Síndrome de Ehlers Danlos

Abstract

The present investigation is focused on an ecuadorian patient who is continuously monitored and treated at Jose Maria Velasco Ibarra Hospital, male, older infant, 3 years old, live in Tena city, without significantfamily history, multiple characteristics carrier such as: hypermobility polyarticular, tissue fragility manifested by ecchymosis with ease and excessive skin stretch, in addition to cardiac manifestations such as protomesositol murmur grade III/VI. The patient also has collagen pathology clinical manifestations, a genetic test is performed in order to confirm and verify the EDS type. Upon diagnosis confirmation on Ehlers Danlos syndrome type Arthrocalasia, age –appropriate treatment with folic acid and motor physiotherapy is initiated. Currently, it is controlled by a multidisciplinary medical team who periodically assess the patient. To conclude the patient has positive criteria for EDS but does not present clinical criteria to be an Arthrocalasia type, it is most likely a new mutation, so it is necessary to carry ot more research on this medicine field to understand and know the prognosis and give a better treatment, the current management is base don literatura and scientific evidence, it is suggested to continue monitoring this case.