Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy |
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Authors: | R. J. Seitz K. Langes H. Frenzel G. Kluitmann W. Wechsler |
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Affiliation: | (1) Neuropathologisches Institut der Universität Düsseldorf, Moorenstraße 5, D-4000 Düsselorf 1, Germany;(2) Pathologisches Institut der Universität Düsseldorf, Moorenstraße 5, D-4000 Düsselorf 1, Germany;(3) Kinderklinik, Lucas-Krankenhaus, Neuss, Akademisches Lehrkrankenhaus der Universität Düsseldorf, Preussenstraße 84, D-4040 Neuss, Germany |
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Abstract: | Summary A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex, basal ganglia, mesencephalon and spinal cord. In addition, there was severe leukoencephalopathy of the cerebral hemispheres with sudanophilic tissue degregation, advanced axonal loss and reactive astrocytic gliosis. There was marked demyelination of the sciatic nerves. Electron-microscopical examination of the hypertrophic heart revealed pathological mitochondria with tubular inclusions suggestive of primary mitochondrial cardiomyopathy. Similar mitochondrial changes were not detected in the CNS and PNS. The complex of neuropathological alterations in this case is nevertheless consistent with a congenital variant of Leigh's disease. |
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Keywords: | Congenital Leigh's disease Panencephalomyelopathy Peripheral neuropathy Mitochondriopathies |
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