Control de la epilepsia en niños y adolescentes con parálisis cerebral con respecto a la etiología y la lesión cerebral de base / Control of epilepsy in children and adolescents suffering from cerebral palsy, with respect to their etiology and cerebral lesion background

Introducción. La epilepsia en niños con parálisis cerebral (PCI) constituye un problema de salud pública, con una prevalencia de 750/1.000. Objetivo. Describir la relación entre la etiología de parálisis cerebral y la lesión cerebral de base en el control de epilepsia. Pacientes y métodos. Estudio retrospectivo que incluyó a 398 pacientes de ambos géneros menores de 18 años, con diagnóstico de PCI. Para el análisis comparativo se incluyeron dos aspectos principales: la etiología de la PCI y la lesión cerebral de base mediante estudio tomográfico. La etiología se subdividió en: encefalopatía hipoxicoisquémica (EHI), malformación cerebral (MC) y otras causas (O). Las lesiones cerebrales se clasificaron en: lesión cerebral difusa (LCD), lesión focal (LF), lesión de ganglios basales (LGB), disgenesia cerebral (DC), hidrocefalia (H) y normal (N). El impacto sobre las crisis epilépticas se determinó de acuerdo con la lesión cerebral de base y con su etiología. Resultados. Los hallazgos obtenidos con la evaluación clínica y el análisis estadístico permiten afirmar que el control de las crisis epilépticas, basándose en su etiología, en los diferentes subgrupos fue: EHI: 77,9%, MC: 72%, O: 86%, sin significación estadística (p = 0,28). En la lesión cerebral encontramos: LCD: 70,7%, LF: 82,4%, LGB: 87,5%, DC: 79,3%, H: 77,8%, N: 83,3%, con significación estadística en este subgrupo (p < 0,04). Conclusión. El tipo de lesión cerebral en niños con PCI tiene un valor pronóstico en el control de epilepsia independientemente de su etiología

Introduction. Epilepsy in children with cerebral palsy is a very important problem of public health, with a prevalence 750/1,000. Aim. To describe the relationship between cerebral palsy-etiologies and the cerebral injuries in the epilepsy control. Patients and methods. Retrospective study included 398 subjects, both genders, subjects under 18 years old with evidence of epilepsy related to infantile cerebral palsy (ICP). For comparison analysis purposes the entire population was studied on two principally aspects: ICP based on its etiology, and ICP based on cerebral injury background by means of computer tomography (CT). The etiology was subdivided into: hypoxic-ischemic encephalopathy (HIE), cerebral malformation (CM), and others causes (O). Cerebral lesions were classified into: diffuse cerebral injury (DCI), focal location injury (FLI), basal ganglia injury (BGI), cerebral dysgenesia (CD), hydrocephaly (H) and non-CT evidence (N). The impact of the epileptic seizures was determined according to the cerebral injury background and its etiology. Results. The findings after clinical surveillance and statistical analysis were able to affirm that seizures control with respect to etiology was: HIE: 77.9%, CM: 72%, O: 86% without statistical significance (p = 0.28). We found in the cerebral lesion: DCI: 70.7 %, FLI: 82.4%, BGI: 87.5%, CD: 79.3%, H: 77.8%, N: 83.3%, statistical significance was found in these subgroups (p < 0.04). Conclusion. Cerebral injury in children suffering from cerebral has a prognostic reliance value in the control of epilepsy, regardless its etiology

[Control of epilepsy in children and adolescents suffering from cerebral palsy, with respect to their etiology and cerebral lesion background]. / Control de la epilepsia en niños y adolescentes con parálisis cerebral con respecto a la etiología y la lesión cerebral de base.

INTRODUCTION: Epilepsy in children with cerebral palsy is a very important problem of public health, with a prevalence 750/1,000. AIM. To describe the relationship between cerebral palsy-etiologies and the cerebral injuries in the epilepsy control. PATIENTS AND METHODS: Retrospective study included 398 subjects, both genders, subjects under 18 years old with evidence of epilepsy related to infantile cerebral palsy (ICP). For comparison analysis purposes the entire population was studied on two principally aspects: ICP based on its etiology, and ICP based on cerebral injury background by means of computer tomography (CT). The etiology was subdivided into: hypoxic-ischemic encephalopathy (HIE), cerebral malformation (CM), and others causes (O). Cerebral lesions were classified into: diffuse cerebral injury (DCI), focal location injury (FLI), basal ganglia injury (BGI), cerebral dysgenesia (CD), hydrocephaly (H) and non-CT evidence (N). The impact of the epileptic seizures was determined according to the cerebral injury background and its etiology. RESULTS: The findings after clinical surveillance and statistical analysis were able to affirm that seizures control with respect to etiology was: HIE: 77.9%, CM: 72%, O: 86% without statistical significance (p < 0.28). We found in the cerebral lesion: DCI: 70.7 %, FLI: 82.4%, BGI: 87.5%, CD: 79.3%, H: 77.8%, N: 83.3%, statistical significance was found in these subgroups (p < 0.04). CONCLUSION: Cerebral injury in children suffering from cerebral has a prognostic reliance value in the control of epilepsy, regardless its etiology.

[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)