RESUMO
There have been infrequent reports of cerebral lesions associated with progressive facial hemiatrophy. Six children with progressive facial hemiatrophy were evaluated. Four were referred for evaluation of neurological deficits: 2 with seizures, one with left hemiparesis and one with learning problems. The remaining 2 patients had only facial hemiatrophy. Cranial computed tomography (CT) in 5 patients revealed the bony and soft tissue defects, but cerebral calcifications were seen in only 3 patients. Cranial magnetic resonance imaging (MRI) demonstrated areas of increased signal in the ipsilateral white matter on T2 weighted images in all 5 patients with upper facial atrophy. Ipsilateral cerebral lesions with progressive facial hemiatrophy may be more common than once believed. MRI sometimes reveals abnormalities of the white matter even in patients without neurologic symptoms, and may be more sensitive than CT in the diagnostic evaluation of patients with progressive facial hemiatrophy.
Assuntos
Encéfalo/patologia , Hemiatrofia Facial/patologia , Adolescente , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Hemiatrofia Facial/diagnóstico , Hemiatrofia Facial/epidemiologia , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
The clinical and magnetic resonance imaging findings of a 14-year-old boy with Pearson syndrome are presented. The patient represents the oldest living survivor of the original four patients described by Pearson and associates. This syndrome has recently been found to be associated with an mtDNA deletion. The patient reported here has a deletion similar but not identical to that reported in the literature. Several mitochondrial myopathies have been associated with mtDNA deletions, with considerable overlap between and among the phenotypes and underlying mtDNA deletions. The same may well prove to be true for Pearson syndrome.
Assuntos
Agranulocitose/genética , Anemia Macrocítica/genética , Encéfalo/patologia , Deleção Cromossômica , DNA Mitocondrial/genética , Imageamento por Ressonância Magnética , Neutropenia/genética , Trombocitopenia/genética , Tremor/genética , Adolescente , Humanos , Masculino , Exame Neurológico , SíndromeRESUMO
Ophthalmoplegic migraine, headache associated with oculomotor nerve dysfunction, may present early in the pediatric age group. Two cases of ophthalmoplegic migraine in infants 5 and 7-months-old are presented and their clinical management discussed.
Assuntos
Transtornos de Enxaqueca , Oftalmoplegia , Fármacos do Sistema Nervoso Autônomo/uso terapêutico , Ciproeptadina/uso terapêutico , Feminino , Humanos , Lactente , Masculino , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/fisiopatologia , Nervo Oculomotor/fisiopatologia , Oftalmoplegia/tratamento farmacológico , Oftalmoplegia/fisiopatologia , Fenobarbital/uso terapêutico , Prednisona/uso terapêutico , Vasodilatadores/uso terapêuticoRESUMO
Brainstem auditory evoked responses (BAERs) were measured in pediatric patients with neurologic diseases. Abnormalities of interwave intervals, amplitude ratios, and response to changing rate of stimulation were found in patients with tumors, myelin disorders, anoxic-ischemic encephalopathy, trauma, and neurodegenerative disorders. Reversibility of brainstem abnormalities (excluding multiple sclerosis) and sensitivity to toxic-metabolic disorders are features of the response not previously described in adults with neurologic disorders. The BAER is a promising new tool for the investigation of pediatric neurologic disease.
Assuntos
Tronco Encefálico/fisiopatologia , Potenciais Evocados Auditivos , Doenças do Sistema Nervoso/diagnóstico , Adulto , Infecções Bacterianas/diagnóstico , Lesões Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico , Criança , Pré-Escolar , Doenças Desmielinizantes/diagnóstico , Eletroencefalografia , Humanos , Hipóxia Encefálica/diagnóstico , Lactente , Recém-Nascido , Masculino , Esclerose Múltipla/diagnósticoRESUMO
We studied five patients with paroxysmal kinesigenic choreoathetosis (PKC) to evaluate the minimum effective plasma concentration of phenytoin. In two children, the minimum concentration necessary to control symptoms approximated the concentrations necessary to control epileptic seizures. In three adults, symptoms were controlled with concentrations of phenytoin well below the therapeutic range of phenytoin in epilepsy. These findings suggest an age-dependent change in the disease state, and support the concept that the clinical course of PKC may be explained by delayed maturation of extrapyramidal systems.
