Presenterende symptomen bij het syndroom van Hurler: Handvatten voor een eerdere diagnose?

Research output: Contribution to journalArticle

Abstract

In this clinical case, the importance of early detection of Hurler syndrome for outcomes of stem cell transplantation in this patient population is illustrated. Nowadays, children with Hurler syndrome can be treated with stem cell transplantation, but the results largely depend on the moment of treatment. If the procedure is initiated in an early stage of disease, better results can be obtained. Therefore, early recognition of the disease is essential. In this study, the presenting symptoms of fifteen Dutch patients were studied. The median age of diagnosis was 10 months, but by timely recognition of typical facial features, macrocephaly, hepatosplenomegaly, and kyphosis all patients might have been diagnosed four months earlier on average.

Details

Authors
  • C. M.L. Touw
  • M. Aldenhoven
  • P. M. Van Hasselt
  • F. A. Wijburg
  • Q. Teunissen
  • A. T. Van Der Ploeg
  • M. F. Mulder
  • J. J. Boelens
  • T. J. De Koning
External organisations
  • University Medical Center Groningen
  • University Medical Center Utrecht
  • Academic Medical Center of University of Amsterdam (AMC)
  • Erasmus University Medical Center
  • Amsterdam UMC - Vrije Universiteit Amsterdam
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Pediatrics
Translated title of the contributionPresenting symptoms of Hurler's syndrome: Handles for an earlier diagnosis?
Original languageDutch
Pages (from-to)149-154
Number of pages6
JournalTijdschrift voor Kindergeneeskunde
Volume78
Issue number4
Publication statusPublished - 2010 Jan 1
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes