Document Detail


Congenital Leigh's disease: panencephalomyelopathy and peripheral neuropathy.
MedLine Citation:
PMID:  6236667     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
R J Seitz; K Langes; H Frenzel; G Kluitmann; W Wechsler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neuropathologica     Volume:  64     ISSN:  0001-6322     ISO Abbreviation:  Acta Neuropathol.     Publication Date:  1984  
Date Detail:
Created Date:  1984-10-25     Completed Date:  1984-10-25     Revised Date:  2007-11-09    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  167-71     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Brain / pathology*
Brain Diseases / congenital*
Cardiomegaly / pathology
Demyelinating Diseases / congenital
Female
Humans
Infant, Newborn
Mitochondria, Heart / ultrastructure
Necrosis
Peripheral Nerves / pathology*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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