Leukoencephalopathy in Oculocraniosomatic Neuromuscular Disease with Ragged-Red Fibers

Mitochondrial Abnormalities Demonstrated by Computerized Tomography

Tulio Bertorini, W. King Engel, Giovanni Chiro, Marinos Dalakas

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

In a group of 13 patients affected by oculocraniosomatic neuromuscular disease with mitochondrial abnormalities and ragged-red fibers, a major, diffuse leukoencephalopathic process was recognized by computerized tomography (CT) in three cases. Clinically, these three patients were the most severely affected. The areas involved by the leukoencephalopathic process did not show enhancement after contrast medium injection. In several of the remaining ten cases, various forms and grades of CSF cavity dilation were encountered. Four of the 13 patients had very high CSF protein levels, three had CT-demonstrated leukoencephalopathy, and the fourth had substantial sulcal dilation. The CT findings in this group of patients corresponded well to the previously reported histopathological observations and indicated the clinical usefulness of CT in identifying brain involvement in this syndrome.

Original languageEnglish (US)
Pages (from-to)643-647
Number of pages5
JournalArchives of Neurology
Volume35
Issue number10
DOIs
StatePublished - Jan 1 1978
Externally publishedYes

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Leukoencephalopathies
Neuromuscular Diseases
Tomography
Dilatation
Contrast Media
Injections
Neuromuscular Disease
Fiber
Computerized Tomography
Brain
Proteins

All Science Journal Classification (ASJC) codes

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Leukoencephalopathy in Oculocraniosomatic Neuromuscular Disease with Ragged-Red Fibers : Mitochondrial Abnormalities Demonstrated by Computerized Tomography. / Bertorini, Tulio; Engel, W. King; Chiro, Giovanni; Dalakas, Marinos.

In: Archives of Neurology, Vol. 35, No. 10, 01.01.1978, p. 643-647.

Research output: Contribution to journalArticle

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