Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

Pascale De Lonlay-Debeney, Jürgen Christoph Von Kleist-Retzow, Lucie Hertz-Pannier, Sylviane Peudenier, Valérie Cormier-Daire, Patrick Berquin, Dominique Chrétien, Agnès Rötig, Jean Marie Saudubray, Jeanine Baraton, Francis Brunelle, Pierre Rustin, Marjo Van Der Knaap, Arnold Munnich*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood.

Original languageEnglish
Pages (from-to)209-214
Number of pages6
JournalJournal of Pediatrics
Issue number2
Publication statusPublished - 2000

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