BMJ case reports · 2013
Werner's syndrome: incidental finding during pregnancy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Hurtarte Sandoval A R, Penate Dardón J D, Flores Robles B J, Porres S
Аннотация
Werner's syndrome (WS) is a rare autosomal recessive disorder, characterised by skin changes prematurely during adolescence. An unusual case of WS was found in a 27-year-old pregnant woman who presented to the hospital with a history of uncontrolled hypertension at 32 weeks of gestation. All clinical features corresponding to WS (early aging of skin, hair loss, blurred vision and diabetes type 2) appeared to match with the prospective diagnosis, which was confirmed later with genetic testing. The pregnancy became complicated due to oligohydramnios and therefore a caesarean section was carried out in order to preserve the fetus. Despite all implemented efforts, the patient died intraoperative as a result of cardiac arrest and its complications. Successfully, the newborn survived and it was further investigated to exclude this condition.