Téma: Case reports

Sudden death due to ehlers-danlos syndrome type iv in a 17-year-old youth: case report and review of the literature

Jozef Krajčovič, Martin Janík, Ľubomír Straka, František Štuller, František Novomeský

The authors present an unusual case in which sudden death of a 17-year-old white boy resulted from thoracic artery rupture as a fatal complication of Ehlers-Danlos syndrome type IV (EDS IV). EDS is rare, genetically based disorder of connective tissue, characterized by thin, translucent skin, easy bruising, characteristic facial appearance as well as joint hypermobility. Vascular dissection or rupture, intestinal perforation, or organ rupture are the presenting signs in the majority of individuals identified to have vascular EDS type IV. Unlike other EDS types, the skin is not hyperextensible, but rather thin and translucent. Spontaneous bruising or bruising after minor trauma is the most common manifestation, especially in children. Arterial ruptures or dissections are responsible for the majority of deaths as they are unpredictable and because the fragility of arterial walls often makes the surgical repair difficult. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation may occur. In this concise review paper, we present case of spontaneous rupture of left subclavian artery leading to fatal exsanguination in young individual with EDS type IV, who underwent surgical procedure 20 months prior to death. Although no causative or curative therapy exists in patients with Ehlers-Danlos syndrome type IV, prompt diagnosis may influence the management of surgery, pregnancy and major complications.