Article
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Neuropediatrics - 1 Jun 2008
Zafeiriou D I, Rodenburg R J T, Scheffer H, van den Heuvel L P, Pouwels P J W, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap M S
Abstract excerpt
We present clinical, magnetic resonance imaging and MR spectroscopic findings of a female patient, first admitted at the age of 9 months for regression of motor milestones and signs of mild spastic diplegia. Magnetic resonance imaging (MRI) demonstrated periventricular white matter abnormalities with sparing of the subcortical white matter. Subsequent MRIs, performed at the ages of 13 and 16 months, demonstrated...
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