Skin punch biopsies and lymphocytes in the diagnosis of lipidoses.
Skin punch biopsies and buffy 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 adreno-leucodystrophy. 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.
D000293:Adolescent; D000328:Adult; D001706:Biopsy / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis; D008064:Lipidoses / Q000175:diagnosis* / Q000473:pathology; D008062:Lipofuscin; D008214:Lymphocytes / Q000648:ultrastructure*; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis; D012867:Skin / Q000473:pathology*
D008062:Lipofuscin