EHLERS-DANLOS SYNDROME TYPE VI IN A 17-YEAR-OLD IRANIAN BOY WITH SEVERE MUSCULAR WEAKNESS – A DIAGNOSTIC CHALLENGE?

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KARIMINEJAD A.; BOZORGMEHR B.; KHATAMI A.R.; KARIMINEJAD M.H.; GIUNTA C.; STEINMANN B.

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Journal: Iranian Journal of Pediatrics Year:2010 | Volume:20 | Issue:3 Page(s): 358-362

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Title

EHLERS-DANLOS SYNDROME TYPE VI IN A 17-YEAR-OLD IRANIAN BOY WITH SEVERE MUSCULAR WEAKNESS – A DIAGNOSTIC CHALLENGE?

Author(s)

Keywords

EHLERS-DANLOS

KYPHOSCOLIOSIS

MUSCULAR HYPOTONIA

MUSCULAR WEAKNESS

MICROCORNEA

Abstract

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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APA: Copy

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. SID. https://sid.ir/paper/564125/en

Vancouver: Copy

KARIMINEJAD A., BOZORGMEHR B., KHATAMI A.R., KARIMINEJAD M.H., GIUNTA C., STEINMANN B.. EHLERS-DANLOS SYNDROME TYPE VI IN A 17-YEAR-OLD IRANIAN BOY WITH SEVERE MUSCULAR WEAKNESS – A DIAGNOSTIC CHALLENGE?. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2010;20(3):358-362. Available from: https://sid.ir/paper/564125/en

IEEE: Copy

A. KARIMINEJAD, B. BOZORGMEHR, A.R. KHATAMI, M.H. KARIMINEJAD, C. GIUNTA, and B. STEINMANN, “EHLERS-DANLOS SYNDROME TYPE VI IN A 17-YEAR-OLD IRANIAN BOY WITH SEVERE MUSCULAR WEAKNESS – A DIAGNOSTIC CHALLENGE?,” IRANIAN JOURNAL OF PEDIATRICS, vol. 20, no. 3, pp. 358–362, 2010, [Online]. Available: https://sid.ir/paper/564125/en

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