Inmunoglobulina G intravenosa como tratamiento adyuvante en epilepsia infantil farmacorresistente / Intravenous immunoglobulin G as adjuvant treatment in drug-resistant childhood epilepsy

INTRODUCCIÓN: La epilepsia es la enfermedad neurológica más común en la infancia; dependiendo de la definición de epilepsia farmacorresistente la incidencia varía del 10 a 23% en la población pediátrica. El objetivo de este estudio fue contabilizar la disminución en la frecuencia y/o duración mensual de crisis epilépticas en pacientes pediátricos con epilepsia farmacorresistente tratados con antiepilépticos, antes y después de la adición de inmunoglobulina G intravenosa (IgG iv). MÉTODOS: Estudio analítico, observacional retrospectivo de casos-controles. Se estudiaron pacientes pediátricos con epilepsia farmacorresistente atendidos en el Centro Médico Nacional 20 de Noviembre de la Ciudad de México durante el período 2003-2013 y que recibieron tratamiento con IgG IV. RESULTADOS: Ciento sesenta y siete pacientes (19,5%) presentaron epilepsia farmacorresistente y 44 (5,1%) iniciaron tratamiento adyuvante con IgG IV. La edad media de los pacientes al inicio del tratamiento fue de 6,12 años (± 5,14); 28 (73,6%) tuvieron una etiología estructural adquirida, 5 (13,1%) genética, uno (2,6%) inmune y 4 (10,5%) desconocida. A los 2 meses de la aplicación de inmunoglobulina la duración de las crisis se redujo al 66,66% y la frecuencia de las crisis alcanzó una reducción del 64% a los 4 meses de iniciado el tratamiento(p < 0,001). CONCLUSIONES: La IgG IV puede ser una terapia eficaz para la disminución en la frecuencia y duración de las convulsiones en pacientes pediátricos con epilepsia farmacorresistente, como lo demuestran los resultados de este estudio

BACKGROUND: Epilepsy is the most common neurological disease in childhood; depending on the definition of drug-resistant epilepsy, incidence varies from 10% to 23% in the paediatric population. The objective of this study was to account for the decrease in the frequency and/or monthly duration of epileptic seizures in paediatric patients with drug-resistant epilepsy treated with antiepileptic drugs, before and after adding intravenous immunoglobulin G (iIV IgG). METHODS: This is an analytic, observational, retrospective case-control study. We studied paediatric patients with drug-resistant epilepsy who were treated with IV IgG at the Centro Médico Nacional 20 de Noviembre, in Mexico City, from 2003 to 2013. RESULTS: One hundred and sixty seven patients (19.5%) had drug-resistant epilepsy and 44 (5.1%) started adjuvant treatment with IV IgG. The mean age of patients at the beginning of treatment was 6.12 years ± 5.14); aetiology was structural acquired in 28 patients (73.6%), genetic in 5 (13.1%), immune in 1 (2.6%), and unknown in 4 (10.5%). At 2 months from starting IV IgG, seizure duration had reduced to 66.66%; the frequency of seizures was reduced by 64% at 4 months after starting treatment (P < .001). CONCLUSIONS: According to the results of this study, intravenous immunoglobulin may be an effective therapy for reducing the frequency and duration of seizures in paediatric patients with drug-resistant epilepsy

Intravenous immunoglobulin G as adjuvant treatment in drug-resistant childhood epilepsy. / Inmunoglobulina G intravenosa como tratamiento adyuvante en epilepsia infantil farmacorresistente.

BACKGROUND: Epilepsy is the most common neurological disease in childhood; depending on the definition of drug-resistant epilepsy, incidence varies from 10% to 23% in the paediatric population. The objective of this study was to account for the decrease in the frequency and/or monthly duration of epileptic seizures in paediatric patients with drug-resistant epilepsy treated with antiepileptic drugs, before and after adding intravenous immunoglobulin G (iIV IgG). METHODS: This is an analytic, observational, retrospective case-control study. We studied paediatric patients with drug-resistant epilepsy who were treated with IV IgG at the Centro Médico Nacional 20 de Noviembre, in Mexico City, from 2003 to 2013. RESULTS: One hundred and sixty seven patients (19.5%) had drug-resistant epilepsy and 44 (5.1%) started adjuvant treatment with IV IgG. The mean age of patients at the beginning of treatment was 6.12 years±5.14); aetiology was structural acquired in 28 patients (73.6%), genetic in 5 (13.1%), immune in 1 (2.6%), and unknown in 4 (10.5%). At 2 months from starting IV IgG, seizure duration had reduced to 66.66%; the frequency of seizures was reduced by 64% at 4 months after starting treatment (P<.001). CONCLUSIONS: According to the results of this study, intravenous immunoglobulin may be an effective therapy for reducing the frequency and duration of seizures in paediatric patients with drug-resistant epilepsy.

[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]. / Síndrome de West como manifestación epiléptica de enfermedad de Menkes. Presentación de dos casos.

INTRODUCTION: Menkes' disease is a neurodegenerative disorder, recessive X chromosome linked (Xp13.3) that normally codify an ATPasa copper transporter. CASE REPORTS: Case 1: patient exhibit failure in the gastrointestinal copper absorption, which is insufficient to cover the needing during the first twelve months of life. The first case was a 5 months male. His developmental skills were normal until he was 5 months old, when he exhibited visual impairment and failure to continue getting normal developmental skills. One month later he had infantile spasms and hypsarrhythmia in the EEG. He had kinky hair, alopecia zones and copper serum level in 0 microg/dL (range 590-1,180 microg/dL) brain CT scan revealed diffuse cortical atrophy. The patient is 5 years old now, he is free of seizures but he has a severe neurological impairment. Case 2: he is a 7 months old male who developed during the two days of life hypotonia and weak suction. He exhibited later hypertonia, delayed neurological development and infantile spasms, microcephaly, kinky hair, blindness and EEG pattern of hypsarrhythmia. The serum copper level was 84 microg/dL (range: 590-1,180 microg/dL). The brain CT scan showed generalized atrophy, including cerebellum, extradural effusion and MRI with multiple infarcts in different stages. Electronic microscopy revealed pili torti. In both cases the diagnosis was suspected because of the hair and eyebrow features. CONCLUSIONS: We suggest a careful hair and eyebrow clinical exam in those patients with delayed milestones and early epilepsy without a documented etiology, and the copper serum level determination in those patients with suspected disease.

Síndrome de West como manifestación epiléptica de enfermedad de Menkes. Presentación de dos casos / West syndrome as an epileptic presentation in menkes'disease. Two cases report

Introducción. La enfermedad de Menkes es una patología neurodegenerativa recesiva ligada al cromosoma X (Xp13.3), que normalmente codifica una ATPasa transportadora de cobre. Casos clínicos. Caso 1: varón de 5 meses de edad que presenta un déficit en la absorción de cobre a través del intestino que le impide cubrir sus necesidades durante los doce primeros meses de vida. Sus habilidades evolutivas fueron normales hasta los 5 meses de edad, cuando manifestó trastornos visuales y se interrumpió la adquisición de las habilidades evolutivas. Un mes después presentó espasmos infantiles e hipsarritmia en el EEG. Tenía el cabello ensortijado, zonas de alopecia y nivel sérico de cobre de 0 µg/dL (intervalo: 590-1.180 µg/dL). Un estudio por tomografía computarizada cerebral mostró atrofia cortical difusa. Ahora el paciente tiene 5 años, está libre de crisis pero tiene un deterioro neurológico grave. Caso 2: varón de 7 meses de edad que desarrolló hipotonía y succión débil durante los dos primeros días de vida. Más adelante manifestó hipertonía, desarrollo neurológico retrasado y espasmos infantiles, microcefalia, cabello ensortijado, ceguera y patrón EEG de hipsarritmia. El nivel sérico de cobre fue de 84 µg/dL (intervalo: 590-1.180 µg/dL). El estudio por tomografía computarizada cerebral reveló atrofia generalizada con afectación del cerebelo, derrame extradural e imágenes de resonancia magnética con múltiples infartos en diferentes etapas de su evolución. Una exploración mediante microscopía electrónica reveló la existencia de pili torti. En ambos casos, las características que presentaban el cabello y las cejas llevaban a sospechar este diagnóstico. Conclusiones. Sugerimos que se realice una exploración meticulosa del cabello y de las cejas ante cualquier paciente con retraso en el desarrollo y epilepsia precoz sin etiología documentada, y la determinación del nivel sérico de cobre ante la sospecha de esta enfermedad (AU)

Introduction. Menkes’ disease is a neurodegenerative disorder, recessive X chromosome linked (Xp13.3) that normally codify an ATPasa cupper transporter. Case reports. Case 1: patient exhibit failure in the gastrointestinal cupper absorption, which is insufficient to cover the needing during the first twelve months of life. The first case was a 5 months male. His developmental skills were normal until he was 5 months old, when he exhibited visual impairment and failure to continue getting normal developmental skills. One month later he had infantile spasms and hypsarrhythmia in the EEG. He had kinky hair, alopecia zones and cupper serum level in 0 µg/dL (range: 590-1,180 µg/dL) Brain CT scan revealed diffuse cortical atrophy. The patient is 5 years old now, he is free of seizures but he has a severe neurological impairment. Case 2: he is a 7 months old male who developed during the two days of life hypotonia and weak suction. He exhibited later hypertonia, delayed neurological development and infantile spasms, microcephaly, kinky hair, blindness and EEG pattern of hypsarrhythmia. The serum cupper level was 84 µg/dL (range: 590-1,180 µg/dL). The brain CT scan showed generalized atrophy, including cerebellum, extradural effusion and MRI with multiple infarcts in different stages. Electronic microscopy revealed pili torti. In both cases the diagnosis was suspected because of the hair and eyebrown features. Conclusions. We suggest a careful hair and eyebrown clinical exam in those patients with delayed milestones and early epilepsy without a documented etiology, and the cupper serum level determination in those patients with suspected disease (AU)

[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family]. / Ataxia espinocerebelosa tipo 7: descripcion de una familia mexicana.

INTRODUCTION: Spinocerebellar ataxias (SCA) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. The combination of progressive cerebellar ataxia, macular pigment dystrophy, ophtalmoplegia, spasticity and an autosomal dominant pattern of transmission is characteristic of SCA 7. Genome wide linkage analysis mapped the defective gene to 3p12 13. OBJECTIVE: To describe a Mexican family with SCA 7. CASE REPORTS: We present a family pedigree of 13 individuals with ataxia and other neurologic findings in 3 generations. The evaluation consisted of a complete clinical and neurologic examination; neuropsychologic, neurophysiologic, ophthalmologic, neuroradiologic assessments and a molecular genetic study. The first 2 generations had a history of gait disturbance and visual loss. We objectively found a global cerebellar syndrome, pyramidal signs, visual impairment and ophtalmoparesis in variable grades in all members of the third generation All had progressive retinal degeneration, cerebellar, brainstem and hemispheric atrophy. We observed anticipation phenomena. Genetic analysis of the father of the third generation showed expansion of CAG triplet repeats at the SCA 7 gene. CONCLUSION: The clinical and genetic findings confirmed the diagnosis of SCA 7, and this is the first report in a Mexican family.

Ataxia espinocerebelosa de tipo 7: descripción de una familia mexicana / Spinocerebellar ataxia type 7: description of a mexican family

Introducción. Las ataxias espinocerebelosas (SCA, del inglés spinocerebellar ataxias) forman un grupo de enfermedades neurodegenerativas que se caracterizan por una disfunción cerebelosa, sola o en combinación con otras anormalidades neurológicas. La asociación de ataxia cerebelosa, distrofia macular pigmentaria progresiva, oftalmoplejía, signos piramidales y un patrón de herencia dominante, es característico de la SCA 7; los estudios de genética molecular han identificado la alteración en el cromosoma 3p12-13.Objetivo. Describir una familia mexicana con SCA 7. Casos clínicos. Se presenta el caso de una familia de 13 individuos de tres generaciones con ataxia y otros signos neurológicos. La evaluación consistió en una historia clínica y un examen neurológico completo, estudios neuropsicológicos, neurofisiológicos, oftalmológico, neurorradiológico y genético molecular. Las primeras dos generaciones tuvieron una historia de alteración en la marcha y disminución de la agudeza visual; en todos los miembros de la última generación se comprobó un síndrome cerebeloso global, piramidalismo, afectación visual y oftalmoparesia en grado variable, maculopatía con degeneración retiniana progresiva, atrofia del cerebelo, el tronco encefálico y los hemisferios cerebrales. Existió un fenómeno clínico de anticipación. El ADN del padre de la última generación mostró una expansión repetida de los tripletes CAG en el gen de SCA 7.Conclusión. Los hallazgos clínicos y genéticos demuestran que se trata de una SCA 7. Es la primera publicación de SCA 7 en una familia mexicana (AU)

Introduction. Spinocerebellar ataxias (SCA) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. The combination of progressive cerebellar ataxia, macular pigment dystrophy, ophtalmoplegia, spasticity and an autosomal-dominant pattern of transmission is characteristic of SCA-7. Genome-wide linkage analysis mapped the defective gene to 3p12-13. Objective. To describe a Mexican family with SCA-7. Case reports. We present a family pedigree of 13 individuals with ataxia and other neurologic findings in 3 generations. The evaluation consisted of a complete clinical and neurologic examination; neuropsychologic, neurophysiologic, ophthalmologic, neuroradiologic assessments and a molecular genetic study. The first 2 generations had a history of gait disturbance and visual loss. We objectively found a global cerebellar syndrome, pyramidal signs, visual impairment and ophtalmoparesis in variable grades in all members of the third generation All had progressive retinal degeneration, cerebellar, brainstem and hemispheric atrophy. We observed anticipation phenomena. Genetic analysis of the father of the third generation showed expansion of CAG triplet repeats at the SCA-7 gene. Conclusion. The clinical and genetic findings confirmed the diagnosis of SCA-7, and this is the first report in a Mexican family (AU)

[Intravenous treatment with immunoglobulins in epileptic syndromes which are difficult to control]. / Tratamiento intravenoso con inmunoglobulinas en síndromes epilépticos de difícil control.

INTRODUCTION: Several mechanisms have been found to be involved in the development of malignant epileptic syndromes in childhood and an immunological component has been shown in experimental studies of epilepsy. The effect of intravenous immunoglobulin (IgIV) has been reported in various cases of epilepsy which were difficult to control. OBJECTIVE: To show the usefulness of IgIV in West s syndrome (WS) and Lennox Gastaut syndrome (LGS) which were difficult to control. PATIENTS AND METHODS: We selected five patients who fulfilled the criteria for WS and LGS which were difficult to control. They were given IgIV for five days and subsequently six fortnightly doses of 0.5 g/kg/day. We recorded data on sex, age, onset of the disorder and laboratory investigations, including blood and cerebrospinal fluid (CSF) immunoglobulin levels. RESULTS: Four girls with symptomatic WS and one boy with LGS as a symptom of a neuro infection. Treatment was started at the age of 8 14 months. The spasms varied between 204 and 1,074 in 24 hours, and were markedly reduced after IgIV was given. The IgG in the CSF rose as the number of spasms fell (p< 0.05). CONCLUSIONS: There was a satisfactory response to treatment, as reported in previous publications. It is a coadjuvant treatment for cases which are difficult to control and may also be useful in cases of symptomatic epilepsy where goods results are also obtained.

Tratamiento intravenoso con inmunoglobulinas en síndromes epilépticos de difícil control / Intravenous treatment with immunoglobulins in epileptic syndromes which are difficult to control

Introducción. Diversos mecanismos se han implicado en la patología de los síndromes epilépticos malignos de la infancia y se ha demostrado la participación inmunológica en estudios experimentales de epilepsia. El efecto de la inmunoglobulina intravenosa (IgIV) se ha presentado en varios casos de epilepsia de difícil control. Objetivo. Demostrar la utilidad de la IgIV en síndrome de West (SW) y síndrome de Lennox-Gastaut (SLG) de difícil control. Pacientes y métodos. Cinco pacientes que reunieron criterios para SW y SLG de difícil control, los cuales recibieron IgIV durante cinco días y, posteriormente, seis dosis quincenales de 0,5 g/kg/día. Se recabaron datos como sexo, edad, inicio de padecimiento y exámenes de laboratorio, que incluyeron Ig en sangre y líquido cefalorraquídeo (LCR). Resultados. Fueron cuatro niñas con SW sintomático y un niño con SLG sintomático a neuroinfección. La edad de inicio al tratamiento fue de 8-14 meses de edad; los espasmos variaron de 204 a 1.074 en 24 h, con reducción importante después de administrar IgIV. La IgG se incrementó en LCR con relación a la disminución en el número de las crisis (p< 0,05). Discusión. La respuesta al tratamiento es satisfactoria, como se ha observado en otras publicaciones; es un tratamiento coadyuvante en casos de difícil control y también puede utilizarse en casos de epilepsia sintomática, con respuesta adecuada (AU)

[Migraine in pregnancy]. / Migraña en el embarazo.

UNLABELLED: Migraine is a very common disturbance in women. frequency appears up to 18%, higher prevalence is between 20-50 years old and hormonal changes affect it along reproductive era. Physicians are concerned when migraine occurs or worse on pregnancy because of the potential effects of therapeutic measures on pregnancy or even in the child. OBJECTIVE: A review about definition, classification and theories to explain migraine, its effect on pregnancy and to set guidelines for the treatment during pregnancy and lactation. There are two theories to explain migraine: vascular and neurogenic. Pregnancy as a modifier of migraine features is a common belief.