Gemelos con convulsiones febriles: coincidencia en tiempo y etiología / Febrile seizures in siblings: coincidence in timing and aetiology

Las convulsiones febriles tienen alta prevalencia en la infancia y son un motivo de consulta frecuente en Urgencias, generando gran ansiedad en los cuidadores. La etiología es multifactorial y se ha descrito una agregación familiar (hasta el 25-40% de los niños con crisis febriles presentan antecedentes familiares de estas). Sin embargo, esta es la primera vez que se describen convulsiones febriles en hermanos al mismo tiempo y con el mismo hallazgo microbiológico. Presentamos dos parejas de hermanos gemelos de 23 y 33 meses, valorados en Urgencias por crisis febriles al mismo tiempo que su respectivo gemelo. La exploración física y el examen neurológico fueron normales en todos ellos. La PCR para enterovirus recogida en faringe y/o recto fue positiva. En todos los casos la recuperación fue completa, permitiendo el alta sin requerir otros estudios. En los últimos años, las infecciones por enterovirus están adquiriendo importancia creciente en el papel de las convulsiones. Ante casos de hermanos con crisis febriles al mismo tiempo debería tenerse en cuenta la posible infección por este agente. Establecer una etiología podría ser tranquilizador para los padres (AU)

The prevalence of febrile seizures is high in the paediatric population, and seizures are a frequent reason for emergency department (ED) visits, and a significant source of anxiety in caregivers. Their aetiology is multifactorial, and family aggregation has been described (as many as 25-40% of children with febrile seizures have a positive family history). However, this is the first time that febrile seizures have been described as occurring in siblings at the same time with identification of the same etiological agent.We present the cases of 2 pairs of twins, aged 23 months and 33 months, respectively, who presented at the ED with simple febrile seizures in both twins at the same time. The physical and neurological examination were normal in all of them. Polymerase chain reaction tests for enterovirus in pharyngeal and/or rectal swabs were positive. All of the patients recovered fully and were discharged home without requiring further diagnostic tests.In recent years, there has been a growing awareness of the important role of enterovirus infection in seizures. Therefore, enterovirus infection should be considered in the case of siblings presenting with febrile seizures at the same time. Establishing the aetiology of seizures may be reassuring to parents. (AU)

A Cyanotic Infant: Infrequent Presentation of Cow's Milk Protein Allergy.

We report the case of a three-month-old boy who presented with poor weight gain, loose stools, and poor oral intake for three weeks. Physical examination revealed a pale infant with abdominal distension and cyanosis. Oxygen saturation was normal, but the laboratory showed important methemoglobinemia. The diagnosis of FPIES (food protein-induced enterocolitis syndrome) in the context of cow's milk protein allergy (CMPA) was suspected. Although CMPA is a common condition encountered in small children, chronic forms of FPIES can be difficult to diagnose. Maintaining clinical suspicion about the potential association between methemoglobinemia and gastrointestinal symptoms can lead to prompt recognition and intervention.

Pharmacokinetic variability of eslicarbazepine in real clinical practice.

INTRODUCTION: Eslicarbazepine acetate (ESL) is a sodium channel blocker indicated for partial-onset seizures with or without secondary generalization, at a single daily dose. There are very few publications on the levels of ESL metabolites in real clinical practice. OBJECTIVE: To describe the serum levels of licarbazepine (main metabolite of ESL) in patients with refractory epilepsy in real clinical practice. To evaluate the influence of age, sex, and polytherapy on levels and adverse effects. METHODS: This study involved a retrospective analysis of patients diagnosed with epilepsy treated with ESL for whom plasma levels of licarbazepine were available, measured by spectrophotometry. RESULTS: Sixty-four patients were included. One patient had licarbazepine levels of 0 (admitted not taking the drug) was not analyzed. Mean licarbazepine levels of 7.66 µg/mL (400 mg/day dose), 16.56 µg/mL (800-mg dose), and 20.80 µg/mL (1200 mg) were significantly different. There was a significant correlation between daily dose and serum levels (p < 0.05) and between the concentration/dose ratio and lower to higher doses (p < 0.05). Pharmacokinetic variability (coefficient of variation for the concentration/dose ratio) was 33.2%. We found a decrease in the concentration/dose ratio in the 1200 mg/day dose, compared to lower doses. We did not find differences by sex or intake of other antiepileptic inducers or metabolic inhibitors. Fifteen patients (23.8%) had mild nonsymptomatic hyponatremia. CONCLUSION: These results suggest that it is not necessary to routinely determine licarbazepine levels. In specific cases, licarbazepine levels can be useful to assess adherence to treatment and for personalized dose adjustment.