Aicardi syndrome: a case report / Síndrome de Aicardi: relato de caso

Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.

Resumo Introdução: a Síndrome de Aicardi (SA), caracteriza-se como uma síndrome rara identificada na presença das três características clássicas: agenesia de corpo caloso, lacunas coriorretinianas e espamos infantis. Descrição: a coleta de dados envolveu informações relatadas pela genitora e pelo fisioterapeuta acompanhante da paciente, descrevendo assim a história clínica da paciente, as principais complicações de acordo com a evolução clínica, o tratamento e resposta terapêutica. Aos dois meses de idade a criança apresentou atraso no desenvolvimento neuropsicomotor e espasmos infantis, porém o diagnóstico da síndrome foi realizado somente aos seis meses de vida envolvendo um exame de ressonância magnética de encéfalo onde foi observada agenesia de corpo caloso, iniciando-se tratamento multidisciplinar com neuropediatra, fisioterapeuta, psicólogo, nutricionista e fonoaudiólogo, além do tratamento medicamentoso com baclofeno e fenobarbital. Discussão: através do tratamento estabelecido, a criança obteve ganho motor, controle cervical, melhora da condição respiratória e sem internações hospitalares, caracterizando uma boa evolução associada particularmente à intervenção fisioterapêutica que teve enfoque na prevenção e minimização de alterações respiratórias frequentemente associadas à morbidades e mortalidade nestes casos. Os resultados obtidos apontam o papel fundamental da intervenção multidisciplinar para o enfrentamento desta condição.

Síndrome de abstinencia neonatal debido a exposición prenatal al citalopram: a propósito de un caso / Neonatal abstinence syndrome due to prenatally citalopram exposure: A case report

El síndrome de abstinencia neonatal (SAN) debido a la exposición prenatal al citalopram se desarrolla durante los primeros días de vida, incluso con una exposición al fármaco en dosis bajas. El tratamiento de apoyo es la primera opción, aunque puede usarse el fenobarbital en el tratamiento de este síndrome. No debe interrumpirse la lactancia. Debe hacerse un seguimiento de estos recién nacidos para establecer el desenlace del SAN y las consecuencias en el desarrollo neurológico. En este artículo presentamos el caso de un recién nacido con SAN debido a exposición al citalopram en una dosis más baja que lo informado previamente en la bibliografía durante los últimos seis meses del embarazo. Se utilizó el fenobarbital debido al fracaso del tratamiento no farmacológico.

Neonatal abstinence syndrome (NAS) due to prenatally exposure to citalopram can develop during the first days of life even with low dose of drug exposure. Supportive management is the first choice but phenobarbital can be used in treatment of this syndrome. Breastfeeding should not be interrupted. These neonates should be followed both for NAS and neurodevelopmental outcome. In this article, we reported a newborn with NAS due to citalopram exposure with a lower dose than previously reported in the literature, during the last six months of pregnancy. Phenobarbital was used because of non-pharmacological treatment failure.

Neurocysticercosis in asplenic patient, case report / Neurocisticercose em paciente asplênico, relato do caso

Neurocysticercosis is an important cause of neurologic and psychiatric disorders; it is a frequent etiology for acquired epilepsy worldwide. The parasitic infection of Taenia solium (including larval dissemination to the nervous system) can be avoided by effective means of prevention. Nonetheless, this disease remains endemic in many regions of the world. To demonstrate the importance of prophylaxis this paper reports the case of a patient without spleen, who was treated for neurocysticercosis manifested by epilepsy. In twenty years of follow up, the patient did not experience a repeat occurrence of neurocysticercosis, despite of immunological impairment (absence of spleen) and environmental exposure (living in an endemic area). Prevention was guided by a regular use of anthelmintic (Albendazole) and health education.

Neurocisticercose é uma importante causa de doenças neurológicas e psiquiátricas, é uma frequente etiologia de epilepsia adquirida, no mundo. A infecção parasitária da Taenia solium (incluindo a disseminação das larvas para o sistema nervoso) pode ser evitada por meios eficazes de prevenção; no entanto, esta enfermidade ainda é endêmica em muitas regiões do mundo. Para demonstrar a importância da profilaxia relata-se o caso de um paciente sem baço, o qual foi tratado para a neurocisticercose manifestada por epilepsia. Em vinte anos de seguimento, o paciente não repetiu a ocorrência de neurocisticercose, apesar de dano imunológico (ausência de baço) e exposição ambiental (habitação em área endêmica). A prevenção foi guiada pelo uso regular de anti-helmíntico (Albendazole) e medidas educativas em saúde.

Montelukast reduces seizures in pentylenetetrazol-kindled mice

Cysteinyl leukotrienes (CysLTs) have been implicated in seizures and kindling; however, the effect of CysLT receptor antagonists on seizure frequency in kindled animals and changes in CysLT receptor expression after pentylenetetrazol (PTZ)-induced kindling have not been investigated. In this study, we evaluated whether the CysLT1 inverse agonist montelukast, and a classical anticonvulsant, phenobarbital, were able to reduce seizures in PTZ-kindled mice and alter CysLT receptor expression. Montelukast (10 mg/kg, sc) and phenobarbital (20 mg/kg, sc) increased the latency to generalized seizures in kindled mice. Montelukast increased CysLT1 immunoreactivity only in non-kindled, PTZ-challenged mice. Interestingly, PTZ challenge decreased CysLT2 immunoreactivity only in kindled mice. CysLT1 antagonists appear to emerge as a promising adjunctive treatment for refractory seizures. Nevertheless, additional studies are necessary to evaluate the clinical implications of this research.

Esquizencefalia de labio cerrado bilateral: a propósito de un caso / Schizencephaly of bilateral closed lip: speaking of one case

La esquizencefalia es un desorden de la migración neuronal, caracterizada por hendiduras de sustancia gris en los hemisferios cerebrales que se extienden desde la superficie pial a los ventrículos laterales. Esta patología es el resultado final de una amplia variedad de factores genéticos, tóxicos, metabólicos y de agentes infecciosos que ocurren durante un período crítico del desarrollo cerebral. Esta malformación puede ser unilateral o bilateral y puede ser dividida en dos subtipos: de ¨labios cerredos" o tipo I, o de "Labios abierto" o tipo II. Presentamos el caso de una paciente demenina de 37 años de edad con epilepsia y hallazgos neurorradiológicos de esquizencefalia de "labios cerrados" bilateral

Schizencephaly is a rare developmental of neuronal migration, characterized by congenital clefts spanning the cerebral hemisphere from the pial surface to the lateral ventricle and lined by cortical gray matter. The lesion is the final result of a variety of etiologies including genetic, toxic, metabolic and infectious agents during a critical period of the development of the brain. This malformation can be unilateral or bilateral and may be divided in two subtypes: "closed tips" or type I and "open tips" or type II. We present 37 years old female patient with epilepsy and neuroradiological findings of bilateral "closed lips" schizencephaly

Congenital hypoplasia of the internal carotid artery.

A newborn presented at 14 hrs of age with right sided clonic seizures and shrill cry. Magnetic Resonance Imaging of the brain showed left cerebral hemiatrophy with cystic changes in left fronto-parietal lobe and parasylvian region. The Magnetic Resonance Angiography revealed hypoplasia of left supraclinoid Internal Carotid Artery and hypoplasia and irregularity of vessel wall affecting the left Middle Cerebral Artery. Such an early presentation of this rare disorder has not been reported previously. Recognition of this anomaly has important implications during carotid and trans-sphenoidal surgery, in thromboembolic disease, and in the surveillance and detection of associated cerebral aneurysms.

Post-resuscitation management of asphyxiated neonates.

Inspite of major advances in monitoring technology and knowledge of fetal and perinatal medicine, perinatal asphyxia is one of the significant causes of mortality and long term morbidity. Data from National Neonatal Perinatal Database suggests that perinatal asphyxia contributes to almost 20% of neonatal deaths in India. "Failure to initiate or sustain respiration after birth" has been defined as criteria for the diagnosis of asphyxia by WHO. Perinatal asphyxia results in hypoxic injury to various organs including kidneys, lungs and liver but the most serious effects are seen on the central nervous system. Levene's classification is a useful clinical tool for grading the severity of hypoxic ischemic encephalopathy. Good supportive care is essential in the first 48 hours after asphyxia to prevent ongoing brain injury in the penumbra region. Strict monitoring and prompt correction is needed for common problems including temperature maintenance, blood sugars, blood pressure and oxygenation. Phenobarbitone is the drug of choice for the treatment of convulsions.

Jaundice in the newborns.

Hyperbilirubinemia is the commonest morbidity in the neonatal period and 5-10% of all newborns require intervention for pathological jaundice. Neonates on exclusive breast-feeding have a different pattern and degree of jaundice as compared to artificially fed babies. Latest guidelines from the American Academy of Pediatrics (AAP) for management of jaundice in a normal term newborn have been included in the protocol. Separate guidelines have been provided for the management of jaundice in sick term babies, preterm and low birth weight babies, for hemolytic jaundice and prolonged hyperbilirubinemia.

Bone density and bone turnover markers in patients with epilepsy on chronic antiepileptic drug therapy

In this comparative, cross-sectional study, we evaluated 55 patients with epilepsy on chronic use of antiepileptic drugs (AED); [(38 females and 17 males, 35 ± 6 years (25 to 47)] and compared to 24 healthy subjects (17 females/7 males). Laboratorial evaluation of bone and mineral metabolism including measurements of bone specific alkaline phosphatase (BALP) and carboxyterminal telopeptide of type I collagen (CTX-I) were performed. Bone mineral density (BMD) was measured by DXA. BALP and CTX-I levels did not differ significantly between the groups. CTX-I levels were significantly higher in patients who were exposed to phenobarbital (P< 0.01) than those who were not. Patients presented BMD of both sites significantly lower than the controls (0.975 ± 0.13 vs. 1.058 ± 0.1 g/cm²; p= 0.03; 0.930 ± 0.1 vs. 0.988 ± 0.12 g/cm²; p= 0.02, respectively). Total hip BMD (0.890 ± 0.10 vs. 0.970 ± 0.08 g/cm²; p< 0.003) and femoral neck (0.830 ± 0.09 vs. 0.890 ± 0.09 g/cm²; p< 0.03) were significantly lower in patients who had been exposed to phenobarbital, in comparison to the non-phenobarbital users. In conclusion, patients on AED demonstrate reduced BMD. Among the AED, phenobarbital seems to be the main mediator of low BMD and increases in CTX-I.

Neste estudo comparativo, transversal, 55 pacientes com epilepsia [38 mulheres e 17 homens; 35 ± 6 anos (25 a 47anos)] foram comparados com 24 indivíduos normais (17 mulheres / 7 homens). Foi realizada uma avaliação laboratorial do metabolismo ósseo e mineral incluindo a dosagem de fosfatase alcalina específica óssea (BALP) e telopeptídeo carboxiterminal do colágeno tipo I (CTX-I). Densidade mineral óssea (DMO) da coluna lombar e do fêmur foi medida por DXA. BALP e CTX-I não foram diferentes entre os grupos. CTX-I foi significativamente mais elevado nos pacientes expostos ao fenobarbital do que os que não usaram essa medicação (p< 0,01). DMO de ambos os sítios foi menor no grupo de pacientes (0,975 ± 0,13 vs. 1,058 ± 0,1 g/cm²; p= 0,03; 0,930 ± 0,1 vs. 0,988 ± 0,12 g/cm²; p= 0,02, respectivamente). DMO do fêmur total (0,890 ± 0,10 vs. 0,970 ± 0,08 g/cm²; p< 0,003) e colo do fêmur (0,830 ± 0,09 vs. 0,890 ± 0,09 g/cm²; p< 0,03) foi significativamente menor nos pacientes que usaram fenobarbital. Em conclusão, pacientes portadores de epilepsia em uso crônico de drogas antiepilépticas (DAE) demonstraram uma redução da DMO. Entre as DAE, o fenobarbital parece ser o principal mediador da diminuição da DMO e do aumento do CTX-I.

Estudo da variação da concentração sérica de fenobarbital em cães cronicamente medicados / Study of the variation in the serum concentrations of phenobarbital in dogs exposured to a long term treatment

Com a finalidade de avaliar a variação na concentração sérica do fenobarbital durante um intervalo de 12 horas da sua administração, as concentrações séricas foram mensuradas a cada duas horas em 30 cães cronicamente medicados, durante no mínimo um mês. A determinação dos valores séricos de fenobarbital, por meio de Imunofluorescência polarizada. Os valores de meia-vida obtidos variaram de 13-131 horas, sendo que a maioria dos cães atingiram o estado de equilíbrio dinâmico por volta de 15 dias, e todos após quatro semanas, recomendando-se assim monitoração após quatro semanas do início da terapia ou após cada ajuste de dose. Houve diferença significante entre as médias das amostras coletadas duas e quatro horas (pico) com as das amostras coletadas imediatamente antes e oito, 10 e 12 horas após sua administração. Assim, para a monitoração, pode-se realizar a coleta sangüínea, imediatamente antes da administração do fenobarbital, ou em qualquer horário, entre oito a 12 horas após sua administração e nos casos suspeitos de intoxicação uma segunda amostra pode ser coletada dentro de duas a quatro horas após a sua administração.

In order to evaluate daily changes of concentration of phenobarbital during the interval of 12 hours of its administration, serum phenobarbital concentration were measured each two hours in 30 dogs submitted to the referred drug therapy for at least one month. All serum phenobarbital drug concentration were determined by use of a fluorecence polarization immunoassay. The values of half-lives obtained varied from 13 to 131 hours, most dogs reached steaty state serum concentrations by 15 days, and all dogs after four weeks. Therefore, clinicians should monitor serum phenobarbital concentrations four weeks after initiating treatment or after a change in dosage. There was significant difference among the averages of the samples two and four hours (peak) with the ones samples colected immediately before, and eight, 10 and 12 hours after its administration. In order to monitore serum phenobarbital concentrarions, its is suggest that blood collection is measured just before the dose or at any time between eight and 12 hours after its administration. If a concern arises regarding toxicity, a second sample should be colleted between two and four hours after phenobarbital administration.

Assessment of the epilepsy treatment gap in two cities of south-east of Brazil

OBJETIVO: Estimar a lacuna de tratamento em epilepsia nas cidades de Campinas e São José do Rio Preto, interior do Estado de São Paulo. MÉTODO: Estimamos a lacuna de tratamento através da fórmula n1-n2/n1x100, onde se utiliza o número de pessoas com epilepsia, calculado pela prevalência (n1), e a quantidade de pessoas que podem ser tratadas com a dose padrão para adultos das DAEs, distribuídas no período de um ano na localidade (n2). Usamos a prevalência estimada de 1,86% e consumo de medicação antiepiléptica fornecida pela rede básica de saúde nestas duas cidades. RESULTADOS: Nossas estimativas mostram que somente em torno de metade da população com epilepsia foi tratada em 2001 usando doses preconizadas de medicação antiepiléptica. CONCLUSÃO: A nossa estimativa aponta que uma parcela importante dos pacientes com epilepsia não está sendo tratada no nosso meio. Estudos epidemiológicos futuros devem explorar os motivos desta lacuna de tratamento para que intervenções sejam realizadas para melhorar a qualidade de vida dos pacientes com epilepsia.

Total external ophthalmoplegia induced by phenytoin: a case report and review of literature.

A 28-year-old male developed total external ophthalmoplegia following oral administration of phenytoin. The case is reported and its significance is discussed.

Manifestaciones neurológicas asociadas a infección por Mycoplasma pneumoniae / Neurological clinical manifestations associated to Mycoplasma pneumoniae infection

Mycoplasma pneumoniae, reconocido patógeno respiratorio, es también responsable de numerosas y variadas manifestaciones extrapulmonares, siendo las neurológicas las más frecuentes. Se presenta el caso de una escolar de 8 años, con un síndrome febril prolongado asociado a infección por M. pneumoniae que se complicó con encefalomielitis diseminada aguda. Se reportan otros seis casos con manifestaciones neurológicas: meningitis aséptica (1), meningoencefalitis (1), síndrome de Guillain Barré (1) y parálisis facial (3). La patogenia de las complicaciones neurológicas asociadas con infección por M. pneumoniae es aún desconocida, planteándose que algunas se deben a invasión directa del SNC y aquellas con pródromo prolongado, como encefalomielitis diseminada aguda, síndrome de Guillain Barré y mielitis transversa, obedecerían probablemente a fenómenos autoinmunes. En nuestro medio, en ausencia de RPC para confirmar el diagnóstico de esta infección, éste se fundamenta en la presencia de anticuerpos IgM o ascenso de IgG específica. La utilidad de los antimicrobianos en el control de estas manifestaciones neurológicas es discutida postulándose el uso de terapia inmunomoduladora.

Effect of 7-nitroindazole alone and in combination with phenobarbitone and diazepam on picrotoxin-induced convulsions in rats.

There are no reports on the effect of 7-nitroindazole (7-NI) on chemically-induced convulsions. Hence, in the present study, its (100 and 200 mg/kg) action was tested alone and in combination with phenobarbitone (20 mg/kg) and diazepam (0.25 mg/kg) on picrotoxin (PCT)-induced convulsions in rats. The changes produced by 7-NI on nitric oxide synthase (NOS) activity and nitric oxide (NO) concentration were determined in the brain. The effect of 7-NI was tested in L-arginine (1000 mg/kg) pretreated (30 min) animals. The smaller dose (100 mg/kg) of 7-NI did not alter NOS activity and NO concentration, but inhibited PCT-induced convulsions indicating that its anticonvulsant action was devoid of an involvement of NO. But, an inhibition of NOS activity, by a larger (200 mg/kg) dose of it, resulted in a promotion of the convulsant action of PCT and in an impairment of the anticonvulsant effect of both phenobarbitone and diazepam. The proconvulsant action of 7-NI was reverted by L-arginine. These results suggest that 100 and 200 mg/kg of 7-NI produce distinguishable action on PCT-induced convulsions because NOS activity is inhibited by 200 mg/kg and not by 100 mg/kg of it. The results further suggest that NO acts as anticonvulsant and that the NOS inhibitors, like 7-NI, cannot be used as an anticonvulsant either alone or in combination with other anticonvulsants.

Phenobarbitone prophylaxis for neonatal jaundice in babies with birth weight 1000-1499 grams.

Management of neonatal jaundice is simple but in sick, very low birth weight babies poses additional hemodynamic insult. Role of prophylactic postnatal phenobarbitone (two different dosage regimens) was evaluated prospectively on occurrence of neonatal jaundice and the need for therapy in 150 babies with birth weight 1000-1499 grams. Phenobarbitone in the dose of 10mg/kg given within 6 hours of life followed by 5mg/kg/day till day 5 of life intravenously significantly decreased the need for exchange transfusion and duration of phototherapy in babies with birth weight of 1000-1499 grams. This dosage schedule was better than dose of 5mg/kg for 5 days in significantly reducing the duration of phototherapy

Hipertiroidismo neonatal: presentación de 2 pacientes / Neonatal hyperthyroidism. Report of 2 cases

Se presentaron 2 pacientes con diagnóstico de hipertiroidismo neonatal: uno del sexo masculino y otro del femenino; con antecedentes de ser hijos de madres con enfermedad de Graves; una de ellas se encontraba sin tratamiento, y con síntomas de hipertiroidismo y la otra con tratamiento y tenía controlada esa afección. Se realizó el diagnóstico por los antecedentes de ser hijos de madres con enfermedad de Graves Basedow; así como por las manifestaciones clínicas: bocio, exoftalmos, pérdida de peso, irritabilidad, taquicardia e insuficiencia cardíaca en uno de los pacientes. Según los exámenes de laboratorio realizados, se obtuvieron los resultados siguientes: T4 ³ 180 nmol/L y TSH < 1 mU/L, en ambos pacientes. Se les indicó tratamiento con propiltiuracilo, propranolol y fenobarbital, así como medidas generales y digitálicos en el paciente que lo requirió. Se logró una evolución favorable en ambos pacientes(AU)

2 patients with diagnosis of neonatal hyperthyroidism, a male and a female, are presented. Their mothers suffer from Graves' disease, one of them has no treatment and presents symptoms of hyperthyroidism, and the other is under treatment and her disease is under control. The diagnosis was made taking into account that they are children from mothers with Graves Basedow' disease and the following clinical manifestations: goiter, exophthalmos, weight loss, irritability, tachycardia and cardiac insufficiency in one of the patients. The results of the laboratory tests for both patients were: T4 ³ l80 nmol/L and TSH < 1 U/L. Treatment with propylthiouracilo, propanolol and phenobarbital as well as general measures and digitalis therapy in the patient requiring it were indicated. A favorable evolution was observed in these 2 patients(AU)

Seizures in the newborn.

Seizures in the newborn period constitute a medical emergency. Subtle seizures are mild paroxysmal alterations in motor or autonomic activity and are unique to the neonatal period. They are likely to be missed or confused with benign movements observed commonly in preterm children. Focal clonic seizures have a better prognosis as compared to myoclonic seizures for long-term neuro-developmental outcome. Seizures due to sub-arachnoid hemorrhage and late onset hypocalcemia carry a better prognosis as compared to seizures due to hypoglycemia, meningitis and cerebral malformations. Hypoglycemia and hypocalcemia are common causes and should be excluded in all neonates with seizures. Multiple etiologies can co-exist in neonatal seizures and a comprehensive approach for management of neonatal seizures has been described.