Neuropathologic examination of two autopsied patients with Jarcho-Levin syndrome showed no pathologic changes in the brain, spinal cord, or nerve roots of one and diastematomyelia of the thoracolumbar spinal cord in the other. The abnormalities of the spinal cord in one of our patients and in another patient described in the literature establish neural defects as a component of the Jarcho-Levin syndrome.
Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red fibers in the muscle biopsy. We identified five pathogenic mutations in SURF1: two mutations were novel, an in-frame nonsense mutation (834G-->A) and an out-of-frame duplication (820-824dupTACAT). Although renal manifestations have not been described in association with SURF1 mutations, they can be part of the clinical presentation. Likewise, mitochondrial proliferation in muscle (with ragged red fibers) is most unusual in Leigh disease but might be part of an emerging phenotype.
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