Document Detail

Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients.
MedLine Citation:
PMID:  1371465     Owner:  NLM     Status:  MEDLINE    
Peroxisomal disorders are genetic diseases in which an impairment in one or more peroxisomal function(s) causes clinical and multiple biochemical abnormalities. Early recognition of the major peroxisomal disorders in which functional peroxisomes are virtually absent, leading to a generalised impairment of peroxisomal functions, is of utmost importance, as this will enable the prenatal diagnosis of these severe diseases in future pregnancies. Unfortunately, clinical recognition of these disorders can be difficult because of the aspecific and varying phenotypic presentation. We analysed the clinical characteristics in 40 patients suspected of having a peroxisomal disorder to identify specific clinical criteria for diagnosis. From this study we conclude that the combined presence of at least three major clinical characteristics (present in greater than 75% of the affected patients, including psychomotor retardation, hypotonia, impaired hearing, low/broad nasal bridge, abnormal ERG, hepatomegaly) and one or more minor characteristics (present in 50%-75% of the patients, like large fontanelles, shallow orbital ridges, epicanthus, anteverted nostrils, retinitis pigmentosa) warrants biochemical investigation of peroxisomal functions. Further prospective investigations will have to be done to evaluate these criteria.
A C Theil; R B Schutgens; R J Wanders; H S Heymans
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  151     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1992 Feb 
Date Detail:
Created Date:  1992-04-02     Completed Date:  1992-04-02     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  117-20     Citation Subset:  IM    
Department of Paediatrics, University of Amsterdam, The Netherlands.
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MeSH Terms
Adrenoleukodystrophy / diagnosis
Biochemical Phenomena
Chondrodysplasia Punctata / diagnosis
Diagnosis, Differential
Metabolism, Inborn Errors / diagnosis*,  metabolism
Prenatal Diagnosis
Refsum Disease / diagnosis
Retrospective Studies
Zellweger Syndrome / diagnosis*,  metabolism

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