Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

Irene Brunk, Brigitte Stöver, Chrysanthy Ikonomidou, Jürgen Brinckmann, Luitgard M. Neumann*

*Corresponding author for this work
10 Citations (Scopus)


A 7-year-old girl with thoracolumbar kyphoscoliosis was admitted for further diagnostic evaluation after a spinal MRI scan had shown several intraspinal extramedullary lesions. The clinical features including joint hypermobility and cigarette-paper like scars led to the presumptive diagnosis of Ehlers-Danlos syndrome type VI (EDS VI). Analysis of urinary lysyl- and hydroxylysyl-pyridinoline cross-links excretion confirmed a deficiency of lysylhydroxylase 1 and the diagnosis of EDS VIA. Findings on the spinal MRI scan were interpreted as spinal meningeal cysts. Over a period of 2 years, the patient developed no neurological deficits and no radiological signs of progression of the spinal lesions. Conclusion: We assume cystic malformations of the meninges to be most likely the result of connective tissue weakness in Ehlers-Danlos syndrome type VI.

Original languageEnglish
JournalEuropean Journal of Pediatrics
Issue number4-5
Pages (from-to)214-217
Number of pages4
Publication statusPublished - 01.04.2004

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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