HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by WINTERS, P. R. Articles by ROSENBERG, R. N. Search for Related Content PubMed PubMed Citation Articles by WINTERS, P. R. Articles by ROSENBERG, R. N.

-L-iduronidase deficiency and possible Hurler-Scheie genetic compound

Clinical, pathologic, and biochemical findings

From the departments of Neurology (Drs. Winter, Molenich-Heetred, and Rosenberg), Medical Genetics (Dr. Harrod), and Pathology (Dr. Kirkpatrick), Southwestern Medical School, University of Texas Health Science Center at Dallas, Dallas.

The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler and Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of -L-iduronidase. We are reporting a patient with -L-iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler-Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25-year-old woman whose initial presentation was due to acute paranola and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

Requests for reprints should be addressed to Dr. Rosenberg, Department of Neurology, Southwestern Medical School, University of Texas Health Science Center at Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75235.

Received for publication January 21, 1976.