[Genetic syndrome, most likely vascular type of Ehlers-Danlos syndrome, in a 14-years old boy with extrapyramindal symptoms dominating the early childhood and growth failure].

INTRODUCTION

The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of rare genetic disorders with various clinical features, which result from faulty collagen structure or disturbances in collagen synthesis.

THE CASE STUDY: The Ehlers-Danlos Syndrome was diagnosed in patient at the age of 7 as easy bruising and tearing of the skin with scars being left afterwards and spontaneous ruptures of skin's blood vessels were observed. In earlier years extrapyramidal symptoms, which were dominating the clinical picture, perinatal complications and delayed psychomotor development led to a suggestion of the infantile cerebral palsy. Growth failure and low bone mass are also observed in this patient.

CONCLUSION

Diverse symptoms can occur in patients with EDS, so all of them must be included into diagnostics and treatment. In the vascular type of EDS the biggest fear is about some rupture of a major blood vessel or an internal organ (bowels etc.), so educating the patient and his/hers family, especially about everyday physical activity, plays a very important role.