The treatment of BWS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Geneticists, pediatricians, plastic surgeons, endocrinologists, nephrologists (kidney specialists), orthodontists (dental specialists), pulmonologists (lung specialists), speech pathologists, pediatric oncologists, and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment.
In newborns with BWS, regular monitoring of blood glucose levels should be performed to ensure prompt detection and treatment of hypoglycemia. Although neonatal hypoglycemia is usually mild and temporary, its early detection and treatment is essential in preventing associated neurologic complications. Treatment measures may include the administration of intravenous glucose, frequent feedings, certain medications (e.g., diazoxide or octreotide), and/or surgical intervention in some cases.
In many infants with umbilical hernia, the defect may spontaneously disappear by the age of approximately one year. Surgery is usually not required unless an umbilical hernia becomes progressively larger, does not spontaneously resolve (e.g., by about three or four years of age), and/or is associated with certain complications. However, in newborns with an omphalocele, surgical repair of the defect is typically required shortly after birth.
Similar to other features associated with BWS, macroglossia can vary in severity. Patients with macroglossia are at an increased risk for obstructive sleep apnea, feeding difficulties, speech difficulties, and potential jaw development issues. Patients with macroglossia require the support of a multidisciplinary team. They should undergo feeding evaluation and sleep studies in addition to consultations with plastic surgeons and pulmonologists if needed. Feeding difficulties caused by macroglossia may require the support of feeding specialists or dieticians. Treatment may include the use of specialized nipples or the temporary insertion of a nasogastric tube. Speech difficulties may require the support of speech therapy. A pulmonologist can evaluate the degree to which macroglossia affects a patient’s breathing and sleeping. A polysomnography (sleep study) may be used to assess for obstructive sleep apnea, airway obstruction, airway resistance, severe desaturation, sleep disordered breathing, and snoring. Continuous positive airway pressure (CPAP) is a method used to support children with obstructive sleep apnea. Some patients may undergo tongue reduction surgery with the goal of improving breathing, feeding, and jaw or dental malformations due to macroglossia. Patients with macroglossia should be followed closely by a multidisciplinary team.
Regular orthopedic evaluation is recommended for patients with lateralized overgrowth. Some patients with significant lateralized overgrowth of the limbs may require shoe lifts and in some cases, surgical correction may be needed.
In addition, infants and patients with BWS should undergo regular abdominal and renal ultrasounds, and measurement of serum alpha-fetoprotein levels as recommended enabling early detection and treatment of certain malignancies that may occur in association with BWS (e.g., Wilms tumor, hepatoblastoma).
Alpha-fetoprotein (AFP) is a protein produced by the liver. AFP levels typically decline during infancy; however, AFP may be abnormally elevated in blood if certain tumors are present (hepatoblastoma). The trend in AFP levels over time should be followed in patients with BWS and normal AFP values for children with BWS are available to aid in interpretation of results. There have been recent discussions regarding the utility of AFP screening in young children. While some suggest that the invasiveness of a regular blood draw may be stressful for many families, AFP has proven to be a useful early indicator for hepatoblastoma.
According to the United States-based guidelines, screening is recommended for all patients with a clinical or molecular diagnosis of BWS by AFP analysis and a full abdominal ultrasound every three months until the 4th birthday (to screen for hepatoblastoma and Wilms tumor) followed by renal ultrasounds every 3 months until 7th birthday (to screen for Wilms tumor). Additional screening by urine analysis for neuroblastoma is recommended for patients with CDKN1C mutations. Also, screening for patients with BWS due to GWpUPD may extend beyond the 7th birthday.
If a tumor develops in association with BWS, the appropriate treatment measures vary depending on the specific tumor present, the stage and/or extent of disease, and/or other factors. Treatment methods may include surgery (for example, nephron-sparing kidney resection in the case of a Wilms tumor), use of certain anticancer drugs (chemotherapy), radiation therapy, and/or other measures. (For more information on Wilms tumor, choose “Wilms” as your search term in the Rare Disease Database.)
Patients with cardiac, gastrointestinal, and renal abnormalities may require certain medications, surgery, or other medical interventions. These patients should be referred to appropriate specialists. Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
Late-onset complications with BWS may require continued follow-up in adulthood. More research is needed to understand the features and associated treatments for adults with BWS.