Concordancia entre una función de crecimiento del perímetro cefálico y la discapacidad intelectual en relación con la etiología de la microcefalia / Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly

INTRODUCCIÓN: Nuestro objetivo fue investigar la correlación entre patrones de crecimiento cefálico y discapacidad intelectual entre distintas presentaciones etiológicas de microcefalia. PACIENTES Y MÉTODOS: Se revisaron 3.269 gráficas de perímetro cefálico (PC) de una unidad de neuropediatría terciaria, seleccionándose 136 participantes con microcefalia. Utilizando las puntuaciones Z de las medidas de PC registradas definimos las variables: PC mínimo, caída de PC y recuperación de PC. Los pacientes se clasificaron según la existencia o no de discapacidad intelectual (CI inferior a 71) y la causa de la microcefalia (idiopática, familiar, sindrómica, sintomática y mixta). RESULTADOS: El uso del análisis discriminante permitió definir una función C como C=PC mínimo + caída de PC con un nivel de corte de puntuación Z de C=-4,32. En nuestra muestra, el 95% de los pacientes con resultados por debajo de este nivel, microcefalia severa, presentaban discapacidad intelectual. La concordancia global entre la función de PC y la presencia de discapacidad intelectual fue del 66%. En el grupo de sintomáticas y mixtas, esta concordancia alcanzó el 82%, en contraste con solo el 54% del grupo de idiopáticas y sindrómicas (p = 0,0002). CONCLUSIONES: La utilización de una función de crecimiento del PC discrimina la discapacidad intelectual en pacientes con microcefalia mejor que mediciones aisladas de PC, especialmente en etiologías secundarias y mixtas

INTRODUCTION: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct ætiological presentations of microcephaly. PATIENTS AND METHODS: 3,269 head circumference (HC) charts of patients from a tertiary neuropædiatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). RESULTS: Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled group while the overall concordance was 66%. In the symptomatic-mixed group the concordance between HC function and outcome reached 82% in contrast to only 54% in the idiopathic-syndromic group (P-value=0.0002). CONCLUSIONS: We defined a HC growth function which discriminates intellecutal disability of microcephalic patients better than isolated HC measurements, especially for those with secondary and mixed ætiologies

[Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly]. / Concordancia entre una función de crecimiento del perímetro cefálico y la discapacidad intelectual en relación con la etiología de la microcefalia.

INTRODUCTION: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct aetiological presentations of microcephaly. PATIENTS AND METHODS: 3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). RESULTS: Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled group while the overall concordance was 66%. In the symptomatic-mixed group the concordance between HC function and outcome reached 82% in contrast to only 54% in the idiopathic-syndromic group (P-value=0.0002). CONCLUSIONS: We defined a HC growth function which discriminates intellectual disability of microcephalic patients better than isolated HC measurements, especially for those with secondary and mixed aetiologies.

La Neurología Pediátrica y las enfermedades minoritarias / Pediatric Neurology and rare diseases

El Servicio de Neurología Pediátrica del Hospital Universitario Vall d´Hebrond e Barcelona, en sus 30 años de historia, ha sido pionero en el desarrollo de asitencia e investigación en enfermedades neurológicas graves que afectan als istema nervioso en desarrollo. Sobre la base de un enfoque propio del hospital terciario, ha dadoprioridad a la interdisciplinariedad en la asistencia y a la potenciación de investigación y docencia a través de la creción de un grupo propio de investigación y un progrma de máster en Neurología Pediátrica. La presente revisión ilustra la trayectoria del servicio a tráves de sus contribuciones en el campo de las enfermedades minoritarias. Entre la extensa bibliografía del grupo, destaca la descripción o caracterización de al menos tres nuevos síndromes neurológicos pediátricos, la leuconcefalopatía maligna con hiperglicinemia e hipertensión pulmonar, el síndorme de disgenesia congénita trocoencefálica y una nueva variante de encefalopatía epiléptica, así como la productiva investigación en neurogenética de la migraña y otros trastornos paroxísticos y en la fisiopatología de la necrosis-regeneración muscular asociada al déficit de distrofina (AU)

Over the last three decades, The Pediatric Neurology Sevice at Vall d´Hebron University Hospital in Barcelona has been a pioneer in the country in developing a modern approach to the care of the severe neurological disorders of the developing nervous system. In the setting of a tertiary care enter, a multidisciplinar attentionto the patient, the fostering of clinical and applied research and the excellence in postgraduate training have been prioritized. This is reflected in the foudation of a laboratory research group and a Master programme in Pediatric Neurology. In the present review the Service achievements are illustrated through a brief accout of the contributions made in the field of rare disorders. Among a large number of publications, we emphasize the description and characterization of at least three novel syndromes, a progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension, congenital brainstem dysgenesis and a distinct epileptic encephalopathy phenotype, as well as a rather productive research in genetics of migraine and other paroxysmal disorders and in the pathophysiology of muscle necrosis and regeneration associated to dystrophin deficiency (AU)

[Cerebellar atrophy following acute Mycoplasma pneumoniae cerebellitis]. / Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae.

INTRODUCTION: Acute cerebellitis is an uncommon complication following Mycoplasma pneumoniae infection. A benign and self-limited course has been described in the few reports found of this association. CASE REPORTS: We report two patients with an apparently M. pneumoniae-induced acute cerebellitis that resulted in cerebellar atrophy. Patients presented with a cerebellar syndrome including ataxia, hypotonia, dysarthric speech and dysmetria, which were preceded by signs of respiratory infection. Initial brain magnetic resonance imaging (MRI) in case 1 was normal but in case 2 it displayed striking cerebellar swelling, small fourth ventricle and supratentorial ventriculomegaly which was self-limited and did not require neurosurgical intervention. Serological studies confirmed a recent M. pneumoniae infection. Case 1 has followed an unfavourable clinical course, with incomplete resolution of cerebellar dysfunction, while case 2 has remained asymptomatic. Follow-up brain MRI have demonstrated prominent cerebellar atrophy in both patients. CONCLUSIONS: M. pneumoniae infection should be considered in those patients with acute cerebellitis showing an incomplete resolution of cerebellar dysfunction or those who develop early cerebellar atrophy. The presenting MRI findings do not seem to predict final neurological outcome.

Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae / Cerebellar atrophy following acute mycoplasma pneumoniae cerebellitis

Introducción. La cerebelitis aguda es una complicación infrecuente de la infección por Mycoplasma pneumoniae. Los pocos pacientes descritos han seguido un curso benigno y autolimitado de forma similar al de las cerebelitis relacionadas con otros gérmenes. Casos clínicos. Describimos dos pacientes con una cerebelitisaguda por M. pneumoniae que evoluciona en pocos meses hacia una marcada atrofia cerebelosa. Los pacientes presentaron un síndrome cerebeloso caracterizado por ataxia, hipotonía, disartria y dismetría de las cuatro extremidades, precedido por signos de infección respiratoria. La resonancia magnética (RM) cerebral practicada durante la fase aguda en el caso 1 resultó normal y e nel caso 2 demostró un llamativo edema del parénquima cerebeloso, con IV ventrículo pequeño y ventriculomegalia supratentorial, que se autolimitó y que no requirió de intervención neuroquirúrgica. Los estudios serológicos permitieron confirmar la infección reciente por M. pneumoniae. En el caso 1 se ha observado la persistencia de signos de disfunción cerebelosa, mientras que el caso 2 está asintomático. Ambos pacientes muestran una llamativa atrofia cerebelosa en las RM cerebrales practicadas a lo largo de su control clínico. Conclusiones. Debe considerarse la infección por M. pneumoniae en pacientes con cerebelitis aguda que presenten resolución incompleta de la disfunción cerebelosa o que evolucionen de forma precoz hacia la atrofia cerebelosa. Las manifestaciones neurorradiológicas iniciales no permiten predecir el pronóstico neurológico final (AU)

Introduction. Acute cerebellitis is an uncommon complication following Mycoplasma pneumoniae infection. A benign and self-limited course has been described in the few reports found of this association. Case reports. We report twopatients with an apparently M. pneumoniae-induced acute cerebellitis that resulted in cerebellar atrophy. Patients presented with a cerebellar syndrome including ataxia, hypotonia, dysarthric speech and dysmetria, which were preceded by signs of respiratory infection. Initial brain magnetic resonance imaging (MRI) in case 1 was normal but in case 2 it displayed striking cerebellar swelling, small fourth ventricle and supratentorial ventriculomegaly which was self-limited and did not requiren euro surgical intervention. Serological studies confirmed a recent M. pneumoniae infection. Case 1 has followed an unfavourable clinical course, with incomplete resolution of cerebellar dysfunction, while case 2 has remained asymptomatic. Follow-up brain MRI have demonstrated prominent cerebellar atrophy in both patients. Conclusions. M. pneumoniae infection should be considered in those patients with acute cerebellitis showing an incomplete resolution of cerebellar dysfunction or those who develop early cerebellar atrophy. The presenting MRI findings do not seem to predict final neurological outcome (AU)

[Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin]. / Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular.

INTRODUCTION: Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-alpha) and its later association with ribavirin aroused new expectations. In experimental studies the two drugs were seen to exert a synergic effect in reducing viral replication. Therapeutic studies carried out in patients with SSPE with the two pharmaceuticals have offered contradictory findings. CASE REPORTS: We present the cases of two patients with an early-onset, fast progressing form of SSPE, who were treated with a combined regime of oral isoprenosin, intraventricular IFN-alpha and ribavirin, which was administered intravenously in one case and intraventricularly in the other. At the beginning of treatment the patients' deterioration stabilised briefly and temporarily, but then renewed its progress. CONCLUSIONS: Combined therapy with intraventricular IFN-alpha and ribavirin was not effective in our patients. The late onset and rapidly progressing symptoms of the disease may have had an effect on the poor results obtained.

Panencefalitis esclerosante subaguda: tratamiento combinado con interferon alfa y ribavirina intraventricular / Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin

Introducción. La panencefalitis esclerosante subaguda (PEES) es una enfermedad neurodegenerativa crónica secundaria a una infección del sistema nervioso central por el virus del sarampión, sin un tratamiento efectivo. La introducción del tratamiento con interferón alfa (IFN-a) intraventricular y la asociación posterior de ribavirina despertó nuevas expectativas. En estudios experimentales se comprobó un efecto sinérgico de ambos fármacos en la disminución de la replicación vírica. Los estudios terapéuticos realizados en pacientes afectos de PEES con ambos fármacos han dado resultados discordantes. Casos clínicos. Presentamos dos pacientes afectos de PEES con una forma de inicio precoz y rápidamente progresiva, que se trataron con una pauta combinada de isoprenosina oral, IFN-a intraventricular y ribavirina endovenosa en un caso, e intraventricular, en el otro. Al inicio del tratamiento. los pacientes presentaron una estabilización temporal breve de su deterioro, para después progresar de nuevo. Conclusión. El tratamiento combinado con IFN-a intraventricular y ribavirina no ha sido efectivo en nuestros pacientes. Es posible que su inicio tardío y la forma de presentación rápidamente progresiva de la enfermedad hayan influido en los malos resultados (AU)

Introduction. Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-α) and its later association with ribavirin aroused new expectations. In experimental studies the two drugs were seen to exert a synergic effect in reducing viral replication. Therapeutic studies carried out in patients with SSPE with the two pharmaceuticals have offered contradictory findings. Case reports. We present the cases of two patients with an early-onset, fast progressing form of SSPE, who were treated with a combined regime of oral isoprenosin, intraventricular IFN-α and ribavirin, which was administered intravenously in one case and intraventricularly in the other. At the beginning of treatment the patients’ deterioration stabilised briefly and temporarily, but then renewed its progress. Conclusions. Combined therapy with intraventricular IFN-α and ribavirin was not effective in our patients. The late onset and rapidly progressing symptoms of the disease may have had an effect on the poor results obtained (AU)

Epilepsia y alteración del pelo en un lactante / Epilepsy and hair alterations in a neonate

No disponible

[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome]. / Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito.

INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has been associated with mutations in the NTRK1 gene, located in 1q21-22 and encoding a high-affinity NGF receptor. CASE REPORT: An 8-year-old boy, the first son of consanguineous parents, presented with hypotonia, episodic hyperpyrexia and global developmental delay since the neonatal period. In addition to these signs, typical of CIPA, he displayed some other not previously described in this disease, such as facial dysmorphism, a severe swallowing disorder and a myogenic EMG pattern, that led to the initial suspicion of a muscle disorder. Molecular genetics studies uncovered a mutation c.C2011T in exon 15 of the NTRK1 gene. Genetic counselling was possible in the following pregnancy of the couple, where the female fetus was found to harbour the mutation in heterozygosity. The subsequent diagnosis of a congenital myasthenic syndrome in this sister led to neurophysiological re-evaluation of the probandus, in whom a myasthenic pattern of muscle activation was also found. CONCLUSIONS: A patient with CIPA and congenital myasthenic syndrome is described. CIPA must be the first diagnostic hypothesis when assessing a patient with insensitivity to pain, anhidrosis and self-mutilation. Given the rather homogeneous presentation of CIPA, the occurrence of atypical myopathic manifestations should raise the suspicion of a concurrent disorder. The present consanguineous kindred illustrates a rare instance of transmission of two mutated alleles giving rise to two unrelated, infrequent neurological syndromes.

Insensibilidad congénita al dolor con anhidrosis asociada a síndrome miasténico congénito / Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome

Introducción. La insensibilidad congénita al dolor con anhidrosis (CIPA) o neuropatía hereditaria sensitivoautonómica de tipo IV (HSAN IV) es un raro trastorno autosómico recesivo caracterizado por episodios recurrentes de fiebre, anhidrosis, ausencia de sensibilidad al dolor y retraso mental de gravedad variable. Se asocia a mutaciones en el gen NTRK1, localizado en el cromosoma 1q21-22, que codifica uno de los receptores del factor de crecimiento nervioso. Caso clínico. Describimos el caso de un niño de 8 años de edad, primer hijo de padres consanguíneos, que presenta hipotonía, episodios de hiperpirexia y retraso global desde el período neonatal, manifestaciones típicas de la CIPA, además de signos previamente no descritos en esta enfermedad como son anomalías fenotípicas, un grave trastorno de deglución durante los primeros meses de vida y un patrón miógeno en el estudio neurofisiológico, que condujeron a la sospecha inicial de proceso miopático. El estudio genético molecular detectó una mutación c.C2011T en el exón 15 del gen NTRK1. El hallazgo de dicha mutación en heterocigosidad en la hermana menor del paciente permitió efectuar consejo genético. Sin embargo, el diagnóstico de un síndrome miasténico congénito en esta hermana y la posterior observación de hallazgos neurofisiológicos miasteniformes también en nuestro paciente permiten explicar la existencia de estas manifestaciones atípicas de la CIPA. Conclusiones. Presentamos un paciente afecto de CIPA y síndrome miasténico congénito. Debe considerarse la posibilidad de CIPA como primera hipótesis diagnóstica en la valoración de un paciente con insensibilidad al dolor, anhidrosis y automutilación. Dada la considerable homogeneidad clínica de la CIPA, la aparición de signos atípicos miopáticos debe despertar la sospecha de algún otro trastorno asociado. La familia consanguínea que presentamos ilustra la situación muy poco frecuente de transmisión de dos alelos mutados, causantes de dos enfermedades neurológicas supuestamente monogénicas, a un mismo individuo (AU)

Introduction. Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive disorder featuring recurrent fever episodes, inability to sweat, absent response to noxious stimuli, self mutilating behavior and mental retardation. It has been associated with mutations in the NTRK1 gene, located in 1q21-22 and encoding a high-affinity NGF receptor. Case report. An 8-year-old boy, the first son of consanguineous parents, presented with hypotonia, episodic hyperpyrexia and global developmental delay since the neonatal period. In addition to these signs, typical of CIPA, he displayed some other not previously described in this disease, such as facial dysmorphism, a severe swallowing disorder and a myogenic EMG pattern, that led to the initial suspicion of a muscle disorder. Molecular genetics studies uncovered a mutation c.C2011T in exon 15 of the NTRK1 gene. Genetic counselling was possible in the following pregnancy of the couple, where the female fetus was found to harbour the mutation in heterozygosity. The subsequent diagnosis of a congenital myasthenic syndrome in this sister led to neurophysiological re-evaluation of the probandus, in whom a myasthenic pattern of muscle activation was also found. Conclusions. A patient with CIPA and congenital myasthenic syndrome is described. CIPA must be the first diagnostic hypothesis when assessing a patient with insensitivity to pain, anhidrosis and selfmutilation. Given the rather homogeneous presentation of CIPA, the occurrence of atypical myopathic manifestations should raise the suspicion of a concurrent disorder. The present consanguineous kindred illustrates a rare instance of transmission of two mutated alleles giving rise to two unrelated, infrequent neurological syndromes (AU)

[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain]. / Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial.

INTRODUCTION: A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfectious causes, and subacute or chronic, in which inborn errors of metabolism, especially mitochondrial disorders, are the main causes. CASE REPORT: We report a detailed clinical follow-up of a 18 years old Caucasian male who, at the age of four, presented with BSLS. A respiratory chain defect was suspected on the basis of slowly progressive dystonia and cognitive impairment, changes in serial MRI studies, and the finding of 'trabecular fibers' as well as a 50% decrease of the complex I activity in striated-skeletal muscle specimen. Blood, urine and CSF markers classically associated with respiratory chain diseases were normal. Molecular studies identified a new pathogenetic mutation (T14487C) in the mitochondrial ND6 gene of the respiratory chain complex I. CONCLUSION: Mitochondrial metabolism disorders should be ruled out in patients presenting with a subacute or chronic form of BSLS even in the absence of other common mitochondrial disease markers.

Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial / A patient with bilateral lesión in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I

Introducción. El síndrome de lesión bilateral del estriado (SLBE) constituye la forma de presentación de un elevado número de enfermedades. Las manifestaciones clínicas, la evolución y el pronóstico de las mismas es muy variable. En función de su curso evolutivo, éstas pueden dividirse en dos grandes grupos: unas, de presentación aguda, que suelen responder a causas tóxicas, infecciosas o parainfecciosas, y otras, subagudas o crónicas, cuya causa fundamental son los errores congénitos del metabolismo. Caso clí- nico. Varón de 18 años que, a los 4 años de edad, debutó con un SLBE. Se sospechó un defecto de la cadena respiratoria mitocondrial sobre la base de la distonía y la alteración de las funciones cognitivas lentamente progresiva, la evolución de las imágenes en la resonancia magnética cerebral y el hallazgo de fibras trabeculadas, así como una disminución del 50% en la actividad del complejo I en el músculo estriado. Sin embargo, las determinaciones bioquímicas en la sangre, la orina y el líquido cefalorraquídeo, encaminadas a detectar trastornos en la función mitocondrial, fueron repetidamente normales. Los estudios moleculares identificaron una nueva mutación patogenética (T14487C) del gen mitocondrial ND6 del complejo I de la cadena respiratoria mitocondrial. Conclusiones. Deben descartarse trastornos del metabolismo mitocondrial cuando se valoren pacientes afectados de un SLBE de curso clínico cronicorrecurrente, incluso en ausencia de otros marcadores que así lo sugieran (AU)

Introduction. A large number of diseases present as bilateral striatal lesion syndrome (BSLS). Clinical manifestations, course and prognosis of these diseases are extremely variable. On the basis of their evolutive course, they can be separated into two major groups: acute, which include toxic, infectious or parainfectious causes, and subacute or chronic, in which inborn errors of metabolism, especially mitochondrial disorders, are the main causes. Case report. We report a detailed clinical follow-up of a 18 years old Caucasian male who, at the age of four, presented with BSLS. A respiratory chain defect was suspected on the basis of slowly progressive dystonia and cognitive impairment, changes in serial MRI studies, and the finding of ‘trabecular fibers’ as well as a 50% decrease of the complex I activity in striatedskeletal muscle specimen. Blood, urine and CSF markers classically associated with respiratory chain diseases were normal. Molecular studies identified a new pathogenetic mutation (T14487C) in the mitochondrial ND6 gene of the respiratory chain complex I. Conclusion. Mitochondrial metabolism disorders should be ruled out in patients presenting with a subacute or chronic form of BSLS even in the absence of other-common mitochondrial disease markers (AU)

Hipodensidad bilateral de ganglios basales en neuroimagen. Correlato clinicoevolutivo en la edad pediátrica / Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children

No disponible

Características clínicas de la migraña en la edad pediátrica / Clinical characteristics of migraine in childhood

Introducción. Las características clínicas y evolutivas de la migraña en la edad pediátrica aún no están definidas con precisión. Del mejor conocimiento de estos aspectos, sin embargo, pueden derivar importantes consecuencias pronósticas y terapéuticas. Objetivo. Delinear las características clínicas y evolutivas de la migraña en la edad pediátrica. Pacientes y métodos. Estudio prospectivo, de 10 años de duración, en una población de 284 niños afectos de migraña, visitados en dos centros hospitalarios. Los datos obtenidos se han analizado mediante técnicas estadísticas de significación y regresión logística. Resultados. El 24,3 por ciento iniciaron su cefalea antes de los 6 años y el 57 por ciento entre los 6 y 10 años. En el 77,5 por ciento de los pacientes se recogen antecedentes familiares de migraña, porcentaje que se eleva al 82,6 por ciento entre los niños que iniciaron las crisis antes de los 6 años. Características tales como la duración, localización y factores acompañantes difieren de las definidas en los adultos. El 88,3 por ciento presentan una buena evolución espontánea, sin requerir medicación profiláctica. Conclusiones. La migraña pediátrica tiene algunas características diferentes a la de la edad adulta, que deben ser recogidas en las clasificaciones. La mayor parte de los niños migrañosos presentan cefaleas poco graves que no precisan profilaxis. El factor genético parece desempeñar un importante papel en la expresión fenotípica de la enfermedad (AU)

[Clinical characteristics of migraine in childhood]. / Características clínicas de la migraña en la edad pediátrica.

INTRODUCTION: The clinical presentation and progression of childhood migraine has still not been clearly defined. However, major advances in prognosis and treatment would follow this. OBJECTIVE: To trace the clinical features and course of childhood migraine. PATIENTS AND METHODS: A prospective study, lasting 10 years, in a population of 284 children with migraine, seen at two hospitals. The data obtained were analysed using techniques of statistical significance and logistic regression. RESULTS: In 24.3% headaches started before the age of 6 years, and in 57% at between 6 and 10 years of age. In 77.5% of the patients there was a family history of migraine, this figure rose to 82.6% in the children whose headaches started before the age of 6 years. Characteristics such as duration, site and accompanying factors differed from those seen in adults. There was spontaneous improvement in 88.3%, who did not require prophylactic medication. CONCLUSIONS: Childhood migraine has some characteristics which distinguish it from adult migraine. This should be noted in classification. Most children with migraine have mild headaches which do not require prophylaxis. A genetic factor appears to play an important rol in phenotype expression of the disorder.

[Ophthalmoplegia-ataxia-areflexia in pediatrics. Three new patients and review of the literature]. / Oftalmoplejía-ataxia-arreflexia en pediatría. Tres nuevos pacientes y revisión de la literatura.

OBJECTIVE: The objective of this study was to investigate if pediatric patients with benign brainstem encephalitis (Bickerstaff Syndrome) or with Miller-Fisher Syndrome are the extremes of the same nosological entity which, in adults, has been named ophalmoplegia-ataxia-areflexia syndrome. PATIENTS AND METHODS: The subjects included in the study were three patients of our institution and 24 patients found in the revision of the English and Spanish pediatric literature who fulfilled the diagnostic criteria of ophtalmoplegia-ataxia-areflexia syndrome. The topographical location of the lesion in the nervous system was based on previously established criteria by using clinical and complementary studies. RESULTS: Of the 27 patients included in the study we were able to reach an accurate topographical diagnosis in 9. None had an exclusive involvement of the peripheral nervous system, (6) had exclusively central nervous system involvement and 2 showed involvement of both system. In 12, the topographical location of the lesion could be only ascertained as probable; 3 of them in the peripheral nervous system, 2 in the central nervous system and mixed involvement in 7. In the remaining 7 patients there were insufficient clinical data to allow topographical classification. CONCLUSIONS: The ophtalmoplegia-ataxia-areflexia syndrome can also be found in pediatric patients. The lesion in the majority of patients in this age group is located in the central nervous system, either alone or combined with peripheral nervous system involvement.

[Chronic encephalopathy in patients with sex-linked agammaglobulinemia]. / Encefalopatía crónica en pacientes con agamaglobulinemia ligada al sexo.

The clinical and neuroradiological findings of two patients with X-linked agammaglobulinemia, who developed a chronic encephalopathy, are presented. The main neurological manifestations in both patients were: progressive spastic tetraparesis, cortico-subcortical type of dementia and seizures. No infectious agent was identified in either patient. A systematic review of the clinical findings of 37 patients reported in the literature with X-linked agammaglobulinemia and chronic encephalopathy allows the distinction of two subgroups of patients according to their form of presentation (acute or insidious). In each subgroup there are significant clinical differences. The clinical-neuroradiological similarities between this complication and the ones derived from the vertically transmitted form of the human immunodeficiency virus are pointed out. Finally, emphasis is made on the need for CSF viral cultures on patients with X-linked agammaglobulinemia as soon as a neurological complication is suspected.