1/3. fucosidosis: immunological studies and chronological neuroradiological changes.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.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
2/3. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
3/3. Evolution of the neuroimaging changes in fucosidosis type II.We report on clinical and neuroradiological findings in two patients with fucosidosis type II; a 7-year-old Jordanian boy and a 3 1/2-year-old Anglo-Canadian girl. This rare, autosomal recessive disorder is caused by deficiency of lysosomal alpha-fucosidase and is manifested clinically by progressive mental and motor deterioration, coarse facies, growth retardation, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly and seizures. Cranial CT and magnetic resonance imaging showed density and signal abnormalities in the thalamus, globus pallidus and internal capsules bilaterally, as well as progressive CT density alterations in supratentorial white matter including the internal medullary laminae of the thalami and the internal capsules.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |