Cerebral white matter involvement in children with mitochondrial encephalopathies

I. Moroni, M. Bugiani, A. Bizzi, G. Castelli, E. Lamantea, G. Uziel

Research output: Contribution to journalArticle

Abstract

In childhood mitochondrial encephalopathies the common MRI features are bilateral symmetric abnormalities in basal nuclei and brainstem. The presence of diffuse white matter abnormality has been described only in a few cases. Among a series of 110 children with mitochondrial encephalopathies, 8 patients with MR imaging consistent with a leukoencephalopathy were retrospectively evaluated. Diagnosis was based on the recognition of the biochemical defect in muscle homogenate. H-MR spectroscopic imaging was performed in six of them. Biochemical analysis demonstrated a defect of respiratory chain complexes in six patients: complex 1 in two cases, complex II in two, complex IV in one, multiple complexes defect in one. Pyruvate dehydrogenase deficiency was demonstrated in two patients. MRI showed severe involvement of the brain white matter without significant basal nuclei or brainstem abnormalities. Two patients developed large cystic areas since onset; in two others progressive vacuolisation of affected white matter was seen later in the course of the disease. One patient with pyruvate dehydrogenase deficiency also presented with a diffuse cortical polymicrogyria. H-MR spectroscopic imaging showed a decrease of N-acetylaspartate, choline and creatine with lactate accumulation in five patients, and was normal in one. These findings suggest that mitochondrial disorders should be included in the differential diagnosis of white matter disorders.

Original languageEnglish
Pages (from-to)79-85
Number of pages7
JournalNeuropediatrics
Volume33
Issue number2
DOIs
Publication statusPublished - 2002

Fingerprint

Pyruvate Dehydrogenase Complex Deficiency Disease
Basal Ganglia
Brain Stem
Leukoencephalopathies
Mitochondrial Diseases
Creatine
Electron Transport
Choline
Mitochondrial encephalopathy
White Matter
Lactic Acid
Differential Diagnosis
Muscles
Brain

Keywords

  • H-MR Spectroscopic Imaging
  • Leukoencephalopathies
  • Mitochondrial Encephalopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Cerebral white matter involvement in children with mitochondrial encephalopathies. / Moroni, I.; Bugiani, M.; Bizzi, A.; Castelli, G.; Lamantea, E.; Uziel, G.

In: Neuropediatrics, Vol. 33, No. 2, 2002, p. 79-85.

Research output: Contribution to journalArticle

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AU - Uziel, G.

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