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Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.

Abstract
Infants with subacute necrotizing encephalopathy or Leigh's encephalopathy usually are first examined before the age of 2 years with degenerative neurologic disease with variable clinical appearance. Necrotizing lesions of the CNS occur with special predilection of the gray matter. Biochemical defects of thiamine triphosphate associated with an inhibitor of the enzyme thiamine pyrophosphate-adenosine triphosphate phosphoryltransferase and deficiency of the enzyme pyruvate carboxylase have been found. Progressive neurologic deterioration and death occurred in an infant with pyruvate carboxylase deficiency. Pathologic studies showed extensive necrotizing areas of the gray matter, mamillary bodies, and midbrain and basal ganglia. Biochemical studies on the liver confirmed a deficiency of pyruvate carboxylase.
AuthorsE F Gilbert, S Arya, R Chun
JournalArchives of pathology & laboratory medicine (Arch Pathol Lab Med) Vol. 107 Issue 4 Pg. 162-6 (Apr 1983) ISSN: 0003-9985 [Print] United States
PMID6402999 (Publication Type: Case Reports, Journal Article)
Topics
  • Brain (pathology)
  • Brain Diseases (enzymology, pathology)
  • Female
  • Humans
  • Infant
  • Necrosis
  • Pyruvate Carboxylase Deficiency Disease

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