Breningstall Galen N, Shoffner John, Patterson Richard J
Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.
Semin Pediatr Neurol. 2008 Dec;15(4):212-5. doi: 10.1016/j.spen.2008.10.013.
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.
