A Case of Ehlers-Danlos Syndrome Presenting with Neurological Symptoms.
- Author:
Yong Seok JANG
1
;
Young Hyuk PARK
;
Meyung Kug KIM
;
Kwang Soo KIM
;
Kyung Moo YOO
;
Kee Suck SUH
Author Information
1. Department of Neurology, Kosin University College of Medicine.
- Publication Type:Case Report
- Keywords:
Ehlers-Danlos syndrome;
Fragility;
Hyperelasticity;
Hyperextensible joints
- MeSH:
Adolescent;
Atrophy;
Biopsy;
Cicatrix;
Collagen;
Connective Tissue;
Ehlers-Danlos Syndrome*;
Elastic Tissue;
Epilepsy;
Hand;
Humans;
Intellectual Disability;
Joint Instability;
Joints;
Muscle Hypotonia;
Muscles;
Muscular Atrophy;
Skin
- From:Journal of the Korean Neurological Association
2000;18(4):515-517
- CountryRepublic of Korea
- Language:Korean
-
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.
