Werner's syndrome: incidental finding during pregnancy
A R Hurtarte Sandoval1, J D Penate Dardón, B J Flores Robles
1Department of Internal Medicine, San Juan de Dios General Hospital, Guatemala, Guatemala, Guatemala.
BMJ Case Reports
|December 5, 2013
Summary
Werner's syndrome (WS), a premature aging disorder, presented unusually in a pregnant woman with severe hypertension. Despite medical intervention, the patient died, but her newborn survived and was monitored.
Area of Science:
- Genetics
- Endocrinology
- Obstetrics
Background:
- Werner's syndrome (WS) is a rare autosomal recessive disorder causing premature aging.
- Key features include skin changes, hair loss, and early-onset type 2 diabetes.
Observation:
- A 27-year-old pregnant woman at 32 weeks gestation presented with uncontrolled hypertension.
- She exhibited characteristic clinical features suggestive of Werner's syndrome.
Findings:
- The diagnosis of Werner's syndrome was confirmed through genetic testing.
- The pregnancy was complicated by oligohydramnios, necessitating a cesarean section.
- The patient experienced intraoperative cardiac arrest and unfortunately died.
Implications:
- This case highlights the rare presentation of Werner's syndrome in pregnancy.
- It underscores the critical risks associated with advanced maternal age and genetic disorders.
- Successful fetal salvage and neonatal monitoring are crucial in such complex obstetric cases.
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