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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-41711

Kariminejad, A; Bozorgmehr, B; Khatami, A R; Kariminejad, M H; Giunta, C; Steinmann, B (2010). Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness – a diagnostic challenge? Iranian Journal of Pediatrics, 20(3):358-362.

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Background: The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these patients due to mutations in the PLOD1 gene.

Case Presentation: We report a 17-year-old boy, born to related parents, with severe kyphoscoliosis, scar formation, joint hypermobility and multiple dislocations, muscular weakness, rupture of an ocular globe, and a history of severe infantile hypotonia. EDS VI was suspected clinically and confirmed by an elevated ratio of urinary total lysyl pyridinoline to hydroxylysyl pyridinoline, abnormal electrophoretic mobility of the α-collagen chains, and mutation analysis.

Conclusion: Because of the high rate of consanguineous marriages in Iran and, as a consequence thereof, an increased rate of autosomal recessive disorders, we urge physicians to consider EDS VI in the differential diagnosis of severe infantile hypotonia and muscular weakness, a disorder which can easily be confirmed by the analysis of urinary pyridinolines that is highly specific, sensitive, robust, fast, non-invasive, and inexpensive.



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Item Type:Journal Article, not refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:22 Jan 2011 09:29
Last Modified:05 Apr 2016 14:33
Publisher:Tehran University of Medical Sciences (TUM S) Publications
Official URL:http://journals.tums.ac.ir/abs.aspx?org_id=59&culture_var=en&journal_id=4&issue_id=1914&manuscript_id=16388&segment=en
Related URLs:http://journals.tums.ac.ir/description.aspx?org_id=59&culture_var=en&journal_id=4&segment=en&issue_id=1995 (Publisher)

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