Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
de Lonlay-Debeney, P.; von Kleist-Retzow, J.C.; Hertz-Pannier, L.; Peudenier, S.; Cormier-Daire, V.; Berquin, P.; Chrétien, D.; Rötig, A.; Saudubray, J.M.; Baraton, J.; Brunelle, F.; Rustin, P.; Van Der Knaap, M.; Munnich, A.
Journal of Pediatrics 136(2): 209-214
2000
ISSN/ISBN: 0022-3476 PMID: 10657827 Document Number: 523421
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.