RESUMO
We assessed the prevalence of Wernicke encephalopathy (WE) in all 657 cases suspected of Creutzfeldt-Jakob (CJD) referred from 2001 to 2006 to the French Neuropathology Network of CJD. Clinical, biological and imaging data were reviewed when the diagnosis of WE was made at autopsy. No CJD was found in five cases suspected of sporadic CJD. In these five cases, myoclonus had been observed in four, CSF 14-3-3 protein in two. In 14 other cases, WE was combined with CJD, 13 of which were sporadic. These belonged mainly to the molecular variants of sporadic CJD associated with a long duration of disease. This stresses the necessity of remaining alert to the diagnosis of WE when CJD is suspected.
Assuntos
Encéfalo/patologia , Síndrome de Creutzfeldt-Jakob/epidemiologia , Síndrome de Creutzfeldt-Jakob/patologia , Encefalopatia de Wernicke/epidemiologia , Encefalopatia de Wernicke/patologia , Proteínas 14-3-3/líquido cefalorraquidiano , Adulto , Idoso , Idoso de 80 Anos ou mais , Síndrome de Creutzfeldt-Jakob/diagnóstico , Diagnóstico Diferencial , Humanos , Pessoa de Meia-Idade , Mioclonia/epidemiologia , Mioclonia/patologia , Prevalência , Sistema de Registros , Fatores de Tempo , Encefalopatia de Wernicke/diagnóstico , Adulto JovemRESUMO
A chronic, bilateral, intra-cranial subdural hematoma was diagnosed in a 28 year old man. A standard diagnostic spinal tap had been performed 6 weeks before. There was no other etiologic factor. Intra-cranial subdural hematoma is a rare complication of either diagnostic, therapeutic, or accidental lumbar puncture. Extensive literature review disclosed the description of 49 other cases, including only 3 cases following a standard diagnostic lumbar puncture. Outcome was fatal in 9 of them. The possibility of an intra-cranial subdural hematoma has to be considered in case of prolonged or unusual headache following a lumbar puncture, even with a headache-free period, knowing the emergency of the surgical therapeutic procedure. The most likely mechanism is subdural venous bleeding induced by the chronic intracranial hypotension due to the persisting lumbar meningeal wound.
Assuntos
Lateralidade Funcional/fisiologia , Hematoma Subdural/etiologia , Punção Espinal/efeitos adversos , Adulto , Hematoma Subdural/diagnóstico , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
We report here a familial observation of metachromatic leukodystrophy (MLD) in 2 sisters. The very beginning, with only psychiatric manifestations at adolescence, could be precisely established. The evolution towards a dementia, and the evidence of a pyramidal syndrome oriented later towards a clearly organic disease. A very wide bilateral and symmetrical demyelination was shown by Magnetic Resonance imaging. The deficiency in arylsulfatase A activity oriented towards MLD which was confirmed by metachromatic deposits in the nerve biopsy. Molecular biology evidenced in the two, compound heterozygoty with both the classical mutation of the infantile form with loss of a splicing site at the level of intron 2, and the ileu > Ser 179 mutation frequent in adult forms.
Assuntos
Leucodistrofia Metacromática/genética , Idoso , Eletromiografia , Feminino , Heterozigoto , Humanos , Leucodistrofia Metacromática/diagnóstico , Imageamento por Ressonância Magnética , Mutação , Fatores de TempoRESUMO
Refsum's disease is an autosomal recessive disease caused by defective alpha-oxidation of phytanic acid. The usual clinical presentation is the association of retinitis pigmentosa, ataxia and chronic severe sensorimotor polyneuropathy. A case of mild purely sensory neuropathy in a 40-year-old patient associated to high CSF protein level led to the diagnosis of Refsum's disease. The paucity of sensory symptoms and signs of neuropathy contrasted with severe reduction of motor and sensory nerve conduction velocities and markedly signs of sensory neuropathy observed in the nerve biopsy. Typical ring-scotomas, retinitis pigmentosa, anosmia, deafness, and high plasma phytanic acid level were present in extensive examination. There was no other case in the family.
Assuntos
Doenças do Sistema Nervoso Periférico/etiologia , Transtornos Psicomotores/etiologia , Doença de Refsum/complicações , Adulto , Dieta , Humanos , Masculino , Nervo Musculocutâneo/patologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Doenças do Sistema Nervoso Periférico/terapia , Plasmaferese , Transtornos Psicomotores/fisiopatologia , Transtornos Psicomotores/terapia , Doença de Refsum/fisiopatologia , Doença de Refsum/terapiaRESUMO
The authors report the third published case of a Lhermitte-Duclos disease diagnosed preoperatively with the help of MRI, stressing its possible extension beyond the limits of the posterior fossa. The pertinent literature is reviewed concerning the clinical and radiological picture of this disease, as well as the different pathogenic hypothesis.