Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-10

AUTHORS

Ulrike Reiss, Klaus Hofweber, Reinhard Herterich, Rüdiger Waldherr, Elisabeth Bohnert, Ernst Jung, Karl Schärer

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. More... »

PAGES

602-605

References to SciGraph publications

  • 1981-11. Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome in EUROPEAN JOURNAL OF PEDIATRICS
  • 1969-03. Cockayne's syndrome in ACTA NEUROPATHOLOGICA
  • 1988-06. Renal lesions in Cockayne syndrome in PEDIATRIC NEPHROLOGY
  • 1989-07. MRI in Cockayne syndrome type I in NEURORADIOLOGY
  • 1989-11. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome in HUMAN GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s004670050170

    DOI

    http://dx.doi.org/10.1007/s004670050170

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1044684991

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8897565


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