PURPOSE: External trigeminal nerve stimulation is an emerging noninvasive therapy for drug resistant epilepsy (DRE). The aim of this study is to describe the long-term outcome of a series of patients treated with eTNS. METHODS: We present a retrospective observational study of patients with DRE who received eTNS treatment, comparing the monthly seizure frequency during the 3-months period before eTNS initiation with the monthly seizure frequency at 6, 12, 24, 36 and 48 months after eTNS. We analyze the responder rate, the retention rate and the tolerability. RESULTS: 17 patients with highly drug-resistant epilepsy were included. Mean follow-up was 2194 [6-56] months. The responder rate was 35% at 6 months and 12 months, 23% at 24 months, 19% at 36 months, and 14% at 48 months. Retention rates at the same periods were 88%, 53%, 41%, 37.5% and 28.5%. There were no reports of serious adverse events. Four patients reported improvement in sleep and better mood. CONCLUSION: The effectivity of eTNS is similar to some of the new treatments available, with a retention rate of 52% in the first year and 285% at 4 years. Tolerability is excellent with only mild effects reported by a minority of patients.
Drug Resistant Epilepsy/therapy , Electric Stimulation Therapy , Adolescent , Adult , Child , Drug Resistant Epilepsy/complications , Electric Stimulation Therapy/methods , Follow-Up Studies , Humans , Middle Aged , Patient Compliance , Retrospective Studies , Seizures/etiology , Seizures/therapy , Treatment Outcome , Trigeminal Nerve , Young Adult
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel). Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5%) analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1). Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.
Developmental Disabilities/diagnosis , Epilepsy/diagnosis , Genetic Predisposition to Disease , Child, Preschool , Developmental Disabilities/genetics , Epilepsy/genetics , Female , Humans , Infant, Newborn , Male
Describimos un caso inusual de mielolipoma extradrenal, probablemente el primer caso aportado en la literatura de localización específicamente esplénica. Se trata de un paciente varón de 45 años con masa esplénica descubierta a raíz de un examen físico rutinario asociado únicamente a una trombocitopenia. El estudio por imagen, ecografía y tomografía axial computarizada, y la histología mostró un mielolipoma típico de localización intraesplénica. El diagnóstico diferencial se realizó principalmente con el lipoma, liposarcoma metastásico y con los tumores extramedulares hematopoyéticos. La histogénesis de los mielolipomas es desconocida. Nosotros creemos que las células de origen del mielolipoma esplénico podrían proceder de células coristomatosas hematopoyéticas del interior del bazo. Después de la esplenectomía el paciente continua asintomático y sin trombocitopenia
A rare case of extra-adrenal myelolipoma (probably the first case of splenic localization of this type of tumor documented in the literature) is reported. It corresponds to a 45 year-old caucasian man with an asymptomatic splenic mass (only associated to thrombocytopenia) and discovered by physical examination. Splenic ultrasound imaging and CT scanning, as well as gross and microscopic features were similar to conventional adrenal myelolipomas. The main differential diagnoses to be considered include lipomas, metastasic liposarcoma, and extramedullary hematopoietic tumors. The histogenesis of myelolipomas is not fully understood. We believe that cells originating splenic myelolipoma could have arisen from choristomatous hematopoietic cells within the spleen. After of the splenectomy the patient became asymptomatic and showed no evidence of thrombocytopenia
Male , Middle Aged , Humans , Myelolipoma/diagnosis , Myelolipoma/pathology , Myelolipoma/surgery , Tomography, X-Ray Computed/methods , Immunohistochemistry , Splenic Neoplasms/diagnosis , Splenic Neoplasms/pathology , Splenic Neoplasms/surgery , Thrombocytopenia/complications , Diagnosis, Differential , Cytodiagnosis/methods
Describimos un caso inusual de mielolipoma extradrenal, probablemente el primer caso aportadoen la literatura de localización específicamente esplénica. Se trata de un paciente varón de45 años con masa esplénica descubierta a raíz de un examen físico rutinario asociado únicamentea una trombocitopenia. El estudio por imagen, ecografía y tomografía axial computarizada,y la histología mostró un mielolipoma típico de localización intraesplénica. El diagnósticodiferencial se realizó principalmente con el lipoma, liposarcoma metastásico y con los tumoresextramedulares hematopoyéticos.La histogénesis de los mielolipomas es desconocida. Nosotros creemos que las células deorigen del mielolipoma esplénico podrían proceder de células coristomatosas hematopoyéticasdel interior del bazo. Después de la esplenectomía el paciente continua asintomático y sin trombocitopenia
A rare case of extra-adrenal myelolipoma (probably the first case of splenic localization of thistype of tumor documented in the literature) is reported. It corresponds to a 45 year-old caucasianman with an asymptomatic splenic mass (only associated to thrombocytopenia) and discovered byphysical examination. Splenic ultrasound imaging and CT scanning, as well as gross and microscopicfeatures were similar to conventional adrenal myelolipomas. The main differential diagnoses tobe considered include lipomas, metastasic liposarcoma, and extramedullary hematopoietic tumors.The histogenesis of myelolipomas is not fully understood. We believe that cells originatingsplenic myelolipoma could have arisen from choristomatous hematopoietic cells within the spleen.After of the splenectomy the patient became asymptomatic and showed no evidence ofthrombocytopenia
Male , Middle Aged , Humans , Myelolipoma/pathology , Splenic Neoplasms/pathology , Splenectomy
