Fucosidosis: immunological studies and chronological neuroradiological changes

A 3.5-y-old boy of Arabic origin had the clinical features of both type 1 a nd type 2 fucosidosis, consistent with an intermediate form of the disease. The activity of his leucocyte alpha L-fucosidase was absent. He presented with recurrent sinopulmonary infection and otitis media in addition to paro nychia and a periapical dental abscess. Investigation of his systemic immun e function did not reveal a significant underlying defect, but subtle abnor malities, particularly of antibody production and secretory IgA, cannot be excluded. The cranial magnetic resonance images showed periventricular and subcortical white matter abnormalities and mild cortical atrophy in additio n to globus pallidus changes.