Ischaemic stroke in children with cardiopathy: An epidemiological study. / Ictus isquémico en niños con cardiopatía: estudio epidemiológico.

INTRODUCTION: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. PATIENTS AND METHODS: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014. RESULTS: We included 74 children with heart disease who were eligible for inclusion. 60% were boys with a mean stroke age of 11 months. 20% of the patients died during the study period. 90% of the patients had a congenital heart disease, while cyanotic heart disease was identified in 60%. Hypoplastic left heart syndrome was the most frequent heart disease. In 70% of patients AIS was directly associated with heart surgery, catheterisation or ventricular assist devices. Most patients with AIS were in the hospital. Seizures and motor deficit were the most frequent symptoms. Most patient diagnoses were confirmed by brain CT. The AIS consisted of multiple infarcts in 33% of the cases, affected both hemispheres in 27%, and involved the anterior and posterior cerebral circulation in 10%. CONCLUSIONS: Arterial ischaemic strokes were mainly associated with complex congenital heart diseases, and heart procedures and surgery (catheterisation). AIS presented when patients were in-hospital and most of the patients were diagnosed in the first 24hours.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P = .04) and 10 had neurological impairment (P = .008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P < .001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values > 2 were correlated with psychomotor retardation (P < .001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome. / Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. AIM: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population. PATIENTS AND METHODS: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. RESULTS: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01). CONCLUSION: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.

TITLE: Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.Introducción. El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos. Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (CandA-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos. Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados. Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la CandA-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p menor de 0,01). La gravedad de los tics se relacionó con una peor calidad de vida (PedsQL, R2: ­0,707; p menor de 0,01; y CandA-GTS-QOL, R2: ­0,501; p = 0,021). Una mayor puntuación la escala de Conners revisada para el TDAH se relacionó con peor calidad de vida (PedsQL, R2: ­0,463; p = 0,03; y CandA-GTS-QOL, R2: ­0,534; p menor de 0,01). Conclusión. La prevalencia de comorbilidades psiquiátricas en el síndrome de Gilles de la Tourette en nuestro medio es alta y frecuentemente infradiagnosticada. Los tics y las comorbilidades psiquiátricas afectan a la calidad de vida. Son necesarios estudios que validen la CandA-GTS-QOL.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection. / Asociación entre neuroimagen y secuelas neurológicas en pacientes con infección congénita por citomegalovirus.

BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values >2 were correlated with psychomotor retardation (P<.001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.

Asociación entre neuroimagen y secuelas neurológicas en pacientes con infección congénita por citomegalovirus / Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus (CMV) supone una importante causa de discapacidad. Existen escasas evidencias acerca del valor pronóstico de las lesiones presentes en los estudios de neuroimagen. Objetivo: Analizar la gravedad de las lesiones en la resonancia magnética (RM) y la ecografía transfontanelar, y su relación con déficits neurológicos a largo plazo. Pacientes y métodos: Se realizó un estudio observacional analítico retrospectivo de 36 pacientes con infección congénita por CMV. Se revisaron los estudios de neuroimagen y se clasificaron según la escala de Noyola et al. modificada. Se relacionaron los hallazgos de neuroimagen con la afectación neurológica en su última visita en la consulta de neuropediatría. Resultados: Un total de 36 pacientes fueron estudiados, habiéndose realizado ecografía transfontanelar en 30 y RM cerebral en 29. La ecografía transfontanelar estuvo alterada en 20/30 pacientes, de los cuales, 11 tuvieron alteración en la RM (p = 0,04) y 10 afectación neurológica (p = 0,008). Tuvo una sensibilidad del 83,3%, IC 90%: 58-100 y una especificidad del 44,4%, IC 90%: 18,7-70,2 para la predicción de secuelas neurológicas. La RM estuvo alterada en 20/29 pacientes. Dieciséis de ellos tuvieron afectación neurológica (p < 0,001), teniendo una sensibilidad del 94%, IC 95%: 80-100 y una especificidad del 66,6%, IC 95%: 36-97,5 para la predicción de secuelas neurológicas. Una escala de Noyola et al. ≥ 2 se asoció a retraso psicomotor (p < 0,001). Conclusión: Nuestro trabajo valida los estudios previos en los que se encuentra correlación estadísticamente significativa entre la extensión de las lesiones en neuroimagen y la gravedad de los déficits neurológicos. (AU)

Background: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. Aim: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. Patients and methods: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola’ scale. Imaging findings were compared with neurological alterations in the patients’ most recent follow-up evaluation at the paediatric neurology department. Results: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola’ scale values >2 were correlated with psychomotor retardation (P<.001). Conclusions: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits. (AU)

Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette / Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome

Introducción: El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos: Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (C&A-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos: Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados: Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la C&A-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p < 0,01)...(AU)

Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire C&A-GTS-QoL to measure quality of life in this population. Patients and methods: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. Results: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for C&A-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: –0.732, p <0.01, C&A-GTS-QoL R2: –0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: –0.463, p = 0.03, C&A-GTS-QoL R2-0.534, p < 0.01). Conclusion: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of C&A-GTS-QoL scale.(AU)

[Visuospatial functions and prematurity]. / Funciones visuoespaciales y prematuridad.

Visuospatial functions are very important in learning process and development of abstract thought during childhood. Several studies show that preterm and low birth weight infants obtain lower scores in test that assess cognitive functions, specially in the first year of life. These differences are attenuated over time, but a developmental delay that affects working memory and visuospatial process still persists. It is unclear what factors are involved in development of these functions, and pre- or perinatal factors may interfere with the proper conduct of the same, but have been described anatomical and physiological differences between the preterm and term brain that could explain somewhere in these alterations. The different selective vulnerability to hypoxia between immature brain in which preoligodendrocytes and subplate neurons predominate, and mature brain, determine differences in the pattern of injury from hypoxia with greater involvement of the periventricular white matter in preterm children. This lesional pattern leaves to a dysfunction in attentional and visuospatial process, due to the increased vulnerability of the regions involved in the dorsal pathway of visual processing.

TITLE: Funciones visuoespaciales y prematuridad.Durante la infancia, las funciones visuoespaciales son importantes en los procesos de aprendizaje y en el desarrollo del pensamiento abstracto. Diferentes estudios muestran que los niños prematuros o con bajo peso al nacer obtienen menores puntuaciones en los tests que valoran las funciones cognitivas, siendo estas diferencias mas pronunciadas durante el primer año de vida. Con el tiempo, estas diferencias se van atenuando, pero persiste un retraso madurativo que afecta a la memoria de trabajo y a los procesos visuoespaciales. No esta claro cuales son los factores implicados en el desarrollo de estas funciones y que factores pre o perinatales pueden interferir en su buen desarrollo, pero se han descrito diferencias anatomicas y fisiologicas entre el cerebro del niño pretermino y el termino que podrian explicar, en parte, alguna de estas alteraciones. La diferente vulnerabilidad selectiva a la hipoxia entre el cerebro inmaduro, en el que predominan las neuronas de la subplaca y los preoligodendrocitos, y el cerebro maduro del niño nacido a termino determinan diferencias en el patron de lesion por hipoxia con mayor afectacion de la sustancia blanca periventricular en el niño pretermino. Este patron lesional conlleva una disfuncion en los procesos atencionales y visuoespaciales debido a la mayor vulnerabilidad de las regiones que intervienen en la ruta dorsal del procesamiento visual.

Ictus isquémico en niños con cardiopatía: estudio epidemiológico / Ischaemic stroke in children with cardiopathy: An epidemiological study

Introducción: Los ictus isquémicos son poco frecuentes en la infancia. Las cardiopatías tanto congénitas como adquiridas son uno de los factores de riesgo más importante para presentar un ictus en la edad pediátrica. Pacientes y métodos: Estudio retrospectivo descriptivo de niños con cardiopatía diagnosticados de ictus arterial isquémico entre enero del 2000 y diciembre del 2014. Resultados: Cumplieron los criterios de inclusión 74 pacientes, el 60% varones. La mediana de edad del ictus fue de 11 meses. Fallecieron un 20% de los pacientes. La cardiopatía era congénita en un 90%, cianógena en un 60%. El ventrículo izquierdo hipoplásico fue la cardiopatía más frecuente. El ictus estuvo relacionado temporalmente con una cirugía cardiaca, cateterismo o asistencia ventricular en el 70% de los casos. La mayoría de los ictus ocurrieron en el hospital. La forma de presentación más frecuente fue el déficit motor y las convulsiones. El diagnóstico se realizó mediante TC craneal en la mayoría de los casos. El ictus fue múltiple en el 33% de los casos y bihemisférico en el 27%, y afectaba a la circulación anterior y posterior cerebral en el 10%. En un 10% de los casos se produjo una recurrencia del ictus. Conclusiones: Las cardiopatías congénitas complejas y las intervenciones cardiacas, la cirugía y los cateterismos fueron los principales factores asociados con el ictus isquémico. El ictus se produjo en pacientes hospitalizados y el diagnóstico se realizó en las primeras 24 h en la mayoría de los pacientes (AU)

Introduction: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. Patients and methods: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014. Results:We included 74 children with heart disease who were eligible for inclusion. 60% were boys with a mean stroke age of 11 months. 20% of the patients died during the study period. 90% of the patients had a congenital heart disease, while cyanotic heart disease was identified in 60%. Hypoplastic left heart syndrome was the most frequent heart disease. In 70% of patients AIS was directly associated with heart surgery, catheterisation or ventricular assist devices. Most patients with AIS were in the hospital. Seizures and motor deficit were the most frequent symptoms. Most patient diagnoses were confirmed by brain CT. The AIS consisted of multiple infarcts in 33% of the cases, affected both hemispheres in 27%, and involved the anterior and posterior cerebral circulation in 10%. Conclusions: Arterial ischaemic strokes were mainly associated with complex congenital heart diseases, and heart procedures and surgery (catheterisation). AIS presented when patients were in-hospital and most of the patients were diagnosed in the first 24hours (AU)

[Early stimulation in newborns with birth weight between 1,000 and 1,500 g: is it always necessary?]. / Estimulación precoz en los recién nacidos con peso al nacer entre 1.000 y 1.500g. ¿Es siempre necesaria?

OBJECTIVE: To determine whether the currently widespread practice of sending all premature infants with birth weight between 1,000 and 1,500 g to early care centres is necessary from a neurological point of view, or if it is possible to establish selection criteria. MATERIAL AND METHODS: A retrospective study of newborns (NB) at our hospital between January 1998 and December 2004 with birth weight between 1,000 and 1,500 g, and followed up for at least two years in a paediatric neurology clinic. We analysed the prognostic significance of the different neurological variables in the neonatal period, and those of greater significance were set at a score for deciding the start of early stimulation treatment on discharge from neonatology. RESULTS: A total of 194 infants met the above criteria. The most significant neurological prognostic variables were: gestational age < 28 weeks, male sex, intraventricular haemorrhage grade > I, history of high risk pregnancy, sepsis, anaemia with haemodynamic repercussion and fundamentally abnormal neurological examination at discharge (odds ratio of 16). A prognostic score was developed with a cut-off of 4 points, with an area under the curve of 88.3%. The positive predictive value and negative predictive value were 43.75% and 96.2%, respectively, with 84.8% sensitivity and 78.9% specificity. CONCLUSIONS: The newborns with birth weight between 1,000 and 1,500 g and normal neurological examination at discharge, with a score of less than 4 points, do not require early stimulation treatment from a neurological standpoint, given its predictable good outcome.

Memoria de la Sección de Neuropediatría del Hospital General Universitario Gregorio Marañón / Report of the Neuropediatric section of the Hospital General Universitario Gregorio Marañón

La Neuropediatría es una de las especialidades pediátricas que más demanda genera. En el Hospital General Universitario Gregorio Marañón la Sección de Neuropediatria está compuesta por 4 médicos adjuntos, tres trabajando al 100% en la Sección y uno al 75%. En este artículo se expone la actividad asistencial en consultas externas e interconsultas de hospitalización así como la relación con otras especialidades. Se describe también nuestra cartera de servicios, haciendo énfasis en que somos Centro de Referencia nacional en ictus pediátrico y Centro, Servicio y Unidad de Referencia del Sistema Nacional de Salud (CSUR) en trastornos del movimiento. Por último, se reseña el importante empuje que ha tenido nuestra Sección en los últimos años en los aspectos docente e investigador (AU)

Pediatric Neurology is the pediatric speciality with more request for assitance. In our hospital, Pediatric Neurology unit is composed of four assistant doctors. Three of them have a full employment contract and the other a 75% contract. In this article it is exposed the healthcare activity in both outpatient consultations and in pediatric neurology hospitalization, as well as the relationship with other pediatric specialities. Also it has been described our medical portfolio, highlighting we are a national reference center for pediatric stroke and a national reference center for movement disorders (CSUR). Finally, it has been reported the great growth that our section has experienced in recent years specially in the academic and research fields (AU)

[Cerebral polymicrogyria and 22q11 deletion syndrome]. / Polimicrogiria cerebral y síndrome de deleción 22q11.

INTRODUCTION: Chromosome 22q11 microdeletion syndrome, DiGeorge syndrome or CATCH 22 spectrum, is characterised by conotruncal heart malformations, facial dysmorphisms, cleft palate, velopharyngeal insufficiency, transient hypocalcemia and T cell disorders. Furthermore, a significant number of patients may present autism-type developmental disorders, learning disabilities, attention deficit hyperactivity disorder or schizophrenia-like psychiatric problems. CASE REPORT: A girl with congenital heart disease that had been treated surgically in the neonatal period, who presented psychomotor retardation, dysmorphic features and microcephaly. The conventional karyotype study that was performed at birth was normal. The physical examination revealed subtle signs of left hemiparesis. A neuroimaging study showed polymicrogyria-type cortical dysplasia that involved the right frontotemporal cortex. A chromosomal study was conducted and findings showed a 22q11.2 chromosome deletion. CONCLUSIONS: Brain malformations in children with deletion of the 22q11.2 chromosome have been reported previously, but their real prevalence and the most frequent type of malformation have not been properly determined. The authors conclude that brain malformations should be studied in all patients with 22q11.2 deletion and it should be borne in mind that all patients with cortical dysplasias may present this deletion.

[Arterial ischaemic stroke in children with cardiac diseases]. / Ictus arteriales isquémicos en niños con cardiopatías.

INTRODUCTION: The incidence of cerebral stroke in children has significantly increased in last years. Heart diseases are one of the best known risk factors in pediatric stroke. AIM. To describe the characteristics of the cerebral stroke in children with heart diseases, emphasizing in predisposing conditions, time to diagnosis, management and follow-up of patients. PATIENTS AND METHODS: We performed a retrospective study in children suffering from heart diseases with cerebral stroke admitted to our hospital that comprised 10 years. Type of cardiopathy, associated factors like surgery or catheterization, study of thrombophilia, clinical findings, methods and time to diagnosis, primary and secondary prophylaxis, treatment and long-term neurologic outcome were analyzed. RESULTS: Twenty patients were included in our study (age: from neonatal period to 15 years), eighteen of them were children with congenital cardiac disease. Eleven patients had antecedent of surgery and/or catheterism in the previous month. The most common clinical presentation was focal seizures. Time from clinical onset to diagnosis of stroke was longer than 24 hours in 60% of our patients. Fifty per cent of our patients did not receive any primary prophylaxis. Treatment was initiated in 70% of patients, but no one received thrombolysis. CONCLUSIONS: It is crucial to consider stroke when children with heart diseases show any neurologic symptom. Optimal diagnostic strategies must be established to low the delay of diagnosis in these patients, as well as randomised clinical trials in order to establish uniform guidelines in pediatric stroke.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)]. / Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.(a) revisión (CIE-9), 5.(a) edición (2006).

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.

[Mental evolution of 108 cases with craniosynostosis (author's transl)]. / Evolución mental de 108 casos con craneosinostosis.

A study of mental development of 108 patients with craniosynostosis is performed. A serious mental retardation was evident in the majority of patients with "clover leaf" and in those with acrocephalosyndactily types Appert and Chotzen, and also when they had trigonocephaly. Oxicephaly, Crouzon's disease, plagiocephaly and Carpenter's and Pfeiffer's diseases show usually a moderate and/or middle retardation. Scaphocephaly has a mental evolution with a normal I.Q., but probability for presenting perinatal hipoxia because the size and aspect of the head is high.

[Kinesic paroxysmal familial choreoathetosis: presentation of a case]. / Coreoatetosis paroxística cinesigénica familiar: presentación de un caso.

Report of a case of kinesic paroxysmal choreoathetosis in a family (as far as we know the first case of a family on record in Spanish) which responded very well to treatment with low doses of carbamazepine. The characteristics of this infrequent clinical entity are also discussed.