Assuntos
Citrulinemia/complicações , Acidente Vascular Cerebral/etiologia , Citrulinemia/diagnóstico , Citrulinemia/genética , Citrulinemia/terapia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Mutação de Sentido Incorreto , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/terapiaAssuntos
Frutose/análogos & derivados , Transtornos de Enxaqueca/prevenção & controle , Fármacos Neuroprotetores/uso terapêutico , Adolescente , Criança , Doença Crônica , Medicina Baseada em Evidências/métodos , Feminino , Frutose/uso terapêutico , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , TopiramatoRESUMO
X-linked hereditary motor sensory neuropathy type 1 (CMTX 1) is caused by mutation in the GJB1 gene that codes for the connexin 32 protein. Central nervous system involvement with or without white matter changes on magnetic resonance imaging (MRI) has rarely been reported in this condition. We report the case of a 7-year-old, previously well male who presented with a stroke-like episode that manifested as left hemiparesis and dysphasia. An initial brain MRI showed white matter signal changes affecting the corpus callosum and periventricular areas with a posterior predominance. Our patient made a complete clinical recovery in 36 hours. Clinical examination at this stage showed no evidence of a peripheral neuropathy. A repeat brain MRI 6 weeks later showed almost complete resolution of the changes seen initially. Subsequent investigations showed a Val177Ala mutation in the GJB1 gene. This mutation has so far not been described in the Caucasian population and has been only described once before. Electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy in keeping with CMTX 1. Five months after the initial presentation our patient developed clinical evidence of a peripheral neuropathy in the form of absent ankle reflexes, weak dorsiflexors, and evertors of both feet.
Assuntos
Doença de Charcot-Marie-Tooth/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Acidente Vascular Cerebral/complicações , Encéfalo/patologia , Doença de Charcot-Marie-Tooth/patologia , Doença de Charcot-Marie-Tooth/fisiopatologia , Criança , Conexinas/genética , Diagnóstico Diferencial , Progressão da Doença , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Acidente Vascular Cerebral/patologia , Acidente Vascular Cerebral/fisiopatologia , População Branca/genética , Proteína beta-1 de Junções ComunicantesRESUMO
Enterobacter cloacae is a gram negative bacillus that is ubiquitous as a contaminant and a pathogen in adult, paediatric, and neonatal ICUs. Its transmission is almost exclusively nosocomial with community acquired infection reported rarely. We report a case of community acquired, rapidly progressive E. cloacae meningo-encephalitis in a neonate. A three-week-old term infant presented from home, having been discharged from hospital within two days of delivery. She rapidly progressed to multi-organ dysfunction. Initial CT of her brain showed evidence of severe hypoxic changes and herniation of the frontal lobes through the anterior fontanelle. Care was withdrawn 72 hours after admission. Post mortem examination confirmed E.cloacae meningo-encephalitis as a cause of her death. The baby had not been in a critical care environment at any time before admission, making it highly likely to have been a community acquired infection. Transmission of the organism may have been vertical as maternal transmission with intestinal colonization of neonates with E. cloacae has previously been reported. This case confirms that infection with E. cloacae should be included in the differential diagnosis of any severely ill neonate presenting from the community, and antimicrobial therapy should be optimized accordingly.
