Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without alpha-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility, and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. alpha-L-Iduronidase activities in leucocytes and liver tissues were within the normal range or somewhat elevated.
Adolescent↗