Clinical manifestation of Hurler syndrome in a 7 year old child.
Identifieur interne : 000293 ( Main/Exploration ); précédent : 000292; suivant : 000294Clinical manifestation of Hurler syndrome in a 7 year old child.
Auteurs : S. Sharma [Inde] ; J R Sabharwal ; P. Datta ; S. SoodSource :
- Contemporary clinical dentistry [ 0976-2361 ] ; 2012.
Abstract
Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. An interesting case of a seven year old boy with a combination of skeletal, neurological, ophthalmologic, oro-dental and radiological findings of this diverse and devastating clinical entity with MPS I-(Hurler syndrome) has been presented here in this case report.
DOI: 10.4103/0976-237X.94554
PubMed: 22557905
PubMed Central: PMC3341767
Affiliations:
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Sharma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pedodontics, Inderprastha Dental College and Hospital, Sahibabad, Uttar Pradesh, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pedodontics, Inderprastha Dental College and Hospital, Sahibabad, Uttar Pradesh</wicri:regionArea><wicri:noRegion>Uttar Pradesh</wicri:noRegion></affiliation></author><author><name sortKey="Sabharwal, J R" sort="Sabharwal, J R" uniqKey="Sabharwal J" first="J R" last="Sabharwal">J R Sabharwal</name></author><author><name sortKey="Datta, P" sort="Datta, P" uniqKey="Datta P" first="P" last="Datta">P. Datta</name></author><author><name sortKey="Sood, S" sort="Sood, S" uniqKey="Sood S" first="S" last="Sood">S. Sood</name></author></analytic><series><title level="j">Contemporary clinical dentistry</title><idno type="eISSN">0976-2361</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. An interesting case of a seven year old boy with a combination of skeletal, neurological, ophthalmologic, oro-dental and radiological findings of this diverse and devastating clinical entity with MPS I-(Hurler syndrome) has been presented here in this case report.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">22557905</PMID><DateCompleted><Year>2012</Year><Month>10</Month><Day>02</Day></DateCompleted><DateRevised><Year>2020</Year><Month>09</Month><Day>29</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">0976-2361</ISSN><JournalIssue CitedMedium="Internet"><Volume>3</Volume><Issue>1</Issue><PubDate><Year>2012</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Contemporary clinical dentistry</Title><ISOAbbreviation>Contemp Clin Dent</ISOAbbreviation></Journal><ArticleTitle>Clinical manifestation of Hurler syndrome in a 7 year old child.</ArticleTitle><Pagination><MedlinePgn>86-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.4103/0976-237X.94554</ELocationID><Abstract><AbstractText>Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. 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Datta</name><name sortKey="Sabharwal, J R" sort="Sabharwal, J R" uniqKey="Sabharwal J" first="J R" last="Sabharwal">J R Sabharwal</name><name sortKey="Sood, S" sort="Sood, S" uniqKey="Sood S" first="S" last="Sood">S. Sood</name></noCountry><country name="Inde"><noRegion><name sortKey="Sharma, S" sort="Sharma, S" uniqKey="Sharma S" first="S" last="Sharma">S. Sharma</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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