Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.
A deficiency of succinate dehydrogenase is a rare cause of mitochondrial encephalomyopathy. Three patients, 2 sisters and 1 boy from an unrelated family, presented with symptoms and magnetic resonance imaging signs of leukoencephalopathy. Localized proton magnetic resonance spectroscopy indicated a prominent singlet at 2.40ppm in cerebral and cerebellar white matter not present in gray matter or basal ganglia. The signal was also elevated in cerebrospinal fluid and could be identified as originating from the two equivalent methylene groups of succinate. Subsequently, an isolated deficiency of complex II (succinate:ubiquinone oxidoreductase) was demonstrated in 2 patients in muscle and fibroblasts. One of the sisters died at the age of 18 months. Postmortem examination showed the neuropathological characteristics of Leigh syndrome. Her younger sister, now 12 months old, is also severely affected; the boy, now 6 years old, follows a milder, fluctuating clinical course. Magnetic resonance spectroscopy provides a characteristic pattern in succinate dehydrogenase deficiency.
Department of Pediatrics and Neuropediatrics, Children's Hospital, University of Göttingen, Göttingen, Germany. kbrock@med.uni-goettingen.de
Knut
K
Brockmann
Alf
A
Bjornstad
Peter
P
Dechent
Christoph G
CG
Korenke
Jan
J
Smeitink
J M Frans
JM
Trijbels
Sabine
S
Athanassopoulos
Rafael
R
Villagran
Ola H
OH
Skjeldal
Ekkehard
E
Wilichowski
Jens
J
Frahm
Folker
F
Hanefeld
D001921:Brain / Q000201:enzymology / Q000473:pathology; D002648:Child; D015140:Dementia, Vascular / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D042963:Electron Transport Complex II; D005260:Female; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D011522:Protons; D013385:Succinate Dehydrogenase / Q000172:deficiency* / Q000235:genetics
D009097:Multienzyme Complexes; D011522:Protons; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase