Pediatric Nephrology

, Volume 10, Issue 5, pp 602–605

Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome

  • Ulrike Reiss
  • Klaus Hofweber
  • Reinhard Herterich
  • Rüdiger Waldherr
  • Elisabeth Bohnert
  • Ernst Jung
  • Karl Schärer
Original Article

DOI: 10.1007/s004670050170

Cite this article as:
Reiss, U., Hofweber, K., Herterich, R. et al. Pediatr Nephrol (1996) 10: 602. doi:10.1007/s004670050170

Abstract

This report describes a boy with an atypical severe form of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.

Key words

Cockayne syndrome Nephrotic syndrome Focal glomerulosclerosi Adrenocortical failure Leukodystrophy 

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Ulrike Reiss
    • 1
  • Klaus Hofweber
    • 2
  • Reinhard Herterich
    • 2
  • Rüdiger Waldherr
    • 3
  • Elisabeth Bohnert
    • 4
  • Ernst Jung
    • 4
  • Karl Schärer
    • 1
  1. 1.Department of PediatricsUniversity of HeidelbergHeidelbergGermany
  2. 2.Children’s Hospital St. MarienLandshutGermany
  3. 3.Department of PathologyUniversity of HeidelbergHeidelbergGermany
  4. 4.Department of Dermatology, Mannheim Medical SchoolUniversity of HeidelbergMannheimGermany
  5. 5.Division of Pediatric NephrologyUniversity Children’s HospitalHeidelbergGermany

Personalised recommendations