Fucosidosis: immunological studies and chronological neuroradiological changes

Abstract

A 3.5‐y‐old boy of Arabic origin had the clinical features of both type 1 and 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 paronychia and a periapical dental abscess. Investigation of his systemic immune function did not reveal a significant underlying defect, but subtle abnormalities, 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 addition to globus pallidus changes.

Anesthesia for Fucosidosis

“…For 44 patients with recorded age of death, 43 percent died before age 10 and 41 percent after age 20 (3). The two leading causes of death in fucosidosis are recurrent pulmonary infection and neurological deterioration (9). Postmortem examination of type 1 patients has revealed enlargement of the brain, heart, liver, spleen, and pancreas (10).…”