Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.

Epilepsy surgery may be a curative therapy for patients with drug-resistant epilepsies when focal lesions or foci are identified. Genetic testing is not yet routinely included in many presurgical evaluation programs although recent evidence support that finding a germline genetic mutation could help to better delineate the patient candidacy to surgery and provide valuable information on the expected surgery outcome. In this study, we report nine patients presenting drug-resistant focal epilepsy enrolled in presurgical evaluation. We show how the identification of genetic pathogenic variant in epilepsy known genes led to the interruption of the presurgical work-up and ruled out surgery in 7 of them. We observed that the co-existence of some recurrent clinical characteristics as early seizures' onset, frequent precipitating factors including fever, and developmental delay or intellectual disability may be useful markers for germline genetic pathogenic variants. In this group, genetic assessment should be mandatory during presurgical work up, mainly in patients with negative magnetic resonance imaging (MRI) or doubtful structural lesions. The integration of next generation targeted sequencing into the presurgical evaluation can improve the selection of candidates for resective surgery and fosters a personalized medicine approach with a better outcome. PLAINE LANGUAGE ABSTRACT: Genetic testing is not yet systematically included in the pre-surgical assessment of patients with drug-resistant focal epilepsies. In this study, through the description of nine patients, we underline how the integration of genomics into the presurgical work up can help in evaluating the patient candidacy to surgery and provide valuable information on expected surgery outcome.

Liquen estriado. Presentación de un caso clínico y revisión de la literatura médica / Lichen striatus: a case report and review of medical literature

El liquen estriado es una genodermatosis inflamatoria lineal de carácter benigno que suele ser autolimitada. Habitualmente se presenta en la edad preescolar y es más frecuente en el sexo femenino. Clínicamente se caracteriza por pápulas de 2 a 4 mm de diámetro que forman bandas siguiendo las líneas de Blaschko. Suelen ser lesiones únicas y unilaterales. Afecta generalmente a las extremidades. El diagnóstico suele ser clínico y no requiere pruebas complementarias. Presentamos el caso de una niña de seis años con una lesión lineal en la extremidad inferior formada por pápulas rosadas que siguen las líneas de Blaschko y se extienden desde el maléolo interno al muslo, sin antecedente traumáticos. No existen otros antecedentes patológicos de interés. Ante este tipo de lesiones se debe realizar el diagnóstico diferencial con las patologías que siguen las líneas de Blaschko como nevus epidérmico verrucoso lineal, incontinencia pigmenti, enfermedad de Darier lineal, poroqueratosis lineal e hipomelanosis de Ito, entre otras, aunque la morfología es muy típica y en los casos de lesiones únicas, en niñas, lineales y en extremidades inferiores no ofrece grandes problemas diagnósticos

Lichen striatus is a linear self-limited inflammatory genodermatosis. It mostly affects preschoolers, more often in females. It is characterized by pagues of 2-4 mm organized in linear bands following the lines of Blaschko. These findings are usually unique and unilateral, affecting principally extremities. The diagnosis is clinical, no requiring complementary tests. We present the case of a six-year-old girl with a linear lesion consisting in pink papules following the Blaschko's lines, starting in the internal malleolus of the lower extremity and spreading to the thigh. No history of traumatic event at that level. No other pathological background of interest. Comments: the differential diagnosis of lichen striatus includes other dermatoses that follow the Blaschko lines such as inflammatory linear verrucous epidermal naevus, incontinentia pigmenti, linear Darier's disease, linear porokeratosis, or hypomelanosis of Ito. The morphology of the lesions is characteristic, so cases of single lesions, linear, in lower extremities and in girls should not offer great diagnostic problems

¿Cuál es la prevalencia real del trastorno por déficit de atención con o sin hiperactividad? / No disponible

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