Abstract
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 |
|---|---|
| Original language | Italian |
| Pages (from-to) | 1597-1608 |
| Number of pages | 12 |
| Journal | Minerva Pediatrica |
| Volume | 28 |
| Issue number | 26 |
| Publication status | Published - 1976 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health