RESUMO
In infants and children, bacterial meningitis caused by anaerobic bacteria is rare. However, a serious infection with the anaerobe Fusobacterium necrophorum can occur in previously healthy children with a peak incidence in preschool children and in adolescents. As the clinical presentation can be very similar to meningitis caused by aerobic bacteria, one should consider Fusobacterium necrophorum as the causative agent when preceded by or associated with otitis media with purulent otorrhea or mastoiditis, in combination with minimal or no improvement on empiric antibiotic treatment. As this pathogen can be difficult to culture, anaerobic cultures should be obtained. Prompt treatment with a third-generation cephalosporin and metronidazole should be initiated once suspected or confirmed. Surgical source control is often necessary, but even with adequate and prompt treatment, the morbidity and mortality in children with a Fusobacterium necrophorum meningitis remains high. In this report, we describe a case of Fusobacterium necrophorum meningitis in a previously healthy child and review the available literature.
RESUMO
BACKGROUND: Self-limited (familial) infantile epilepsy (S(F)IE), formerly known as benign (familial) infantile convulsions (B(F)IC), is an infantile cluster epilepsy with in rule a complete recovery. This form of epilepsy is most often caused by variations in the PRRT2 gene (OMIM #605751). AIM: To describe the clinical and genetic spectrum of sudden onset clusters of focal seizures in infancy. METHODS: We retrospectively reviewed all individuals, who presented with unprovoked infantile seizures and selected all infants who had unprovoked clustered focal seizures between 1 and 20 months of age. We described the clinical and genetic spectrum of this cohort. RESULTS: The data of 23 patients from 21 families were collected. All had an initial diagnosis of S(F)IE which was adjusted in 5 individuals. In 12 individuals a pathogenic variation in PRRT2 gene or complete deletion was identified. Pathogenic variants in PCDH19 and KCNQ2 were found in respectively 3 and 1 individuals. One individual had a non-pathogenic variant in ATP1A3 and in 6 others no variants were identified. The mean cluster duration was 2.9 days (range 1-13) (see Table 1). Twelve infants had only one cluster. All patients had focal motor or non-motor seizures, in 12 (52%) followed by bilateral (tonic)clonic seizures. Positive family history was present in 74% of individuals. In 11/12 (92%) tested families, ≥1 family member carried the pathogenic PRRT2 variant. Age of seizure onset (ASO) averaged 6.2 months (range 2-20 months). Age of latest seizure averaged 16 months (range 2-92). In several interictal EEG (electroencephalogram) recordings multifocal spikes or spike-wave abnormalities were detected. Ictal EEG recordings detected primary focal abnormalities. CONCLUSION: We described 23 individuals with unprovoked cluster(s) of focal seizures at infancy. It appears to be a heterogeneous group. Half of them had a pathogenic variation in PRRT2 gene. Most had only one cluster of seizures. When clusters reoccur frequently, when seizures are more therapy-resistant and when seizures persist beyond the age of 2 years, another diagnosis or causative gene is likely.