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Delayed Development of Disturbed Mucopolysaccharide Metabolism in a Hurler Variant
Jonathan H. Pincus, MD;
Joseph P. Rossi, MD;
Robert B. Daroff, MD
Arch Neurol. 1967;16(3):244-253.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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RECENTLY McKusick et al1 have drawn attention to the broad spectrum of clinical disorders which may be associated with defective metabolism of mucopolysaccharides and suggested that there exist at least five different but related clinical entities. The criteria which were used for this classification were based upon clinical and genetic data as well as the urinary excretion of abnormal amounts and types of mucopolysaccharide. Several cases were described which could not be classified but which showed features suggestive of one or more of the proposed categories. In the present report two siblings are presented and discussed who have manifested a condition characterized by progressive dementia associated with diffuse involvement of the reticuloendothelial system. This condition has been difficult to diagnose but has many features of the disorders attributed to deranged mucopolysaccharide metabolism. The delayed development of direct evidence of abnormal storage and excretion of mucopolysaccharides in these cases
. . . [Full Text PDF of this Article]
Author Affiliations
New Haven, Conn
From the departments of medicine (neurology) and pediatrics of the Yale University School of Medicine, New Haven, Conn. Dr. Daroff is presently a captain in the 935th Medical Detachment, US Army.
Footnotes
Submitted for publication Oct 25, 1966; accepted Nov 10.
Reprint requests to Section of Neurology, Yale University School of Medicine, 333 Cedar St, New Haven, Conn 06510 (Dr. Pincus).
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