Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid

Am J Med Genet. 1999 Dec 3;87(4):324-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u.

Abstract

Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it was recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood
  • Alanine Transaminase / drug effects
  • Aspartate Aminotransferases / blood
  • Aspartate Aminotransferases / drug effects
  • Asphyxia Neonatorum / complications*
  • Asphyxia Neonatorum / drug therapy
  • Asphyxia Neonatorum / pathology
  • Child
  • Child, Preschool
  • Cholagogues and Choleretics / therapeutic use
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Liver Diseases / complications*
  • Liver Diseases / drug therapy
  • Liver Diseases / pathology
  • Male
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / drug therapy
  • Osteochondrodysplasias / pathology
  • Treatment Outcome
  • Ursodeoxycholic Acid / therapeutic use
  • gamma-Glutamyltransferase / blood
  • gamma-Glutamyltransferase / drug effects

Substances

  • Cholagogues and Choleretics
  • Ursodeoxycholic Acid
  • gamma-Glutamyltransferase
  • Aspartate Aminotransferases
  • Alanine Transaminase