RESUMO
Gaucher disease, in most cases, is the result of mutations in the beta-glucocerebrosidase gene. More than 150 such mutations have been identified so far. Mutation D409H is the second most frequent in Greek patients, accounting for 15.5% of all identified mutated alleles. D409H homozygosity has, so far, been associated with a unique type III subtype of Gaucher disease that is characterized by the presence of devastating valvular heart disease, oculomotor apraxia, and, sometimes, features normally associated with mucopolysaccharidoses or oligosaccharidoses. Common manifestations of Gaucher disease tend to be less evident or even absent. We report the first Greek patient bearing the D409H/D409H genotype with onset of the disease in the first months of life and a phenotype dominated by severe neurological involvement. Enzyme replacement therapy, while improving the hematological parameters and organomegaly, failed to improve or even arrest the neurological condition.
Assuntos
Doença de Gaucher/genética , Glucosilceramidase/genética , Doenças do Sistema Nervoso/enzimologia , Idade de Início , Terapia Enzimática , Enzimas/administração & dosagem , Saúde da Família , Evolução Fatal , Feminino , Doença de Gaucher/complicações , Glucosilceramidase/administração & dosagem , Glucosilceramidase/uso terapêutico , Grécia , Homozigoto , Humanos , Lactente , Mutação PuntualRESUMO
A boy, 4 years, 9 months of age, presented with acute hemiplegia, lethargy, ataxia, and dysarthria 24 hours prior to the eruption of typical varicella exanthem. Magnetic resonance imaging findings were typical of multiple cerebral ischemic infarcts. It is suggested that during the period of secondary viremia varicella zoster virus invaded the cerebral blood vessels causing vasculopathy and cerebrovascular infarcts.
Assuntos
Infarto Cerebral/diagnóstico , Varicela/diagnóstico , Exame Neurológico , Encéfalo/patologia , Ataxia Cerebelar/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XAssuntos
Anticonvulsivantes/efeitos adversos , Cromossomos Humanos/efeitos dos fármacos , Epilepsia/tratamento farmacológico , Epilepsia/genética , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Aberrações Cromossômicas , Feminino , Humanos , Lactente , Masculino , Troca de Cromátide IrmãRESUMO
We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regression and neurological involvement. This was combined with high residual arylsulphatase A activity in white blood cell homogenates even in the 0 degrees C incubation assay.