Beckwith-Wiedemann Syndrome Health Article

Treatment and management

Early treatment of hypoglycemia is important to reduce the risk of central nervous system damage. Most cases of hypoglycemia are mild and will resolve shortly with treatment, however, some cases may be more difficult. Treatment for hypoglycemia may include steroid therapy, which is usually required for only one to four months.

If an infant has an abdominal wall defect, such as an omphalocele, surgery is usually performed soon after birth to repair the defect. For very large omphaloceles, a several stage operation is performed. The treatment and management of the omphalocele depends upon the presence of other problems and is very specific to each individual.

A cardiac evaluation is recommended prior to surgery or if a heart defect is suspected by clinical evaluation. Cardiomegaly is frequently present, but usually resolves without treatment.

Non-malignant kidney abnormalities, including renal cysts and hydronephrosis, occur in approximately 25% of patients. A consult with a pediatric nephrologist would be recommended for patients who have structural renal abnormalities, including any evidence of renal calcium deposits on ultrasound examination.

To screen for tumors, a baseline MRI (magnetic resonance imaging) or CT (computed tomography) examination of the abdomen is recommended for individuals believed to have BWS. To screen for Wilms tumor and other embryonal tumors, abdominal ultrasound is recommended. Blood pressure should also be monitored, as approximately 50% of people with Wilms tumors may have associated hypertension. Because tumor development may occur at any time, though usually before eight years of age, the screening recommendations are that abdominal ultrasound be performed every three to six months until eight years of age, and then annually until growth is complete. In addition to ultrasound, screening for hepatoblastoma is accomplished by serial measurements of the serum alpha-fetoprotein (AFP) levels during these years as well. Elevated levels of serum AFP are present 80-90% of the time when a hepatoblastoma is present. Alpha-fetoprotein is a protein produced by the fetal liver. Concentrations of this protein fall rapidly during the first few weeks after birth and reach adult levels by six months of age. These adult levels are approximately 2-20 ng/ml. Thus, the presence of elevated levels in children and adults usually indicates tumor development. Abnormal AFP levels should be followed with an abdominal CT examination looking for evidence of a tumor in the liver.

Surgical removal is the primary treatment for hepatoblastoma; however, in tumors that cannot be removed, chemotherapy is performed.

Treatment for Wilms tumor is often only surgical removal of the tumor; however, in some cases chemotherapy and radiation therapies are necessary, depending upon the stage of disease and the characteristics of the tumor.

Macroglossia may need to be addressed with the possibility of surgery. The large tongue may partially block the respiratory tract and lead to problems such as difficulty breathing and feeding. In most cases, the tongue growth slows over time and eventually the tongue can be accommodated. Dental malocclusion and a prominent jaw are secondary to the macroglossia. In rare cases, surgery to reduce tongue size is needed and is usually performed between two and four years of age.

Prognosis

After dealing with initial neonatal issues such as hypoglycemia, feeding, and respiratory problems, prognosis is usually good. Infants with BWS syndrome have an approximately 20% mortality rate. This is mainly due to complications stated above, and also includes complications of prematurity and omphalocele. The prognosis with repaired omphalocele is good. The majority of deaths in cases of omphalocele are usually associated with other anomalies or respiratory insufficiency. Respiratory insufficiency can occur in patients with omphaloceles if the omphalocele is so large that prenatal lung development cannot occur as usual. Respiratory insufficiency can also occur because of prematurity.

Tumor survival rates for Wilms tumor and for hepatoblastoma are as follows. In general, the four-year survival of all patients who have Wilms tumor with favorable histology approaches 90%. For hepatoblastomas, the combination of surgery and chemotherapy has achieved disease-free survival rates of 100% for stage I, 75% for stage II, and 67% for stage III hepatoblastomas.

In children who have BWS, development is usually normal if there is no history of significant, untreated hypoglycemia. After childhood, complications for patients with BWS are uncommon and prognosis is good.

BOOKS

Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation. W. B. Saunders Company, 1997.

ORGANIZATIONS

Beckwith-Wiedemann Support Network. 2711 Colony Rd., Ann Arbor, MI 48104. (734) 973-0263 or (800) 837-2976. <http://www.beckwith-wiedemann.org>.

Renee A. Laux, MS