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

doi:10.1007/s00431-004-1407-z

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

Department of Dermatology, Allergology and Venereology

16 Citations (Scopus)

Abstract

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 language	English
Journal	European Journal of Pediatrics
Volume	163
Issue number	4-5
Pages (from-to)	214-217
Number of pages	4
ISSN	0340-6199
DOIs	https://doi.org/10.1007/s00431-004-1407-z
Publication status	Published - 01.04.2004

Funding

Acknowledgements We would like to thank Mrs. Julia Fischer and Mr. Heiko Steenbock, Department of Medical Molecular Biology, University of Lübeck, for their expert technical assistance in cross-link analysis.

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

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

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Cite this

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

abstract = "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.",

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T1 - Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

AU - Brunk, Irene

AU - Stöver, Brigitte

AU - Ikonomidou, Chrysanthy

AU - Brinckmann, Jürgen

AU - Neumann, Luitgard M.

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AB - 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.

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

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