A Case of Ehlers-Danlos Syndrome Presenting with Neurological Symptoms

J Korean Neurol Assoc > Volume 18(4); 2000 > Article

Journal of the Korean Neurological Association 2000;18(4): 515-517.

신경계 증상을 보이는 Ehlers-Danlos 증후군 1예

장용석, 박영혁 ·김명국 ·김광수 ·유경무 ·서기석*

고신대학교 의학부 신경과학교실,피부과학교실*

A Case of Ehlers-Danlos Syndrome Presenting with Neurological Symptoms

Yong Seok Jang, M.D., Young Hyuk Park, M.D., Meyung Kug Kim, M.D., Kwang Soo Kim, M.D., Kyung Moo Yoo, M.D., Kee Suck Suh, M.D.*

Department of Neurology & Dermatology*, Kosin University College of Medicine

Abstract

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by fragility of the skin, hyperelasticity of the skin, hyperextensible joints, vascular lesions, easy bruising, and excessive scarring after injuries. Some patients with EDS have neurological symptoms and signs, such as muscular hypotonia, muscular atrophy, spin-ocerebellar tract degeneration, cerebral atrophy, mental retardation, and epilepsy. We report a 16-year-old man who showed mental retardation, hyperelasticity of the skin, joint hypermobility, and muscular atrophy on the bilateral hand muscles. A skin biopsy revealed dermal thickening, a decrease in the density and number of collagen fibrils, distur-bances of the wickerwork pattern, and a disproportional increase in the number of elastic fibers. J Korean Neurol Assoc 18(4):515~517, 2000 Key Words : Ehlers-Danlos syndrome, Fragility, Hyperelasticity, Hyperextensible joints