Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.

Episodic ataxia type 1 (EA1), a Shaker-like K+channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1. Generally, KCNA1 mutations are inherited in an autosomal dominant manner. Here we report the clinical phenotype of an EA1 patient characterized by ataxia attacks that decrease in frequency with age, and eventually leading to therapy discontinuation. A new de novo mutation (c.932G>A) that changed a highly conserved glycine residue into an aspartate (p.G311D) was identified by using targeted next-generation sequencing. The conserved glycine is located in the S4-S5 linker, a crucial domain controlling Kv1.1 channel gating. In silico analyses predicted the mutation deleterious. Heterologous expression of the mutant (Kv1.1-G311D) channels resulted in remarkably decreased amplitudes of measured current, confirming the identified variant is pathogenic. Collectively, these findings corroborate the notion that EA1 also results from de novo variants and point out that regardless of the mutation-induced deleterious loss of Kv1.1 channel function the ataxia phenotype may improve spontaneously.

Resultados de la resonancia magnética nuclear de cerebro en niños con cefalea / Brain magnetic resonance imaging findings in children with headache

Introducción: El objetivo fue describir los resultados de la resonancia magnética nuclear (RMN) en niños con cefalea. Población y métodos: Revisión retrospectiva de las historias clínicas de los pacientes ingresados a los consultorios externos de neurología pediátrica con síntomas de cefalea entre enero de 2013 y diciembre de 2014. Resultados: Se ingresaron 478 pacientes (273 mujeres, 205 varones) con síntomas de cefalea. Los tipos de cefalea fueron migraña en 218 pacientes (45, 6%), cefalea tensional en 159 (33, 3%), cefalea secundaria en 39 (8, 2%) y cefalea inespecífica en 62 (13%). Se realizó una RMN de cerebro a 407 pacientes (85%); se observaron anomalías cerebrales en 128 pacientes (31, 4%); cinco tenían anomalías cerebrales relevantes para cefalea, incluso tumores. Entre los otros 123 pacientes, los hallazgos casuales más frecuentes correspondieron a 42 casos (10%) de anomalías inespecíficas de la sustancia blanca, 17 casos (4%) de espacios perivasculares agrandados, 17 casos (4%) de quiste aracnoideo, 16 casos (3, 9%) de ventrículos asimétricos, 12 casos (2, 9%) de malformación de Chiari tipo 1 y ectopia amigdalina cerebelosa. Asimismo, 17 pacientes (4, 1%) tenían anomalías extracerebrales en la RMN, entre otras, sinusitis, engrosamiento de la mucosa y quistes de retención de los senos paranasales. Conclusiones: A pesar del incremento en la realización de estudios de neuroimagenología, la contribución de la RMN de cerebro al diagnóstico y el tratamiento de los niños con cefalea es aún baja.

Introduction. The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache. Population and methods. Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014. Results. A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache. The types of headache were migraine in 218 (45.6%), tension-type in 159 (33.3%), secondary in 39 (8.2%) and unspecified headaches in 62 (13%) patients. Brain MRI was performed in 407 (85%) patients and revealed cerebral abnormalities in 128 (31.4%) patients; 5 patients had cerebral abnormalities relevant with headache, including tumors. Amongst the others 123 patients, the most common findings were 42 cases (10%) of nonspecific white matter abnormalities, 17 cases (4%) of enlarged perivascular spaces, 17 cases (4%) of arachnoid cyst, 16 cases (3.9%) of asymmetric ventricles, 12 cases (2.9%) with Chiari type I and cerebellar tonsillar ectopia. Also, 17 (4.1%) patients had extra-cerebral MRI abnormalities including sinusitis, mucosal thickening and retention cysts of sinuses. Conclusions. In this study, the contribution of brain MRI in the diagnosis and management of the children with headache was still low.

Brain magnetic resonance imaging findings in children with headache. / Resultados de la resonancia magnética nuclear de cerebro en niños con cefalea.

INTRODUCTION: The aim was to describe the findings on magnetic resonance imaging (MRI) in children with headache. POPULATION AND METHODS: Retrospective review of the medical records of patients who were admitted to our pediatric outpatient neurology clinics with the complaint of headache between January 2013 and December 2014. RESULTS: A total of 478 patients (273 female, 205 male) were admitted with the complaint of headache. The types of headache were migraine in 218 (45.6%), tension-type in 159 (33.3%), secondary in 39 (8.2%) and unspecified headaches in 62 (13%) patients. Brain MRI was performed in 407 (85%) patients and revealed cerebral abnormalities in 128 (31.4%) patients; 5 patients had cerebral abnormalities relevant with headache, including tumors. Amongst the others 123 patients, the most common findings were 42 cases (10%) of nonspecific white matter abnormalities, 17 cases (4%) of enlarged perivascular spaces, 17 cases (4%) of arachnoid cyst, 16 cases (3.9%) of asymmetric ventricles, 12 cases (2.9%) with Chiari type I and cerebellar tonsillar ectopia. Also, 17 (4.1%) patients had extra-cerebral MRI abnormalities including sinusitis, mucosal thickening and retention cysts of sinuses. CONCLUSIONS: In this study, the contribution of brain MRI in the diagnosis and management of the children with headache was still low.

INTRODUCCIÓN: El objetivo fue describir los resultados de la resonancia magnética nuclear (RMN) en niños con cefalea. POBLACIÓN Y MÉTODOS: Revisión retrospectiva de las historias clínicas de los pacientes ingresados a los consultorios externos de neurología pediátrica con síntomas de cefalea entre enero de 2013 y diciembre de 2014. RESULTADOS: Se ingresaron 478 pacientes (273 mujeres, 205 varones) con síntomas de cefalea. Los tipos de cefalea fueron migraña en 218 pacientes (45,6%), cefalea tensional en 159 (33,3%), cefalea secundaria en 39 (8,2%) y cefalea inespecífica en 62 (13%). Se realizó una RMN de cerebro a 407 pacientes (85%); se observaron anomalías cerebrales en 128 pacientes (31,4%); cinco tenían anomalías cerebrales relevantes para cefalea, incluso tumores. Entre los otros 123 pacientes, los hallazgos casuales más frecuentes correspondieron a 42 casos (10%) de anomalías inespecíficas de la sustancia blanca, 17 casos (4%) de espacios perivasculares agrandados, 17 casos (4%) de quiste aracnoideo, 16 casos (3,9%) de ventrículos asimétricos, 12 casos (2,9%) de malformación de Chiari tipo 1 y ectopia amigdalina cerebelosa. Asimismo, 17 pacientes (4,1%) tenían anomalías extracerebrales en la RMN, entre otras, sinusitis, engrosamiento de la mucosa y quistes de retención de los senos paranasales. CONCLUSIONES: A pesar del incremento en la realización de estudios de neuroimagenología, la contribución de la RMN de cerebro al diagnóstico y el tratamiento de los niños con cefalea es aún baja.

Predictors of recurrence in Sydenham's chorea: Clinical observation from a single center.

OBJECTIVE: Sydenham's chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite being known as a benign, self-limiting condition, recurrences and persistence of symptoms can be seen. In this study, we aimed to evaluate retrospectively the clinical and laboratory features of patients with Sydenham's chorea and the rate and the course of recurrences, and to assess the risk of recurrences. METHODS: The study was a retrospective study conducted in a tertiary hospital. Patients with Sydenham's chorea who were admitted to our outpatient clinics between January 2013 and June 2015 were included. Both newly diagnosed and follow-up patients were enrolled during this period. We retrospectively reviewed the medical charts of the patients. RESULTS: There were 90 patients with female predominance. The mean age of onset was 11±2.4years. Complete remission was maintained in 77 patients (85.6%) at 1-6months and 4 patients had symptoms at more than 12months. Patients were followed for 6months to 9years. The recurrence rate was 16%. When we compared recurrent patients with the non-recurrent group, complete remission in 6months, the presence of persistent chorea, and regular use of prophylaxis were significantly different between the 2 groups. CONCLUSIONS: Sydenham's chorea is still an important health problem and has high morbidity in patients with recurrent and persistent chorea. The irregular usage of antibiotic prophylaxis, failure to achieve remission within 6months, and prolongation of symptoms for more than 1year are risk factors for recurrence of chorea.