Abstract
Background/Purpose: In a female patient developmental regression occurred in the second year of life leading to spastic tetraparesis, dysphagia, optic atrophy and epilepsy. Imaging studies showed progressive leukodystrophy, brain and spinal atrophy, cerebral and cerebellar calcifications as well as lactate peak in MR spectroscopy. Electrophysiological studies showed pathologic evoked visual and somato-sensory potentials. Extensive diagnostics did not reveal causes for acquired or known genetic leukodystrophies. Respiratory chain analysis in muscle tissue showed diminished activities for complexes I, II/III and IV.
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