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Acta Paediatr. 2013 May;102(5):462-70. doi: 10.1111/apa.12169. Epub 2013 Feb 6.

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.

Author information

1
Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands. f.a.wijburg@amc.uva.nl

Abstract

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments.

CONCLUSION:

Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

PMID:
23336697
PMCID:
PMC3654162
DOI:
10.1111/apa.12169
[Indexed for MEDLINE]
Free PMC Article
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