DOI: 10.36347/sjmcr.2017.v05i10.009

Pages: 630-634

A thirteen-year-old boy suddenly collapsed in junior-high school. His medical history included congenital hydronephrosis, inguinal hernia, asthma and atopic dermatitis. Furthermore, his skin was vulnerable to trauma. On arrival, he was in a state of cardiopulmonary arrest with dilated non-reactive pupils. The initial rhythm was asystole. A Marfanoid body and extreme features with exophthalmos and dolichocephaly were observed. Rapid ultrasound revealed cardiac tamponade. Urgent thoracotomy and pericardiotomy, which were performed to release the hematoma, failed to obtain a return of spontaneous circulation. Autopsy imaging revealed dissection of the ascending aorta. Because the present case had Marfanoid body features, exophthalmos due to craniosyntosis, and suffered a fatal aortic dissection at 13 years of age, Loeys-Dietz syndrome was clinically suspected. We did not receive parental consent to perform an autopsy or a genetic analysis. Health examinations at school are very important for a sporadic case because an early diagnosis, close monitoring and early surgery may prolong the life of affected individuals.