RESUMEN
AIM: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals may have a variety of epilepsy phenotypes, the most common being febrile seizures (FS) and febrile seizures plus (FS+). We investigated the possible contribution of copy number variation to GEFS+. METHOD: We searched our epilepsy research database for patients in GEFS + families who underwent chromosomal microarray analysis. We reviewed the clinical features and results of genetic testing in these families. RESULTS: Of twelve families with available microarray data, four had at least one copy number variant (CNV) identified. In Family 1, the proband had a maternally-inherited 15q11.2 deletion. In Family 5, four different CNVs were identified, variably present in the affected individuals; this included a 19p13.3 deletion affecting CACNA1A. Finally, in both Families 9 and 10, the proband had Dravet syndrome with pathogenic SCN1A variant, as well as a CNV (10q11.22 duplication in Family 9 and 22q11.2 deletion in Family 10). INTERPRETATION: The significance of these specific variants is difficult to precisely determine; however, there appeared to be an overrepresentation of CNVs in this small cohort. These findings suggest chromosomal microarray analysis could have clinical utility as part of the workup in GEFS + families.
Asunto(s)
Variaciones en el Número de Copia de ADN/genética , Predisposición Genética a la Enfermedad/genética , Convulsiones Febriles/genética , Canales de Calcio/genética , Niño , Aberraciones Cromosómicas , Femenino , Genotipo , Humanos , Masculino , Canal de Sodio Activado por Voltaje NAV1.1/genética , Fenotipo , SíndromeRESUMEN
We report a case of a 9-month-old baby admitted to the hospital because of low-grade fever, focal seizures in a context of watery diarrhea for 14 days' duration. The patient workup revealed a mild neutrophilic pleocytosis on cerebrospinal fluid (46 cells/microl), a positive stool culture for Salmonella pomona sensitive to ceftriaxone and ciprofloxacin, and a subdural empyema (SDE) on the cerebral MRI. The child received an intravenous third-generation cephalosporin for 4 weeks which resulted in cure. This case highlights an unusual extra-intestinal complication of non-typhoid salmonella infection. Involvement of the central nervous system with non-typhoidal salmonellosis is an important complication that can result in significant morbidity if not recognized and treated promptly. A focal intra-cranial infection must be considered in the differential diagnosis of any child presenting with focal seizures and gastroenteritis due to Salmonella. Appropriate diagnostic imaging of the head (cerebral CT scan with contrast and/or MRI) is mandatory to exclude the presence of an intra-cranial complication, even in the presence of negative CSF culture for Salmonella. Subfrontal and subtemporal SDE are sometimes missed on axial CT scans and better appreciated on MRI. Non-surgical treatment of small subdural empyemas with prolonged intravenous antibiotic therapy is a therapeutic option.
