RESUMEN
We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions. The course was progressive and led to death within 8 years. The pathological findings included bilateral and almost symmetrical lesions involving the thalami, the colliculi, and the pontine and medullar tegmentum, similar to the changes described in Leigh disease. Neuronal loss and gliosis were noted in the dentate nucleus and in the inferior olive, as in MERRF syndrome. Laminar necrosis of the cerebral cortex could have been due to episodes of severe hypotension before death. Cytochrome c oxidase deficiency was found in case 2. The enzyme deficiency was present in muscle and in fibroblasts in culture.
Asunto(s)
Encéfalo/patología , Epilepsias Mioclónicas/patología , Mitocondrias/patología , Niño , Deficiencia de Citocromo-c Oxidasa , Epilepsias Mioclónicas/genética , Humanos , Enfermedad de Leigh/genética , Enfermedad de Leigh/patología , Masculino , NecrosisRESUMEN
The authors report the case of a 22-year old man presenting with cerebrotendinous xanthomatosis who developed peripheral neuropathy. Nerve biopsy showed evidence of demyelination and remyelination, suggesting axonal degeneration. The neurological symptoms improved after treatment with chenodesoxycholic acid.
Asunto(s)
Encefalopatías/genética , Nervio Femoral , Enfermedades Musculares/genética , Tendones , Xantomatosis/genética , Adulto , Encefalopatías/complicaciones , Nervio Femoral/patología , Humanos , Masculino , Enfermedades Musculares/complicaciones , Enfermedades del Sistema Nervioso Periférico/etiología , Tendones/patología , Xantomatosis/complicacionesRESUMEN
We report the clinico-pathological case of a 3 year-old boy who presented with progressive unilateral exophthalmos for 6 months. There was a tuberculous meningitis and at post mortem examination an opto-chiasmatic tuberculoma with features of chronic inflammation, epithelioid cells, giant cells and a tuberculoma in the left insula with features of acute inflammation.
