspectos etiopatogênicos referidos na literatura.

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.

São relatados 40 casos de abscessos intracranianos em pacientes abaixo de 15 anos de idade, observados de 1960 a 1982. Houve decréscimo progressivo no número de internações por esta patologia. O quadro clínico típico foi subagudo e caracterizou-se por hipertensão intracraniana, febre, alterações do nível de consciência, convulsões e sinais de localização, em ordem decrescente de freqüência. Otites e sinusites predominavam como focos primários e as localizações mais comuns foram frontais e parietais. Eletrencefalograma e líquido cefalorraquidiano revelaram-se úteis. Atualmente, a tomografia computadorizada é indicada como exame de primeira escolha. Trinta e quatro pacientes foram submetidos à cirurgia, tendo sido a mortalidade de 35,2%.

Forty cases of brain abscesses in patients under 15 years of age observed between 1960 and 1982 are reported in this study. There has been a progressive decrease in the number of admissions due to that disease. The typical clinical picture was subacute and characterized by intracranial hypertension, fever, alterations in the level of consciousness, seizures and signs of localization in a decreasing order of frequency. Otites and sinusites predominated as primary foci and the most common localizations were frontal and parietal. Electroencephalogram and examination of the cerebrospinal fluid were useful. Currently, computerized tomography is indicated as the test of choice. Thirty-four patients underwent surgeries and the mortality rate was 35.2%.

São registrados dois casos, ocorridos na mesma família, de anemia hipoplásica de Fanconi, nos quais um dos irmãos apresenta a tríade completa de anemia, malformações esqueléticas e quebras cromossômicas e, o outro, apenas as quebras cromossômicas.

Two familial cases of Fanconi's anaemia are reported. The princeps case shows the complete triad of anaemia, squeletic malformations and chromossome breakage, while in his brother only chromossome breakages were found.

É relatado um caso de nevos sebáceo linear de Jadassohn, com sua forma clínica, apresentando a clássica tríade: 1) nevos facial; 2) crises focais; e 3) retardo mental progressivo, aparentemente. Apresenta-se no primeiro estadio de desenvolvimento, quando as glândulas sebáceas estão pouco desenvolvidas, à biopsia de pele. À TAC apresenta atrofias córtico-subcorticais discretas, contrastando com a intensidade do retardo mental e das crises convulsivas. Estas, foram controladas após várias combinações medicamentosas.

Report of a case of linear nevus sebaceous of Jadassohn with the classical syndrome: 1) the facial linear nevus; 2) focal convulsions and 3) mental retardation. Skin biopsy didn't show proliferation of the sebaceous glands showing to be an early case. Computarized tomography showed slight cortico-subcortical atrophies, in contrast with the intensity of the mental retardation and focal crisis. Convulsions were controlled by several drug associations.

São registrados 14 casos da síndrome de hemiconvulsão, hemiplegia e epilepsia (H.H.E.) enfatizando-se os achados clínicos e radiológicos. São discutidas as bases fisiológicas dessa síndrome e a validade de sua caracterização para fins de tratamento e prognóstico.

14 cases of HHE syndrom are reported with special emphasis of the clinical and radiological aspects. The physiopathologic basis of that syndrome and the validity of his caracterization for treatment and prognostic purposes are discussed.

São relatados dois casos típicos de picnodisostose ocorrendo na mesma família. São discutidos os achados clínicos, radiológicos e laboratoriais.

Two new cases of pycnodysostosis occurring in the same family are reported. Clinical, roentgenographic and laboratory findings are discussed.

E feita uma tentativa de relacionar os modernos conhecimentos da expressão genômica do sistema nervoso (SN) no homem, não sendo intensão deste artigo abordar os aspectos da evolução embrionário-fetal do SN do homem, e sim, enfocar o "equipamento neurológico" com o qual nascemos e como evolvemos para atingir a maturação. São, então, abordados os temas maturação e aprendizagem. Na maturação são ressaltados os aspectos de função e estrutura e, portanto, de mielinização do SN; no segundo aspecto - aprendizagem - são abordadas as várias teorias, dando-se ênfase à teoria do condicionamento, baseada em Pavlov. Após a revisão destas bases, o neurofenótipo da criança é dividido em 3 tipos: manifestações permanentes, manifestações reflexas transitórias e manifestações reflexas evolutivas. O neurofenótipo do RN normal se caracteriza por: 1 - atitude assimétrica tendendo ao padrão do reflexo tônico-cervical assimétrico; 2 - hipertonia generalizada em flexão dos 4 membros, contrastando com a hipotonia da musculatura paravertebral; 3 - presença, em 100% dos RN, dos reflexos miotáticos: patelares, adutores, tricipitais e naso-palpebrais, sendo obrigatória a simetria das respostas; 4 - reflexo cutâneo-plantar em extensão do hálux, com ou sem leque em 100% dos RN; 5 - atividades automáticas ou reflexas presentes em 100% dos RN; reflexo tônico-cervical assimétrico (fragmentado em 70%: completo em 30%), marcha reflexa, apoio plantar automático, sucção; 6 - reflexo dos "olhos de boneca" em 100%; 7 - reflexo fotomotor em 100%. A seguir são apresentadas as fases evolutivas do lactente normal separadas em 5 idades-chaves. Finalmente são apresentadas as conclusões do Exame Neurológico Evolutivo (ENE) do grupo de Lefèvre que mostra importantes correlações entre a maturação e certas funções, principalmente no que diz respeito, à sensibilidade pro-prioceptiva e às sensibilidades gnósicas.

An attempt to the modern knowledge of the genomic expression of the nervous system (NS) is done but the authors do not want do demonstrate the evolutive espeçts of the embrionary-fetal development of the NS of man, but stress the "neurological equipament" which we were born with and how we get to maturity. Maturation and learning are focalized. In the subject of maturation the aspects of function and structure are shown. As to the second aspect - learning - many theories, are reviewed, being emphasized Pavlov's condicio-nement. After the revision of these basis the neurophenotype of children is divided in 3 types: 1) permanent manifestations with which the children are born and that are constant and practically do not modificate during their evolution (uncondicionated reflexes and the primitive sensibilities); 2) transitory reflex manifestations are archaic or reflex manifestations which disappear with the evolution returning just in pathological situations (tonic-neck assymetric reflex of Magnus-De Kleijn, Moro's reflex, Laudau's reflex and cutaneous-plantar in extension); 3) evolutive reflex manifestations - with which children are born, reflexes or automatics in the beginning, and which disappear with the evolution being replaced by the same activities, although in voluntary character, passing or not through a nitid inhibiting phase; lately some of these activities are automatized constituting in secondary automatisms (suction, prehension, automatic march, reflex of swimming). Myra y Lopez interpretate these functions in his terminology as "deflexes". The neurophenotype of the normal term NB is characterized by the following items, according to Lefèvre and Diament's works: 1 - Asymmetric attitude determined by the asymmetric tonic-neck reflex pattern; 2 - generalized hypertonia of the flexor muscles of the 4 limbs and of the thigh adductors; 3 - more frequent myotatic reflexes: patellar, adductor, tricipital and naso-palpebral, being necessary the symmetry of the responses; 4 - the plantar cutaneous reflex in extension of the hallux with or without spreading of the other toes present in 100% of the RN; 5 - automatic or reflex activities present in 100% of the RN; assymetric tonict-neck reflex (fragmentated in 70%, complete in 30%), reflex walking, automatic plantar support, suction; 6 - reflex of the "doll's eye" in 100%; 7 - photomotor reflex in 100%. The key-ages of the neurological evolution of the normal lactent determinated by us in 1967, are also expression of the normal neurophenotype and may be summarized as follows; A-1) from the RN until the end of the lst month: Vocal expression: inarticulated cry; initiation of the lallaction after the 1st month. Posture: asymmetric attitude, with or without asymmetric tonic-neck reflex: general hypertonia in flexion; hypotonia of the paravertebral muscles. Myotatic and superficial reflexes: more liverliness myotatic reflexes; the plantar-cutaneous reflex in extension of the hallux with or without spreading of the other toes: Primitive motor manifestations: the more frequent in the NB of normal term are suction, grasping of fingers and toes, Magnus-De Kleijn's TNR pattern, Moro's, walking reflex and plantar support. Ocular reflexes: photomotor reflex and doll's-eye proof. A-2) from the beginning of the 2nd month until the end of the third: Vocal expression: evident lallation. Posture: loss of asymmetric attitude; beginning of the symmetric attitude, head supine, recumbent position; beginning of complete and uncomplete upholding of the head; persistence of the hypertonia; general flexor hypertonia, although less pronounced. Superficial and myotatic reflexes: reduction of the liveliness of myotatic reflexes; persistence of the plantar-cutaneous reflex in extension of the hallux with or without spreading of the hallux. Archaic reflexes: persistence of the following primitive motor manifestations; suction, prehension of fingers and toes, Moro's plantar support and walking reflex; loss of Magnus-De Kleijn's reflex; beginning of higher incidence of Landau's reflex (I and II). Ocular reflexes: loss of answer to the doll's-eye proof from the end of the 3rd month on. A-3) from the beginning of the 4th month until the end of the 6th month: Vocal expression: estabilization of the lallation. Posture: beginning of the attitude 3 (or change of decubitus) and of the attitude 4 (change of position from laying to sitting); complete upholding of the head was observed in all examined children at the end of the 4th month; start sitting with support; beginning of the orthostatic position with support; reduction of the hypertonia in flexion. Locomotion: starting the voluntary walking with support in the 5th month. Coordenation; estabilization of the voluntary palmar prehension; beginning of the hand-handkerchief and hand-object coordination; beginning of the pincer's prehension in the 6th month. Superficial reflexes: beginning of cutaneous-plantar reflex in inconstant extension of the hallux. Archaic reflexes: loss of Moro's reflex not complete until the end of the 6th month; loss of the palmar prehension reflex until the beginning of the 6th month; loss of the plantar support until the beginning of the 5th month; loss of the walking reflex until the end of the 4th month; estabilization of the Landau's reflex I and II. Ocular reflexes: following the light stimulus from several direction in 100% of the children up to the 5th month. A-4) beginning at the 7th until the end of the 9th month: Vocal expression: beginning of the first words and phrase-words at the 8th month; gradual loss of lallation. Posture: spontaneous attitude related with the decubite (attitude 4); sitting without support in 100% from the 9th month on; evolution of the orthostatic position with support; stabilization of the normal tonus for the age or "phisiological hypotonia"; loss of hypertonia on generalized flexion of limbs starting in the beginning of the 7th month. Locomotion: beginning of crawling starting in the 8th month; beginning of walking with support. Coordenation: stabilization of the coordination hand-handkerchief on the face and hand-object; stabilization of prehension in pincers until the end of the 9th month. Superficial reflexes: stabilization of the plantar-cutaneous reflex in inconstant extension of the hallux and beginning of the answer in flexion in the 9th month. A-5) from the beginning of the 10th month until the 12th: Vocal expression: diseppearance of the lallaction at the end of the 11th month; predominance of the first words. Posture: spontaneous attitude (nº 4) respecting decubits; stabilization of the orthostatic position with support; beginning of the orthostatic position without support at the 11th month; predominance of "physiological hypotonia". Locomotion: stabilization of crawling; stabilization of walking with support; beginning of walking without support in the 11th month. Superficial reflexes: predominance of the plantar-cutaneous reflex in flexion at the 12th month. Archaic reflexes: disappearance of prehension reflex in the toes at 12 months; disappearance of palmar prehension at the end of the 11th month; stabilization of the prehension in pincers. Finally the conclusions of the Evolutive Neurological Examination of the group of Lefèvre showing important correlations between the maturation and certain functions, mostly regarding the proprioceptive and gnostic sensibilities are reported.