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.
Research Areas and Centers
- Academic Focus: Center for Infection and Inflammation Research (ZIEL)