RESUMEN
We present six patients with acquired aphasia with convulsive disorder (Landau-Kleffner syndrome) and distill the main clinical features from a review of the recent literature. Our series showed that the clinical picture can vary at onset, as well as during the course of the illness, and that the long-term outcome of the aphasia is quite unpredictable, despite the fact that epilepsy and electroencephalographic abnormalities usually regress or disappear with the years. We also call attention to the electroencephalographic phenomenon of electrical status epilepticus during slow sleep, and we suggest that the course of the aphasia may well be linked to the appearance and disappearance of electrical status epilepticus during slow sleep. Therefore, we recommend a sleep electroencephalogram in all children with Landau-Kleffner syndrome. Finally, our findings did not demonstrate the beneficial effect of treatment with anticonvulsants on the aphasia, but recent studies have shown that treatment with corticosteroids, whether combined with anticonvulsants, is effective.
Asunto(s)
Afasia , Convulsiones , Afasia/etiología , Afasia/terapia , Encéfalo/fisiopatología , Preescolar , Electroencefalografía , Epilepsia/etiología , Epilepsia/terapia , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos Mentales , Convulsiones/etiología , Convulsiones/terapia , SíndromeRESUMEN
Three girls aged 9 to 11 years developed fluent aphasia associated with acute brain lesions. As localized by computed tomography, the abnormalities in all three resided in the posterior part of the left hemisphere, encroaching upon Wernicke's area.
Asunto(s)
Afasia de Wernicke/etiología , Afasia/etiología , Lóbulo Temporal , Afasia de Wernicke/diagnóstico por imagen , Conmoción Encefálica/complicaciones , Hemorragia Cerebral/complicaciones , Niño , Femenino , Hematoma/complicaciones , Humanos , Fracturas Craneales/complicaciones , Lóbulo Temporal/lesiones , Tomografía Computarizada por Rayos XAsunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo III/orina , Enfermedad del Almacenamiento de Glucógeno Tipo II/orina , Enfermedad del Almacenamiento de Glucógeno/orina , Oligosacáridos/orina , Adulto , Anciano , Niño , Preescolar , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Enfermedad del Almacenamiento de Glucógeno Tipo III/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo III/genética , Heterocigoto , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Terapia Enzimática , Errores Innatos del Metabolismo/tratamiento farmacológico , Ensayos Clínicos como Asunto , Gangliosidosis/tratamiento farmacológico , Enfermedad de Gaucher/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Hexosaminidasas/uso terapéutico , Humanos , Iduronidasa/uso terapéutico , Leucodistrofia Metacromática/tratamiento farmacológico , Hígado/metabolismo , Mucopolisacaridosis/tratamiento farmacológico , alfa-Glucosidasas/uso terapéuticoRESUMEN
(1) A simple method is described for the isolation of the lysosomal enzyme, acid alpha-glucosidase (alpha-D-glucoside glucohydrolase, EC 3.2.1.20) from normal human liver. Antibodies raised against the purified enzyme were immobilized by covalent coupling to Sepharose 4B. (2) Acid alpha-glucosidase can be quantitatively removed from normal urine by incubating with an excess of immobilized antibody. With p-nitrophenyl-alpha-glucoside as substrate, acid alpha-glucosidase accounts for 91 +/- 3% of the total alpha-glucosidase activity at pH 4.0 IN Normal urine. (3) In urine from a patient with the infantile form of Pompe's disease ('acid maltase deficiency'), no alpha-glucosidase activity could be removed by the immobilized antibody, in agreement with the fact that acid alpha-glucosidase is absent in these patients. (4) In urine from patients with the late-onset form of Pompe's disease, 46 +/- 11% of the alpha-glucosidase activity at pH 4.0 can be removed by incubation with immobilized antibodies, indicating that residual acid alpha-glucosidase activity is present in urine of these patients. The residual acid alpha-glucosidase activity amounts to about 5% of that in the urine of control persons. (5) If acid alpha-glucosidase is adsorbed to immobilized antibodies, the activity can still be measured with p-nitrophenyl-alpha-glucoside as substrate. The Km for p-nitrophenyl-alpha-glucoside is not significantly changed by adsorbing purified acid alpha-glucosidase to immobilized antibodies. (6) The properties of acid alpha-glucosidase from urine of patients with late-onset Pompe's disease were compared with those of acid alpha-glucosidase from normal urine, both adsorbed to immobilized antiserum. The pH-activity profile of the enzyme from urine of patients with late-onset Pompe's disease can not be distinguished from that of the normal urinary enzyme. The Km for p-nitro-phenyl-alpha-glucoside of the two enzymes is identical, both at pH 4 and 3. The titration curves of the two enzymes with immobilized antibodies are identical.