Pediatric Neurology Briefs (Apr 2005)

POLGI Mutations in Infantile Hepatocerebral Syndromes

  • J Gordon Millichap

DOI
https://doi.org/10.15844/pedneurbriefs-19-4-2
Journal volume & issue
Vol. 19, no. 4
pp. 26 – 27

Abstract

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Nine patients, 2 sibling pairs and 5 singleton cases, with POLGI mutations associated with infantile fatal encephalopathy and hepatopathy, 8 having typical Alpers’ syndrome (Alpers’ hepatopathic poliodystrophy) and one a severe floppy infant syndrome with hepatic failure, are reported from the National Institute of Neurology, Milano; Meyer Children’s Hospital, Florence; University of Verona; University Hospital, Monza, Italy; and University Children’s Hospital, Hamburg, Germany.

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