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

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 Ehle...

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Bibliographic Details
Published in:European journal of pediatrics 2004-04, Vol.163 (4-5), p.214-217
Main Authors: BRUNK, Irene, STÖVER, Brigitte, IKONOMIDOU, Chrysanthy, BRINCKMANN, Jürgen, NEUMANN, Luitgard M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Diagnosis, Differential
Ehlers-Danlos Syndrome - classification
Ehlers-Danlos Syndrome - pathology
Female
Fundamental and applied biological sciences. Psychology
General aspects
Genetics of eukaryotes. Biological and molecular evolution
Hematoma - pathology
Humans
Magnetic Resonance Imaging
Medical sciences
Molecular and cellular biology
Skin - pathology
Spine - pathology
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Summary: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. We assume cystic malformations of the meninges to be most likely the result of connective tissue weakness in Ehlers-Danlos syndrome type VI.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-004-1407-z