RESUMO
Kufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic. The first clinical manifestations occurred before 20 years of age. Diagnosis was made in the older brother at autopsy and in the younger brother from a rectal biopsy. In addition to characteristic electron microscopic findings, enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid-lipofuscinosis. An extensive review of the published cases underlines the rarity of this condition, particularly when onset is early.
Assuntos
Epilepsias Mioclônicas Progressivas/complicações , Epilepsias Mioclônicas Progressivas/patologia , Lipofuscinoses Ceroides Neuronais/complicações , Lipofuscinoses Ceroides Neuronais/patologia , Adulto , Idade de Início , Encéfalo/patologia , Encéfalo/fisiopatologia , Encéfalo/ultraestrutura , Diagnóstico Diferencial , Progressão da Doença , Humanos , Masculino , Microscopia Eletrônica , Epilepsias Mioclônicas Progressivas/genética , Lipofuscinoses Ceroides Neuronais/genética , Neurônios/patologia , Neurônios/ultraestrutura , Resultado do TratamentoRESUMO
Corneofungimetry is a bioassay in dermatomycology evaluating the antifungal effect of drugs. It is based on the method of culture of fungi on human stratum corneum harvested by cyanoacrylate skin surface strippings. Using corneofungimetry, it is possible to establish a classification of topical antifungals according to their spectrum of activity and their fungitoxicity. Similarly, the potency of oral antifungals can be evaluated at the level of the stratum corneum.