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Skin Punch Biopsies and Lymphocytes in the Diagnosis of Lipidoses

Published online by Cambridge University Press:  18 September 2015

C.L. Dolman ,
P.M. MacLeod  and
E. Chang
C.L. Dolman*
Affiliation:
Departments of Pathology and Medical Genetics, the Vancouver General Hospital and the University of British Columbia, Canada
P.M. MacLeod
Affiliation:
Departments of Pathology and Medical Genetics, the Vancouver General Hospital and the University of British Columbia, Canada
E. Chang
Affiliation:
Departments of Pathology and Medical Genetics, the Vancouver General Hospital and the University of British Columbia, Canada
*
Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, B.C., Canada V5Z 1M9
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Skin punch biopsies and huffy coats of white blood cells were examined electron microscopically in patients suffering from a variety of storage diseases. No specific abnormalities could be detected in Gaucher’s disease and adrenoleucodystrophy. While characteristic deposits were found in cutaneous nerves in globoid and metachromatic leucodystrophy, this method was deemed inferior to sural nerve biopsy. In gangliosidoses, on the other hand, pathognomonic membranous cytoplasmic bodies were common in axons of cutaneous nerves, and in generalized gangliosidoses marked vacuolation of many other cells was prominent. Specific deposits were found in various cells in skin punch biopsies and in lymphocytes of children suffering from ceroid lipofuscinoses, and in lymphocytes of their parents. This constitutes the easiest diagnostic laboratory procedure in such cases.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 2 , Issue 1 , February 1975 , pp. 67 - 73
Copyright
Copyright © Canadian Neurological Sciences Federation 1975

References

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