Enfermedad de Marchiafava-Bignami en Uruguay / Marchiafava-Bignami disease in Uruguay

Introducción. La enfermedad de Marchiafava-Bignami(EMB) es una rara complicación del alcoholismo crónico, caracterizadapor desmielinización y necrosis del cuerpo callosoy usualmente con mal pronóstico. Actualmente, la tomografíacomputarizada (TC) y la resonancia magnética (RM)permiten diagnosticarla en vida.Casos clínicos. Describimos los dos primeros casos deEMB en Uruguay. La depresión de conciencia, la hipertonía ylos signos frontales fueron los signos clínicos dominantes.Un paciente asoció una neuropatía óptica. El otro caso presentóalteraciones neuropsiquiátricas, precediendo a la instalacióndel coma, y asociaba lesiones dérmicas pelagroides.La TC y RM evidenciaron lesiones de sustancia blanca localizadasfundamentalmente en el cuerpo calloso.Conclusiones. La potencial existencia de la EMB debeinvestigarse en todo paciente con alcoholismo crónico quese presente con síndrome confusional prolongado, estupor ocoma. La presencia de alteraciones neuropsiquiátricas puedeconstituir un pródromo, por lo cual deberían explorarse exhaustivamentelas funciones neurosicológicas, incluyendo labúsqueda de signos de desconexión interhemisférica. Laatenta observación del cuerpo calloso en la imagen es fundamentalpara el diagnóstico de esta enfermedad probablementesubdiagnosticada (AU)

Introduction. Marchiafava-Bignami disease (MBD)is a rare complication of chronic alcoholism characteri characterizedby demyelination and necrosis of the corpus callosumthat usually has a poor prognosis. It has an extensiveclinical spectrum presentation and can presently bediagnosed in vivo with the computed tomography (CT)and magnetic resonance imaging (MRI).Clinical cases. We describe two cases of MBD diseasewith fatal outcome that presented with acute onsetcoma. Impairment of consciousness, hypertonia, andfrontal release signs were the dominant clinical signs.One of the patients had optic neuropathy and the otherhad neuropsychiatric symptoms before onset of comaand pellagra-like skin lesion. The CT scan and MRI showedlesions of the white matter that were fundamentallyin the corpus callosum.Conclusions. The possibility of the existence of MBDshould be investigated in all patients with chronic alcoholismwho have prolonged confusional syndrome, stuporor coma. A prodromal stage with neuropsychiatricsymptoms should be thoroughly investigated with a neuropsychologicalexploration including interhemisphericdisconnection signs. Careful attention should be given tothe corpus callosum in the image for the diagnosis ofthis probably underdiagnosed disease (AU)

[Marchiafava-Bignami disease in Uruguay]. / Enfermedad de Marchiafava-Bignami en Uruguay.

INTRODUCTION: Marchiafava-Bignami disease (MBD) is a rare complication of chronic alcoholism characterized by demyelination and necrosis of the corpus callosum that usually has a poor prognosis. It has an extensive clinical spectrum presentation and can presently be diagnosed in vivo with the computed tomography (CT) and magnetic resonance imaging (MRI). CLINICAL CASES: We describe two cases of MBD disease with fatal outcome that presented with acute onset coma. Impairment of consciousness, hypertonia, and frontal release signs were the dominant clinical signs. One of the patients had optic neuropathy and the other had neuropsychiatric symptoms before onset of coma and pellagra-like skin lesion. The CT scan and MRI showed lesions of the white matter that were fundamentally in the corpus callosum. CONCLUSIONS: The possibility of the existence of MBD should be investigated in all patients with chronic alcoholism who have prolonged confusional syndrome, stupor or coma. A prodromal stage with neuropsychiatric symptoms should be thoroughly investigated with a neuropsychological exploration including interhemispheric disconnection signs. Careful attention should be given to the corpus callosum in the image for the diagnosis of this probably underdiagnosed disease.

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with prominent pyramidal and extrapyramidal symptoms, and long disease duration.

Linfoma primario del sistema nervioso central en un paciente con sida / Primary central nervous system lymphoma in patient with AIDS

Se presenta una caso clínico de linfoma primario del sistema nervioso central (LPSNC) en una paciente con infección por virus de la inmunodeficiencia humana (VIH) en estadio sida. En este caso particular se destaca la confirmación por histopatología mediante intervención neuroquirúrgica de una lesión ocupante de espacio (LOE), lo que permitió instalar tratamiento oncoespecífico y terapia antirretroviral, lográndose buena evolución clínica. El obejtivo de la presente comunicación es realizar una revisión y actualización bibliográfica del LPSNC en pacintes con VIH destacando principalmente el aporte de los métodos diagnósticos y terapéuticos.

[Cytomegalovirus encephalitis in an immunocompetent patient: clinical, neuropathological and ultrastructural analysis]. / Encefalitis a citomegalovirus en un paciente inmunocompetente: análisis clinico, neuropatologico y ultraestructural.

Cytomegalovirus encephalitis is rarely diagnosed in immunocompetent patients. It is more frequent among immunocompromised hosts. We present a case of a young male patient without evidence of immunosupression who had a cytomegalovirus encephalitis. The diagnosis was made by detection of viral DNA in cerebral tissue obtained by biopsy. Neuropathologic and ultrastructural changes are described and compared with the descriptions in immunocompromised patients.