Mitochondrial disorders

Analysis of their clinical and imaging characteristics

A. J. Barkovich, W. V. Good, T. K. Koch, B. O. Berg

Research output: Contribution to journalArticle

248 Citations (Scopus)

Abstract

PURPOSE: Investigation of the clinical, imaging, and in vivo MR spectroscopy (MRS) characteristics of disorders of mitochondrial function. METHODS: Clinical, imaging (five CT and 20 MR examinations), and MRS (six studies in five patients) findings in 19 patients with mitochondrial disorders were retrospectively reviewed. Results were critically analyzed and, when applicable, compared with results in the literature. RESULTS: Patients included four with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS), two with myoclonus, epilepsy, and ragged red fibers (MERRF), two with Kearns-Sayre syndrome, seven with Leigh syndrome, one with progressive cerebral poliodystrophy (Alpers syndrome), and three with trichopoliodystrophy (Menkes disease). MELAS, MERRF, and Kearns- Sayre tended to occur in older children and adults, whereas Leigh syndrome, Alpers syndrome, and Menkes disease occurred in infants and young children. All diseases involved gray matter early in their course, manifest primarily as T2 prolongation, with the deep cerebral nuclei being involved more often than the cerebral cortex. When T2 prolongation was seen in the white matter (MELAS, MERRF, Kearns-Sayre, Leigh), the peripheral and retrotrigonal white matter showed early involvement. Patients with Menkes disease showed rapidly progressive atrophy accompanied by large subdural hematomas. Proton MRS showed an elevated lactate level in involved regions of the brain; the lactate peak disappeared in old areas of T2 prolongation. CONCLUSIONS: Mitochondrial disorders have a wide range of both clinical and imaging findings. Although no one set of findings is diagnostic of these disorders, the combination of deep gray matter involvement and peripheral white matter involvement in young adults or children should suggest the diagnosis, especially when associated with an elevated lactate level on proton MRS.

Original languageEnglish (US)
Pages (from-to)1119-1137
Number of pages19
JournalAmerican Journal of Neuroradiology
Volume14
Issue number5
StatePublished - 1993
Externally publishedYes

Fingerprint

Mitochondrial Diseases
Diffuse Cerebral Sclerosis of Schilder
Menkes Kinky Hair Syndrome
Lactic Acidosis
Magnetic Resonance Spectroscopy
Myoclonic Epilepsy
Lactic Acid
Stroke
Protons
MERRF Syndrome
Kearns-Sayre Syndrome
Leigh Disease
Subdural Hematoma
Cerebral Cortex
Atrophy
Young Adult
Brain
Mitochondrial encephalopathy
White Matter
Gray Matter

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Barkovich, A. J., Good, W. V., Koch, T. K., & Berg, B. O. (1993). Mitochondrial disorders: Analysis of their clinical and imaging characteristics. American Journal of Neuroradiology, 14(5), 1119-1137.

Mitochondrial disorders : Analysis of their clinical and imaging characteristics. / Barkovich, A. J.; Good, W. V.; Koch, T. K.; Berg, B. O.

In: American Journal of Neuroradiology, Vol. 14, No. 5, 1993, p. 1119-1137.

Research output: Contribution to journalArticle

Barkovich, AJ, Good, WV, Koch, TK & Berg, BO 1993, 'Mitochondrial disorders: Analysis of their clinical and imaging characteristics', American Journal of Neuroradiology, vol. 14, no. 5, pp. 1119-1137.
Barkovich, A. J. ; Good, W. V. ; Koch, T. K. ; Berg, B. O. / Mitochondrial disorders : Analysis of their clinical and imaging characteristics. In: American Journal of Neuroradiology. 1993 ; Vol. 14, No. 5. pp. 1119-1137.
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