Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness; A Diagnostic Challenge?

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 a-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.