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Cockayne syndrome: Unusual neuropathological findings and review of the literature
Author(s) -
Soffer Dov,
Grotsky Harold W.,
Rapin Isabelle,
Suzuki Kinuko
Publication year - 1979
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410060407
Subject(s) - pathology , globus pallidus , degeneration (medical) , atrophy , basal ganglia , microcephaly , cerebellum , white matter , cockayne syndrome , hydrocephalus , medicine , cerebral atrophy , neuroscience , central nervous system , psychology , biology , magnetic resonance imaging , pediatrics , surgery , nucleotide excision repair , gene , dna repair , radiology , biochemistry
Two siblings with Cockayne syndrome (CS) are described and the literature on the subject is briefly reviewed. Of particular interest were the unusual neuropathological findings in 1 of the patients. These included microcephaly, white matter atrophy with patchy loss of myelinated fibers, calcifications of the basal ganglia, occasional ferrugination of cerebral and cerebellar neurons, and severe cerebellar degeneration. Findings not previously reported in CS were proliferation of extremely bizarre astrocytes, neurofibrillary tangles, and pigmentation of the globus pallidus. We conclude that brain involvement in CS is a result of primary degeneration in the central nervous system rather than being secondary to angiopathy or normal pressure hydrocephalus, as previously suggested.