Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome.

Two girls, 22 months and 12 years of age, presented with repeated cerebral infarctions in association with primary antiphospholipid syndrome. The younger patient also suffered from protein C deficiency, while the other one had protein S and complement C4 deficiencies. All other causes of cerebral infarction were excluded; however, vasculitis remains a possibility in one patient. Both girls developed spastic tetraparesis as a sequela of the previous infarctions. The two patients were treated with aspirin and prednisone, with remission of the infarctions during the next 8 months of observation. A primary deficiency of protein C or S is proposed which would produce cerebral thrombosis with exposure of phospholipids; this thrombosis then, like antigens, would generate antibodies acting on the thrombin-thrombomodulin complex, exacerbating the thrombotic process. The association of complement C4 deficiency is an additional risk factor.

[Discontinuous selective prophylaxis of febrile convulsions at home with rectal diazepam]. / Profilaxis selectiva discontinua en domicilio de recurrencias de convulsiones febriles con diazepam rectal.

Selective episodic prophylactic home treatment with rectal diazepam in children with febrile convulsions should reduce the risks of permanent long term anticonvulsive drug therapy. To evaluate this approach and its side effects, selective prophylaxis (rectal diazepam, 0.6 mg x kg at 8 to 12 hour intervals) was given to 15 children with previous febrile convulsions whenever their axillary temperature raised to 38 C degrees or over. They were followed up for a mean of 7.73 months (range 3 to 20 months). In a total of 27 febrile episodes only 2 seizures occurred, each to a different patient and in both cases when treatment was inadvertently withheld. No recurrences were observed in the remaining 13 patients involving 25 treated febrile crisis. The small number of patients precluded evaluation of the effects of risk factors in recurrence rates. Mild and transient collateral effects were detected in 46.6% patients and in 32.0% of the observed febrile periods. In spite of the small number of patients and short follow-up period these results suggest, that episodic, non permanent, treatment with rectal diazepam is an appropriate alternative to traditional continuous oral anticonvulsive therapy for children with febrile convulsions.

[Adverse effects of valproic acid in epileptic infants and adolescents]. / Efectos colaterales del ácido valproico en crisis epilépticas infantiles y del adolescente.

Although valproic acid as well as its derivatives are effective in the treatment of some epileptic seizures, they are not free of adverse side effects. The purpose of this work was to describe the collateral clinical effects of valproic acid, the associated changes that take place in some serum laboratory parameters, and correlations among these adverse clinical effects, drug serum level and therapeutic response. One hundred patients aged 7 months to 19 years (average 5 year and 6 month old) were followed for at least 13 months. Clinical collateral effects were observed in 14% patients, anorexia and hair loss being the most frequent. One third of patients showed raised serum alkaline phosphatase and transaminases values, while lower than normal prothrombin time and platelet counts were detected in 4% and 1% of patients, respectively. In one patient treatment was interrupted because of low platelet counts which persisted in spite of drug withdrawal, but basal counts were not done, so it is not possible to establish causal relationships between both events. No correlation between adverse clinical symptoms and valproic acid plasma levels was observed. In spite of the fact that basal laboratory values were not known and that abnormal tests were not repeated for confirmation, collateral clinical effects and laboratory findings associated to treatment with valproic acid seemed not severe in this series. Anyway, taking into account drug characteristics, it should always be used with caution.

[Juvenile myoclonic epilepsy: Janz' syndrome]. / Epilepsia mioclónica juvenil (Síndrome de Janz).

Thirty two patients with juvenile myoclonic epilepsy are described. The most relevant aspects of the disease are the following: it starts at nearly 12 years of age or before; it is frequently associated with generalized tonic-clonic seizures; myoclonic and tonic-clonic seizures occur at time of awaking or shortly after; no pathological findings occur at the central nervous system; a large number of relatives show generalized seizures and the interictal electroencephalogram is usually disturbed by generalized epileptic activity. Valproic acid, preferably alone, is probably the treatment of choice for these patients.

[Juvenile myoclonic epilepsy. Life difficulties and response to treatment]. / Epilepsia mioclónica juvenil. Dificultades de vida y respuesta al tratamiento.

Juvenile myoclonic epilepsy (JME) may have different forms of clinical expression and produces different kinds of life difficulties. Both eventualities have not been sufficiently described in the literature. Treatment with valproic acid is useful but requires strict compliance of medical instructions. Thirty two patients with this disease, are presented in order to describe their presenting forms, associated life handicaps and the results of their treatment. The disease may first present as tonic-clonic, complex absence or complex partial seizures, followed months or years later, by typical myoclonic crisis or as JME to which other kinds of epileptic crisis may or not be added after some time. Twenty four (75%) patients had 38 life difficulties, these being, mainly, objects dropped from hand, burns and parental aggression. Eighteen (56.25%) patients had relapses during treatment. In 14 cases (77.77%) relapses were due to noncompliance, 8 (57.19%) patients couldn't afford the cost of valproic acid. Knowledge of the presenting forms of the disease may favor opportune diagnosis and treatment, which would prevent life difficulties. Relapses are mainly due to noncompliance and economic reasons.

[Treatment of status epilepticus with rectally administered diazepam]. / Tratamiento del estado epiléptico con diazepam por vía rectal.

Rectal administration of diazepam is a good alternative to intravenous acute treatment in severe epileptic crises, but there is scarce information about its usefulness in status epilepticus. Treatment with rectal diazepam, 0.6 to 0.8 mg x kg of body weight as a single drug, in 10 children with 13 episodes of status epilepticus, defined as epileptic crises lasting 30 or more minutes (ten of these were generalized tonic and clonic, two were unilateral tonic and clonic, and one was of the partial complex type) is described. Nine status epilepticus episodes subsided at an average 4.4 minutes after the drug was given; in 3 cases there were no favourable effects, and one case recurred after initial response. There were no significant complications, with the exception of slight respiratory depression in a patient with encephalitis. In spite of the small size of the sample, these results suggest that rectal diazepam is an effective alternative to intravenous drug administration in the management of status epilepticus whenever venous access is difficult.

[Auditory brainstem evoked potentials in hearing loss after bacterial meningitis]. / Potenciales evocados auditivos de tronco cerebral en la hipoacusia postmeningítica.

Fourteen children with acute bacterial meningitis, were examined for auditory brainstem evoked potentials (ABEP) during their initial hospital course (days 3 to 24 from admission). Different degrees of neurosensory hypoacusia were detected in 8 patients (57.14%). Children aged less than one year seemed to be more susceptible to auditory deficit. In 6 children a second ABEP was done after a time interval which ranged from 20 to 570 days after the first one and all them showed residual hypoacusia. The short term evolution suggests that the acute process can be prolonged for more than 1 month after hospital admittance, and the altered auditory function tends to persist over the mid term. It is concluded that despite this research's methodological limitations. ABEP seem useful for early detection of postmeningitical neurosensory hypoacusia and follow-up of these patients.

Consenso chileno de manejo de fármacos antiepilépticos en algunos síndromes electro-clínicos y otras epilepsias en niños y adolescentes / Chilean consensus on the use of antiepileptic drugs in electro-clinical syndromes

Por iniciativa de tres instituciones: Liga Chilena contra la Epilepsia (LICHE), Sociedad de Epileptología de Chile (SOCEPCHI) y Sociedad de Psiquiatría y Neurología de la Infancia y Adolescencia (SOPNIA) de Chile, se constituye un comité de trabajo que convoca a un consenso de uso de fármacos antiepilépticos (FAEs) en un grupo de 16 Síndromes electro-clínicos y otras Epilepsias en niños y adolescentes. Cuarenta y dos médicos neuropediatras especialistas en Epilepsias de todas las regiones de Chile, participaron en la discusión y realizaron una propuesta de tratamiento farmacológico para cada cuadro. El comité de trabajo realizó un análisis exhaustivo y discusión de los documentos, para finalmente concluir en una recomendación de tratamiento para cada cuadro. Este consenso es una guía práctica de orientación para ayudar a las decisiones de tratamiento en situaciones clínicas concretas. Su objetivo final es ofrecer una mejor calidad de atención a los niños y adolescentes con epilepsias, a través de decisiones fundadas que contribuyan a disminuir la variabilidad de las decisiones terapéuticas.

Committed by three institutions: Liga Chilena contra la Epilepsia (LICHE), Sociedad de Epileptología de Chile (SOCEPCHI) y Sociedad de Psiquiatría y Neurología de la Infancia y Adolescencia (SOPNIA) de Chile, a 6-member working committee called for a meeting of 42 Chilean pediatric epileptologists from all over the country, with the aim of reaching a consensus on the use of antiepileptic drugs in 16 selected children and adolescents electro-clinical syndromes and epilepsies. These treatment proposals were analyzed and fully discussed by the working committee, ending in an antiepileptic drug treatment recommendation guideline for each condition. This consensus is a practical guideline to be used in specific clinical situations, which aims to support treatment decision making. Its main purpose is to offer the best evidence based treatments to our children and adolescents patients with epilepsy, thus contributing to diminish variability in therapeutic decisions.