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Mannosidosis is a rare inborn error of metabolism characterized by deficiency of the lysosomal enzyme alpha-mannosidase and widespread storage of complex carbohydrate, which is enriched in mannose. Two affected unrelated males, aged 6 and 26 years, are reported. Both had a nonprogressive
Fucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme l-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of
West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has