Abstract
Jeune syndrome or Asphyxiating Thoracic Dystrophy presenting clinically with hepatic manifestations is rarely seen. Very few cases of liver involvement have been reported antemortem. The authors report a three-month-old child with Jeune syndrome who presented with prolonged neonatal cholestasis and normal stools.
References
Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caractere familial. Arch Fr Pédiatr. 1955;12:886–9.
Oberklaid R, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child. 1977;52:758–65.
Jones KL. Smith’s Recognizable patterns of Human Malformations. 5th ed. Philadelphia: Saunders Company; 1997. pp. 374–5.
Turkel SB, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet. 1985;22:112–8.
Whitley CB, Schwarzenberg SJ, Burke BA, et al. Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet Suppl. 1987;3:211–20.
Yerian LM, Brady L, Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis. 2003;23:195–200.
Pawlowska J, Dobrzanska A, Migdal M, et al. Cholestasis of different clinical severity in children with jeune syndrome. E&C Hepatology. 2007;3:41–4.
Labrune P, Fabre M, Trioche P, et al. Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. Am J Med Genet. 1999;87:324–8.
Contributions
SR wrote the manuscript and with BS reviewed the literature on the subject and worked up the case. PC guided the work up and provided the final approval of the case report. PC will also be the guarantor of the study.
Conflict of Interest
None.
Role of Funding Source
None.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Reddy, S.N., Seth, B.A. & Colaco, P. Jeune Syndrome with Neonatal Cholestasis. Indian J Pediatr 78, 1151–1153 (2011). https://doi.org/10.1007/s12098-011-0392-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-011-0392-2