Acta Neuropathologica

, Volume 108, Issue 2, pp 168–171

Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

  • Massimiliano Filosto
  • Michelangelo Mancuso
  • Giuliano Tomelleri
  • Nicolo’ Rizzuto
  • Bernardo Dalla Bernardina
  • Salvatore DiMauro
  • Alessandro Simonati
Case Report

DOI: 10.1007/s00401-004-0872-9

Cite this article as:
Filosto, M., Mancuso, M., Tomelleri, G. et al. Acta Neuropathol (2004) 108: 168. doi:10.1007/s00401-004-0872-9

Abstract

Focal spongy degeneration of the white matter and Purkinje cell loss were the neuropathological hallmarks in an infant with hepato-cerebral syndrome and a 4-bp GATT duplication (nucleotides 763–766) in exon 6 of the dGK gene. Liver disease became manifest in the first months of life and was followed by progressive cirrhosis and death at 31 months. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement.

Keywords

dGK mutationNeuropathologyHepato-cerebral syndrome

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Massimiliano Filosto
    • 1
    • 3
  • Michelangelo Mancuso
    • 3
  • Giuliano Tomelleri
    • 1
  • Nicolo’ Rizzuto
    • 1
  • Bernardo Dalla Bernardina
    • 2
  • Salvatore DiMauro
    • 3
  • Alessandro Simonati
    • 1
  1. 1.Department of Neurological and Visual Sciences, Section of NeurologyUniversity of Verona, Policlinico GB RossiVeronaItaly
  2. 2.Department of Mother and Child and Genetics, Section of Child Neurology and PsychiatryUniversity of VeronaVeronaItaly
  3. 3.Department of NeurologyColumbia University College of Physicians and SurgeonsNew YorkUSA