D Terespolsky, J T Clarke, S I Blaser
Department of Pediatrics and Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Journal of inherited metabolic disease 1996We 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.
D Terespolsky, J T Clarke, S I Blaser. Evolution of the neuroimaging changes in fucosidosis type II. Journal of inherited metabolic disease. 1996;19(6):775-81
PMID: 8982951
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