RESUMO
The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions. We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.
Assuntos
Disostoses/diagnóstico por imagem , Doenças por Armazenamento dos Lisossomos/diagnóstico , Mucopolissacaridoses/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Fucosidose/classificação , Fucosidose/diagnóstico , Fucosidose/patologia , Humanos , Lactente , Masculino , Mucolipidoses/classificação , Mucolipidoses/diagnóstico , Mucolipidoses/patologia , Radiografia , alfa-Manosidose/classificação , alfa-Manosidose/diagnóstico , alfa-Manosidose/patologiaRESUMO
The ocular histopathological and ultrastructural features of fucosidosis in a man who survived to the age of 25 years are reported. Virtually all of the cells of the eye contained cytoplasmic, membrane-bound, and confluent areas of fibrillogranular and multilaminated material. The most striking accumulations were present within the endothelial cells lining blood vessels and corneal endothelium, and the least amount was present in the uveal melanocytes.
