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Kearns‐sayre syndrome with reduced plasma and cerebrospinal fluid folate
Author(s) -
Allen Richard J.,
DiMauro Salvatore,
Coulter David L.,
Papadimitriou Alexander,
Rothenberg Sheldon P.
Publication year - 1983
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.410130620
Subject(s) - cerebrospinal fluid , medicine , kearns–sayre syndrome , muscle biopsy , myopathy , white matter , brain biopsy , pathology , endocrinology , phenytoin , central nervous system , epilepsy , biopsy , magnetic resonance imaging , chemistry , mitochondrial dna , biochemistry , radiology , psychiatry , gene
Abstract A young woman with Kearns‐Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a “ragged red fiber” myopathy with reduced muscle carnitine and mitochondrial enzymes. Computed tomographic brain scans showed cerebral white matter hypodensities and bilateral calcification of the basal ganglia. The mechanism for the folate deficiency and altered ratio of plasma to cerebrospinal fluid folate is unknown, but the deficiency may be responsive to replacement therapy.