Siblings with leukoencephalopathy.
Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency.
Breningstall
Galen N
GN
Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA. gbreningstall@gillettechildrens.com
Shoffner
John
J
Patterson
Richard J
RJ
D042967:Electron Transport Complex I / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D035781:Siblings
C112232:NDUFV1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I