Werner Syndrome

Premature aging disease that begins in adolescence or early adulthood. With short stature, bilateral cataracts, scleroderma-like skin changes, premature graying or loss of hair, and malignancies predisposition. The main risks are associated with cardiovascular and neurological complications because of the atheromatous disease.

Progeria Adultorum; Progeria of the Adult.

First described by C.W. Otto Werner, German physician in 1904.

1 to 2 cases per million in general population. More common in Japan and Sardinia than in other geographic areas. As of 2003, about 1000 cases have been reported internationally and 800 of them are in Japan. The mean survival age for these patients is 46 years.

Autosomal recessive.

A reduction in the amount of cell DNA repair activity has been demonstrated and postulated as a cause of the premature aging. In addition, these patients are at increased risk of developing malignancies of skin and intestine. Syndrome is caused by mutations in the RecQ protein-like 2 gene located at 8p12-p11.2.

Characterized by short stature, slender limbs, cataracts, skin hypoplasia, and stocky trunk.

Patients with Werner syndrome demonstrate progeria, showing loss of subcutaneous fat, prominent scalp veins, short stature, weight loss, sclerodermoid skin changes, mottled pigmentation, and freckling. Hair loss and premature graying are features. Patients frequently demonstrate premature aging only in their third decade. Development of endocrine disturbance with diabetes and early atherosclerosis occur, as well as osteoporosis, hypofertility, hypogonadism, amyotrophy, and retinal degeneration. Most patients die in their fourth or fifth decade from malignancy (10% of cases; osteosarcoma and meningioma especially).

Before anesthesia, patients with this disorder must be thoroughly assessed for evidence of coronary artery disease and other organ dysfunction. Urea and electrolytes, plasma glucose, and, possibly, glucose tolerance tests should be performed. Thyroid function testing should be undertaken. A thorough cardiovascular examination is supplemented by a 12-lead ECG and possibly further investigation of the coronary vascularization.

A difficult airway and difficulty performing direct laryngoscopy and tracheal intubation is a possibility in these patients because of the skin changes. No specific techniques can be recommended because each of these rare cases must be handled individually.

Anesthetic drugs should be adapted to renal function. Muscle relaxants are not contraindicated but amyotrophic changes may be considered and monitoring is necessary.

Progeria Syndrome: A very rare disorder of childhood. It is characterized by accelerated premature aging, short stature, and characteristic facial features. Severe cardiopulmonary problems (including myocardial infarction in early age) must be carefully considered. Various orthopedic and orthorhinolaryngological problems are reported.

Gottron Syndrome: A mild, inherited form of progeria which is characterized by abnormally small hands and feet with thin and delicate skin. Children affected by this disorder appear older than their actual age. The skin is unusually thin and very fragile. It has a parchment-like texture on the hands and ...