ABSTRACT
Background: Omental artery aneurysms are extremely rare. Their rupture is related to high mortality and often treated by open surgery. We describe a case of a spontaneous rupture of a left omental artery aneurysm (OAA) that was successfully treated by transcatheter arterial embolization (TAE). Case presentation: A 68-year-old man presented with acute abdominal pain. On examination, he was hypotensive and tachycardic with a blood pressure of 90/50 mm Hg. He had diffuse abdominal distension and tenderness.An abdominal enhanced computed tomography scan (CT) showed a rupture of the left OAA responsible for moderate hemoperitoneum. We performed a successful TAE. Conclusion: Ruptured OAA causes high mortality. OAA represents the rarest form of splanchnic artery aneurysms. Interventional radiology permits to avoid unnecessary surgery.TAE is a safe procedure to control ruptured OAA. We highlight the importance of a rapid embolization if the patient is hemodynamically stable.
ABSTRACT
OBJECTIVE: To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls. DESIGN: Whole exome sequencing. SETTING: University cytogenetics center. PATIENT(S): Three patients with unexplained 46,XY primary amenorrhea were included in the study. INTERVENTION(S): Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was available. MAIN OUTCOME MEASURE(S): Exome sequencing was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted. RESULT(S): Three novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene were identified:c.1573 CâT, p.Gln525Ter, c.1435 CâT p.Arg479Ter, and c.508 CâT, p.Gln170Ter. CONCLUSION(S): Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered.
