[Botulinum toxin in infantile cerebral palsy]. / Toxina botulínica en la parálisis cerebral infantil.

INTRODUCTION: A number of studies have proved the effectiveness and safety of botulinum toxin in therapeutic doses. AIM: To analyse the results obtained over a 12-year period in which botulinum toxin type A (BTA) was used to treat infantile cerebral palsy (CP). PATIENTS AND METHODS: Of a total number of 547 patients who were treated, 515 had CP, 464 with spasticity, 46 with mixed CP and 5 with dyskinetic CP with focal dystonia. RESULTS: Overall evaluation of BTA is positive, both as regards its beneficial effects and its safety: tone was mildly improved in 18.5% of patients, with no change in motor functioning, 39% showed a moderate improvement, 19% a marked improvement and 5.6% experienced a marked and prolonged improvement. Forty-two patients (8.15%) presented side effects, the most common being weakness in the lower limbs, which occurred in 21 cases. CONCLUSIONS: BTA is a good therapeutic option for treating children with CP, not only for the focal involvement but also as palliative treatment in children with diffuse involvement.

Toxina botulínica en la parálisis cerebral infantil / Botulinum toxin in infantile cerebral palsy

Introducción. Numerosos estudios han demostrado la eficacia y la seguridad de la toxina botulínica en dosis terapéuticas.Objetivo. Analizar los resultados obtenidos durante 12 años de utilización de la toxina botulínica de tipo A (TBA) para el tratamiento de la parálisis cerebral (PC) infantil. Pacientes y métodos. De 547 pacientes tratados, 515 presentaban PC, 464 con espasticidad, 46 con PC mixta y 5 con PC discinética con distonía focal. Resultados. La valoración global de la TBA es positiva, tanto por sus efectos beneficiosos como por su seguridad: el 18,5% de los pacientes presentó una mejoría leve en el tono, sin cambio en la función motriz, el 39% presentó una mejoría moderada, el 19% una mejoría marcada y el 5,6% una mejoría marcada y prolongada. Cuarenta y dos pacientes (8,15%) presentaron efectos secundarios, de los cuales la debilidadde las extremidades inferiores fue el más frecuente, presente en 21casos. Conclusiones. La TBA constituye una buena opción terapéutica para el tratamiento de niños con PC, no sólo para la afectación focal, sino también como tratamiento paliativo en niños con afectación difusa

Introduction. A number of studies have proved the effectiveness and safety of botulinum toxin in therapeutic doses.Aim. To analyse the results obtained over a 12-year period in which botulinum toxin type A (BTA) was used to treat infantile cerebral palsy (CP). Patients and methods. Of a total number of 547 patients who were treated, 515 had CP, 464 with spasticity,46 with mixed CP and 5 with dyskinetic CP with focal dystonia. Results. Overall evaluation of BTA is positive, both as regards its beneficial effects and its safety: tone was mildly improved in 18.5% of patients, with no change in motor functioning, 39% showed a moderate improvement, 19% a marked improvement and 5.6% experienced a marked and prolonged improvement. Forty-two patients (8.15%) presented side effects, the most common being weakness in the lower limbs, which occurred in 21 cases. Conclusions. BTA is a good therapeutic option for treating children with CP, not only for the focal involvement but also as palliative treatment in children with diffuse involvementu

[Clinical characteristics and progress of patients with migrainous headaches monitored in the Headache Unit in a paediatric referral hospital]. / Características clínicas y evolución de los pacientescon cefalea migrañosa seguidos en la Unidad deCefaleas de un hospital pediátrico de referencia.

AIM: To analyse the clinical characteristics and course of migraine patients who were attended in the Headache Unit of a paediatric referral hospital. PATIENTS AND METHODS: We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. RESULTS: There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. CONCLUSIONS: Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient's presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects.

Características clínicas y evolución de los pacientes con cefalea migrañosa seguidos en la Unidad de Cefaleas de un hospital pediátrico de referencia / Clinical characteristics and progress of patients with migrainous headaches monitored in the headache unit in a paediatric referral hospital

Analizar características clínicas y evolución de niños con migraña, atendidos en la Unidad de Cefaleasde un hospital pediátrico de referencia. Pacientes y métodos. Estudio observacional retrospectivo de niños seguidos en la Unidad de Cefaleas del Servicio de Neurología, que cumplían criterios diagnósticos de migraña según la Sociedad Internacional de Cefaleas, con seguimiento superior a seis meses. Se excluyeron: pacientes con abandono del tratamiento o controles clínicos, datos incompletos en el expediente. Resultados. Se encontró predominio de pacientes con edades entre 7 y 12 años, sin diferencia respecto al sexo. Predominó la migraña sin aura (74%) de localización bilateral y frontal, con duración de los episodios entre 3 y 12 horas, y fue pulsátil en el 45%. Los síntomas acompañantes más comunes fueron fotofobia (86%) y fonofobia (88%). Exceptuando la segunda consulta, la tendencia del grupo sin tratamiento profiláctico fue favorable. Cuando se indicó tratamiento profiláctico, se evidenció una respuesta favorable (p < 0,05), y no se encontraron diferencias significativas respecto al fármaco. Al 73% de los pacientes se les dio de alta, y la mayoría precisaron tres consultas; el 30% de los pacientes tratados comunicó algún tipo de efecto adverso. Conclusiones. La migraña en la edad pediátrica se caracteriza por episodios intensos de cefalea de corta duración y localización frontal en la mayoría de los casos. La evolución es satisfactoria sin medidas farmacológicas en un porcentaje alto de pacientes. Cuando se requirió medicación profiláctica (por presentar episodios frecuentes de migraña con puntuaciones altas en la escala PedMIDAS), la respuesta obtenida fue favorable (p < 0,05), con algunos efectos adversos

To analyse the clinical characteristics and course of migraine patients who were attended in the HeadacheUnit of a paediatric referral hospital. Patients and methods. We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. Results. There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. Conclusions. Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient’s presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects

[Inborn errors of neurotransmitters in neuropaediatrics]. / Errores congénitos de los neurotransmisores en Neuropediatría.

AIMS: The aim of this work is to describe the clinical, biochemical and genetic characteristics of neurotransmitter diseases at the paediatric age, together with possible forms of treatment. We also sought to determine the diagnostic methodology of these disorders (collection and analysis of samples). DEVELOPMENT: These diseases essentially consist of a deficit of biogenic amines and alterations in GABA metabolism (gamma-aminobutyric acid). Disorders affecting the neurotransmission of biogenic amines often present in the form of hypokinesia, trunk hypotonia with increased limb tone, oculogyric crises, ptosis, faulty temperature regulation or abnormal movements. Defects in GABA metabolism give rise to epileptic encephalopathies and unspecific mental retardation, sometimes associated to signs of cerebellar dysfunction, convulsions and alterations in neuroimaging studies. Overall incidence of these diseases is low but they are unquestionably under-diagnosed, since they cannot be detected by conventional studies in plasma and urine, and require extraction and directed analysis of cerebrospinal fluid (CSF) for their detection. Additionally, the CSF study must be carried out in specific standardised conditions. Segawa's disease, or dopa-responsive dystonia, responds extremely well to therapy, whereas the other entities respond in varying ways to the different therapeutic alternatives. CONCLUSIONS: It is important for the paediatrician to know about these entities as a group of treatable neurometabolic diseases. Moreover, their detection would allow prenatal diagnosis in the vast majority of cases.

Errores congénitos de los neurotransmisores en Neuropediatría / Inborn errors of neurotransmitters in neuropaediatrics

Objetivo. Describir las características clínicas, bioquímicasy genéticas de las enfermedades de los neurotransmisoresen la edad pediátrica, así como las posibilidades terapéuticas.Determinar la metodología diagnóstica de estos trastornos (recogiday análisis de muestras). Desarrollo. Estas enfermedades comprendenbásicamente déficit de las aminas biógenas y alteracionesdel metabolismo del GABA (ácido ã-aminobutírico). Los trastornosde la neurotransmisión de las aminas biógenas se presentangeneralmente en forma de hipocinesia, hipotonía troncal con aumentodel tono en las extremidades, crisis oculogíricas, ptosis,desregulaciones de la temperatura o movimientos anormales. Losdefectos del metabolismo del GABA producen encefalopatías epilépticasy retraso mental inespecífico, asociado en ocasiones asignos de disfunción cerebelosa, convulsiones y alteraciones en laneuroimagen. La incidencia global de estas enfermedades es baja,pero sin duda se infradiagnostican, dado que no pueden detectarsemediante estudios convencionales en plasma y orina, y se requierede la extracción y análisis dirigido del líquido cefalorraquídeo(LCR) para su detección. El estudio del LCR debe realizarse,además, en unas determinadas condiciones estandarizadas. Laenfermedad de Segawa o distonía dopasensible presenta una respuestaexcelente al tratamiento, mientras que el resto de las entidades responden de manera variable a las diferentes alternativasterapéuticas. Conclusiones. Es importante que el neuropediatraconozca estas entidades como un grupo de enfermedades neurometabólicastratables. Su detección, además, permitiría la realizaciónde un diagnóstico prenatal en la gran mayoría de los casos

Aims. The aim of this work is to describe the clinical, biochemical and genetic characteristics of neurotransmitterdiseases at the paediatric age, together with possible forms of treatment. We also sought to determine the diagnosticmethodology of these disorders (collection and analysis of samples). Development. These diseases essentially consist of adeficit of biogenic amines and alterations in GABA metabolism ( ã-aminobutyric acid). Disorders affecting the neurotransmissionof biogenic amines often present in the form of hypokinesia, trunk hypotonia with increased limb tone, oculogyriccrises, ptosis, faulty temperature regulation or abnormal movements. Defects in GABA metabolism give rise to epilepticencephalopathies and unspecific mental retardation, sometimes associated to signs of cerebellar dysfunction, convulsions andalterations in neuroimaging studies. Overall incidence of these diseases is low but they are unquestionably under-diagnosed,since they cannot be detected by conventional studies in plasma and urine, and require extraction and directed analysis ofcerebrospinal fluid (CSF) for their detection. Additionally, the CSF study must be carried out in specific standardisedconditions. Segawa’s disease, or dopa-responsive dystonia, responds extremely well to therapy, whereas the other entitiesrespond in varying ways to the different therapeutic alternatives. Conclusions. It is important for the paediatrician to knowabout these entities as a group of treatable neurometabolic diseases. Moreover, their detection would allow prenatal diagnosisin the vast majority of cases

[Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of Botulinum toxin]. / Evolución y tratamiento de la encefalopatía subaguda progresiva por virus de inmunodeficiencia humana en el niño. Utilidad de la toxina botulínica.

INTRODUCTION: Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool age children suffering from this pathology who have benefited from long term treatment with botulinum toxin type A (BTA). CASE REPORTS: Four patients suffering from early onset PSE HIV, who responded well to combined antiviral therapies, and who had severe motor sequelae (two cases of tetraparesis and two spastic dysplegias), with no cognitive disorders. The multidisciplinary treatment of their motor disorder included six monthly sessions of muscular injections of BTA in the usual doses, with good results from the functional point of view and with no significant side effects. DISCUSSION: PSE-HIV is defined by one of the following criteria: acquired microcephalus, retarded neurological development or symmetrical motor involvement. It constitutes one of the most frequent diagnostic criteria of AIDS in patients infected by vertical transmission. An early diagnosis and treatment are fundamental for the patient's prognosis. Severe motor sequelae in the form of spastic infantile cerebral palsy are frequent. In our experience treatment of the spasticity associated to this entity with BTA has proved to be useful and safe, with a clear improvement in gait functionality.

Evolución y tratamiento de la encefalopatía subaguda progresiva por virus de inmunodeficiencia humana en el niño. Utilidad de la toxina botulínica / Course and treatment of progressive subacute encephalopathy caused by human immunodeficiency virus in children. The value of botulinum toxin

Introducción. La encefalopatía subaguda progresiva por virus de inmunodeficiencia humana (ESP-VIH) es una causa importantedemorbimortalidadenlainfecciónperinatalporVIH.Aunquelos tratamientos antirretrovirales combinados actuales consiguen frenar su evolución, a menudo produce graves secuelas motoras similares a la parálisis cerebral infantil espástica de otras etiologías. Presentamos los casos clínicos de cuatro preescolares afectados de esta patología que se han beneficiado de un tratamiento a largo plazo con toxina botulínica de tipo A (TBA). Casos clínicos. Cuatro pacientes afectados de ESP-VIH de inicio precoz, con buena respuesta a las terapias antirretrovirales combinadas y graves secuelas motoras (dos tetraparesias y dos displejías espásticas), sin afectación cognitiva. El tratamiento pluridisciplinar de su afectación motora ha incluido sesiones semestrales de inyecciones musculares de TBA con las dosis habituales, con buenos resultados desde el punto de vista funcional y sin efectos adversos mayores. Discusión. La ESP-VIH se define por uno de los criterios siguientes: microcefalia adquirida, retraso en el desarrollo neurológico o afectación motora simétrica. Es uno de los criterios diagnósticos de sida más frecuentes en los pacientes infectados por transmisión vertical. Un diagnóstico y tratamiento precoces son básicos para el pronóstico del enfermo. Son frecuentes las secuelas motoras graves en forma de parálisis cerebral infantil espástica. En nuestra experiencia, el tratamiento de la espasticidad asociada a esta entidad con TBA se ha mostrado útil y seguro, con una mejora franca de la funcionalidad de la marcha (AU)

Introduction. Progressive subacute encephalopathy due to human immunodeficiency virus (PSE-HIV) is an important cause of morbidity and mortality in perinatal HIV infection. Although current combined antiretroviral therapies do manage to check its progression, they often give rise to severe motor sequelae that are similar to the spastic infantile cerebral palsy resulting from other aetiologies. We present the case reports of four preschool-age children suffering from this pathology who have benefited from long-term treatment with botulinum toxin type A (BTA). Case reports. Four patients suffering from early onset PSE-HIV, who responded well to combined antiviral therapies, and who had severe motor sequelae (two cases of tetraparesis and two spastic dysplegias), with no cognitive disorders. The multidisciplinary treatment of their motor disorder included six-monthly sessions of muscular injections of BTA in the usual doses, with good results from the functional point of view and with no significant side effects. Discussion. PSE-HIV is defined by one of the following criteria: acquired microcephalus, retarded neurological development or symmetrical motor involvement. It constitutes one of the most frequent diagnostic criteria of AIDS in patients infected by vertical transmission. An early diagnosis and treatment are fundamental for the patient’s prognosis. Severe motor sequelae in the form of spastic infantile cerebral palsy are frequent. In our experience treatment of the spasticity associated to this entity with BTA has proved to be useful and safe, with a clear improvement in gait functionality (AU)

[Botulinum toxin Type A. Indications and results]. / Toxina botulínica tipo A. Indicaciones y resultados.

INTRODUCTION: Since introduction for clinical in the 80s, the botulinum toxin type A is being used with effectiveness in the treatment of different disorders that goes with exaggerated muscular activity. Numerous studies have been demonstrated useful for focal treatment of spasticity. PATIENTS AND METHODS: Some indications of the botulinum toxin type A for the treatment of the cerebral palsy are reviewed, emphasizing that it use must be in a global planning. The positive results and adverse events are reviewed, of a series of 278 patients with spastic cerebral palsy. RESULTS: 19% of these patients have had a slightly positive answer, with modification of the tone but without functional repercussion, 49% have had a moderate answer, 17.5% have a good improvement and a 5% have presented good improvement for a long time. Of 224 patients with more than a year of evolution, the 9.5% have presented adverse reactions, but they have always been slight and transient. CONCLUSION: The botulinum toxin type A can be considered effective and safe for the treatment of spasticity, whenever the indication is correct and it is accompanied by a treatment of physiotherapy well oriented.

Toxina botulínica tipo A. Indicaciones y resultados / Botulinum toxin Type A. Indications and results

Introducción. Desde su introducción para uso clínico en los años 80, la TBA se utiliza con eficacia en el tratamiento de distintos trastornos que cursan con actividad muscular exagerada. Múltiples estudios han demostrado su utilidad para el tratamiento local de la espasticidad. Pacientes y métodos. Se revisan algunas indicaciones de la TBA para el tratamiento de la PCI espástica, y se destaca que su uso debe formar parte de un planteamiento global. Se resumen los resultados positivos de una serie de 278 pacientes con PCI espástica, tratados con TBA, así como los efectos adversos. Resultados. El 19% de estos pacientes presentaron una respuesta ligeramente positiva, con modificación del tono, pero sin repercusión funcional, el 49% objetivó una respuesta moderada, el 17,5%, una mejoría marcada, y un 5% mostró mejoría marcada y por un tiempo prolongado. De 224 pacientes con más de un año de evolución, el 9,5% presentaron efectos adversos, leves y transitorios en todos los casos. Conclusión. La TBA puede considerarse eficaz y segura en dosis terapéuticas, siempre que la indicación sea correcta y se acompañe de un tratamiento de fisioterapia bien orientado (AU)

Introduction. Since introduction for clinical in the 80s, the botulinum toxin type A is being used with effectiveness in the treatment of different disorders that goes with exaggerated muscular activity. Numerous studies have been demonstrated useful for focal treatment of spasticity. Patients and methods. Some indications of the botulinum toxin type A for the treatment of the cerebral palsy are reviewed, emphasizing that it use must be in a global planning. The positive results and adverse events are reviewed, of a series of 278 patients with spastic cerebral palsy. Results. 19% of these patients have had a slightly positive answer, with modification of the tone but without functional repercussion, 49% have had a moderate answer, 17.5% have a good improvement and a 5% have presented good improvement for a long time. Of 224 patients with more than a year of evolution, the 9.5% have presented adverse reactions, but they have always been slight and transient. Conclusion. The botulinum toxin type A can be considered effective and safe for the treatment of spasticity, whenever the indication is correct and it is accompanied by a treatment of physiotherapy well oriented (AU)

[Late onset of pseudobulbar paralysis and dystonia in a case of hemispheric cortical dysplasia]. / Inicio tardío de parálisis pseudobulbar y distonía en un caso de displasia cortical hemisférica.

The atypical clinical course of a young male with encephalopathy due to right hemispheric cortical dysplasia (pachygiria) is described. From the first months of life the course of the disease was a static encephalopathy with left hemiparesis, epilepsy and mild mental retardation. When he was 14 years old a subacute pseudobulbar palsy, dystonia and spread of the paresis to the right side occurred. Epileptic seizures, paroxysmal EEG abnormalities and drug ingestion were excluded. Neuropsychological studies showed a low level of cognitive functions, probably related to the malformative encephalopathy and expressive language deficit due to the pseudobulbar paresis. We speculate that this case could be an atypical case of delayed onset dyskiesia.

[Mediterranean boutonneuse fever in children. Study of 139 cases]. / Fiebre botonosa mediterránea en la infancia. Estudio de 139 casos.

A prospective study of 139 children suffering mediterranean spotted fever, all of them hospitalized during the summer time of the last five years is presented. Clinical features were high fever, maculopapulous rash and black eschar ("tàche noire"). Among analytical findings, leucocyte count was decreased in a 38.8% of children during the first week of illness. Weil-Felix test was positive in 47.2% for OX-2 and 52.7% for OX-19 of cases. The indirect immunofluorescence for rickettsial conorii was positive in 100% of cases in the second determination. 74.1% of patients received antimicrobial therapy and 25.9% symptomatic treatment. All children cured without complications.