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.
| Originalsprache | Englisch |
|---|---|
| Zeitschrift | European Journal of Pediatrics |
| Jahrgang | 163 |
| Ausgabenummer | 4-5 |
| Seiten (von - bis) | 214-217 |
| Seitenumfang | 4 |
| ISSN | 0340-6199 |
| DOIs | |
| Publikationsstatus | Veröffentlicht - 01.04.2004 |
Fördermittel
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.
Strategische Forschungsbereiche und Zentren
- Forschungsschwerpunkt: Infektion und Entzündung - Zentrum für Infektions- und Entzündungsforschung Lübeck (ZIEL)
UN SDGs
Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung
