This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal

A Comparison With Leukocyte Peroxidase Assay

Donald F. Farrell, MD; S. Mark Sumi, MD

Arch Neurol. 1977;34(1):39-44.

Abstract
• Electron microscopical examination of skin punch biopsy specimens was compared with the leukocyte peroxidase assay in establishing the diagnosis of juvenile neuronal ceroid-lipofuscinosis in three families with at least one affected child. Although the leukocyte peroxidase assay failed to distinguish between the patients, heterozygotes, and normal subjects, skin biopsy specimens containing characteristic cytosomes were found only in the children with this disease. In fact, in two families, the three affected members were identified by this method after the biopsy specimens had been randomized. Although only one to four cells containing such cytosomes were identified in each patient, not only cytosomes with curvilinear bodies but also those with rectilinear as well as "fingerprint" profiles were found. Thus, the skin punch biopsy appears to be a useful diagnostic aid in the juvenile as well as the late infantile forms of neuronal ceroid-lipofuscinosis.

Author Affiliations
From the Division of Neurology, Department of Medicine (Drs Farrell and Sumi) and Laboratory of Neuropathology, Department of Pathology (Dr Sumi), University of Washington School of Medicine, Seattle.

Footnotes
Accepted for publication June 3, 1976.

Reprint requests to Division of Neurology (RG20), University of Washington School of Medicine, Seattle, WA 98195 (Dr Farrell).