Schwartz-jampel syndrome: report of five cases

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

King-Denborough syndrome: report of two Brazilian cases

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia

A pilot study of topiramate in children with Lennox-Gastaut syndrome

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 per cent in 4, and < 50 per cent in 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 per cent of patients, long term safety was confirmed and QL improve on TPM.

Subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is an inflammatory neurodegenerative disease related to the persistence of measles virus. Although its frequency is declining because of measles eradication, we still have some cases being diagnosed. With the aim to describe epidemiological aspects of SSPE in Brazil, we sent a protocol to Child Neurologists around the contry, 48 patients were registered, 27 (56 per cent) were from the southeast region, 34 (71 per cent) were male and 35 (73 per cent) white, 27 (56 per cento) had measles, 9 (19 per cent) had measles and were also immunized, 7 (14 per cent) received only immunization, 1 patient had a probable neonatal form. Mean time between first symptoms and diagnosis was 12 months (22 started with myclonus or tonic-clonic seizures, 7 (14 per cent) with behavioral disturbances); 36 patients (75 per cent) had EEG with pseudoperiodic complexes. Follow up performed in 28 (58 per cent) patients showed: 12 died, 2 had complete remission and the others had variable neurological disability Our data shows endemic regions in the country, a high incidence of post-immunization SSPE and a delay between first symptom and diagnosis.

Treatment of febrile seizures with intermittent clobazam

Fifty children, 24 female and 26 male, with ages varying from 6 to 72 months (mean=23.7 m.) that experienced at least one febrile seizure (FS) entered a prospective study of intermittent therapy with clobazam. Cases with severe neurological abnormalities, progressive neurological disease, afebrile seizures, sympromatic seizures of other nature, or seizures during a central nervous system infection were excluded. Seizures were of the simple type in 25 patients, complex in 20 and unclassified in 5. The mean follow-up period was 7.9 months (range=1 to 23 m.), and the age at the first seizure varied from 5 to 42 months (mean=16.8 m.). Clobazam was administered orally during the febrile episode according to the child's weight: up to 5 kg, 5 mg/day; from 5 to 10 kg, 10 mg/day; from 11 to 15 kg, 15 mg/day, and over 15 kg, 20 mg/day. There were 219 febrile episodes, with temperature above 37.8 degrees Celsius, in 40 children during the study period. Twelve children never received clobazam and 28 received the drug at least once. Drug efficacy was measured by comparing FS recurrence in the febrile episodes that were treated with clobazam with those in which only antipyretic measures were taken. Ten children (20 percent) experienced a FS during the study period. Of the 171 febrile episodes treated with clobazam there were only 3 recurrences (1.7 percent), while of the 48 episodes treated only with antipyretic measures there were 11 recurrences (22.9 percent), a difference highly significant (p<0.0001). Adverse effects occurred in 10/28 patients (35.7 percent), consisting maily in vomiting, somnolene and hyperactivity. Only one patient had recurrent vomiting which lead to drug interruption. These effects did not necessarily ocurred in every instance the drug was administered, being present in one febrile episode and not in the others. We conclude that clonazepam is safe and efficacious in preventing FS recurrence. It may be an alternative to deazepam in the intermittent treatment of FS recurrence.

Espícula-onda contínua durante o sono. Aspectos clínicos e eletrencefalográficos / Continuous spike-wave activity during sleep and eletroencephalographical aspects

Dezessete crianças com espícula-onda contínua durante o sono foram estudadas retrospectivamente. Cinco apresentavam distúrbio da fala após desenvolvimentos normal da linguagem e crise 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 acentuaçäo das descargas nas regiöes 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 padräo eletrográfico inespecífico de certos tipos de epilepsia na infância com diferentes manifestaçöes clínicas, que mostra no entanto certa diferenciaçäo topográfica, de acordo com os prováveis sítios lesionais.

Síndrome de Angelman: causa frequentemente näo reconhecida de deficiência mental e epilepsia: relato de caso / Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report

Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsöes, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleçäo do segmento 15q11q13 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.

Neurologia infantil

Aborda as dietas modificadas com fins terapêuticos.

Dopa-sensivite progressive dystonia of childhood with diurnal fluctuations of symptoms

A distonia progressiva da infância responsiva à levodopa, também conhecida como doença de Segawa, à uma forma rara de doença extrapiramidal de herança autossômica dominante na faixa etária pediátrica. As principais características clínicas da doença säo as manifestaçöes distônicas e parkinsonianas que, na maioria dos casos, apresentam variaçäo diurna, sendo ausentes ou de pequena magnitude pela manhä e piorando com o transcorrer do dia. O tratamento com pequenas doses de levedopa resulta na melhora completa ou significativa da sintomatologia. Relata-se o caso de uma criança de 11 anos de idade, do sexo feminino, que a partir dos 2 anos, de idade, apresentava postura distônica dos pés levando a assumir posiçäo equina à marcha. A flutuaçäo da postura durante o decorrer do dia foi observada pela mäe desde o início. Aos 7 anos, ela desenvolveu desvio lateral da cabeça para a esquerda associada a postura flexora do membro superior ipsolateral. Houve piora progressiva dos sintomas até que aos 10 anos de idade a sintomatologia era observada ao despertar. O exame neurológico permitiu detectar postura distônica da cabeça e do membro superior esquerdo, rigidez generalizada nas extremidades e leve tremor palpebral. Os exames laboratoriais, incluindo dosagens de cobre e ceruloplasmina, foram normais ou negativos, bem como os exames de neuro-imagem. O tratamento com levodopa foi iniciado com dosagem de 150 mg/dia, com melhora completa e imediata da sintomatologia. Após 1 ano de seguimento, ela está assintomática, tomando levodpa na dose de 100 mg/dia. Nenhum efeito colateral devido à terapêutica foi observada neste período

Autosomal recessive nondystrophic myotonia: report of a case with unusual clinical course

As miotonias näo distróficas hereditárias podem ser divididas em um grupo mais heterogêneo, de herança autossômica dominante, que inclui a miotonia congênita de Thomsen, a paramiotonia congênita, a miotonia fluctuans e paralisia periódica hipercaliêmica; e em uma forma mais rara, de herança autossômica recessiva, que é a miotonia congênita de Becker. É descrito o caso de uma adolescente com uma forma de miotonia de herança provavelmente autossômica recessiva, cujos achados clínicos, entretanto, säo mais compatíveis com as formas de herança autossômica dominante, principalmente a miotonia congênita de Thomsen ou a miotonia fluctuans. Além do quadro clínico atípico apresentado pela paciente, säo discutidos os aspectos principais do tratamento medicanmentoso mais empregado atualmente para aliviar o fenômeno miotônico

Distrofia miotônica: estudo da correlaçäo clínico-genética em um par familiar (pai-filho) / Myotonic dystrophy: study of clinical-genetic correlation in a familial pair

É relatado o caso de um paciente com início da sintomatologia aos 7 anos de idade, cujo estudo genético e o de seu pai, portador assintomático, revelou um fragmento adicional de DNA, maior no paciente sintomático do que no pai portador. Os dados proveniente do estudo genético deste par familiar em geraçöes sucessivas, provavelmente o primeiro realizado no Brasil desde a recente descoberta por autores americanos do tipo de anormalidade genética presente na distrofia miotônica, vêm salientar a explicaçäo genética para o fenômeno clínico da antecipaçäo. Säo comentados resumidamente os principais avanços no campo da genética molecular desta doença e sua correlaçäo ao início precoce da sintomatologia, como ocorreu no nosso paciente

Amiotrofia espinal infantil com evoluçäo atípica: relato de dois casos / Infantile spinal amyotrophy with atypical course: report of 2 cases

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. Säo apresentadas as classificaçöes mais aceitas da doença, discutindo-se a caracterizaçäo da forma clínica apresentada por nossos pacientes