Two sibs with Cockayne syndrome and serious involvement of the peripheral nervous system were studied. Enzyme Arysulfatase A levels in both patients and their parents were within the normal range. These data, as well as the electron microscope analysis of a biopsy of peripheral nerve, seem to rule out the possibility that Cockayne syndrome is a metachromatic leukodystrophy.
|Translated title of the contribution||Cockayne syndrome. Description of two cases|
|Number of pages||12|
|Publication status||Published - 1976|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health