Beckwith-Wiedemann Syndrome Treatment & Management

Updated: Apr 03, 2018
  • Author: Jennifer M Kalish, MD, PhD; Chief Editor: Robert P Hoffman, MD  more...
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Treatment

Medical Care

Medical care is determined by the type and severity of BWS features. Consultation with specialists may be necessary depending on the nature and severity of the patient’s characteristics.

Regardless of specific presentation, all diagnosed children should be screened for tumor growth. Current screening recommendations are as follows [15] :

Ultrasound Screening

  • Full abdominal ultrasound every three months until age 4 years

  • Renal ultrasound every three months from age 4-7 years

Alpha-fetoprotein (AFP) screening

AFP measurements every three months until age 4 years.

Patients with Beckwith-Wiedemann syndrome (BWS) may require escalated care to manage persistent hypoglycemia. This may include treatment with diazoxide, octreotide, continuous feeds or in some cases partial pancreatectomy. [7] Consultation with experts in managing hyperinsulinism is recommended.

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Surgical Care

Embryonal tumors require appropriate oncologic treatment modalities, which often include nephrectomy.

Nephron-sparing partial nephrectomy is feasible if embryonal renal tumors are detected early, highlighting the need for frequent ultrasonographic screening.

Depending on the severity of macroglossia, surgical intervention may be required.

Pancreatectomy may be required for patients with persistent and severe hyperinsulinism.

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Consultations

Patients with Beckwith Wiedemann syndrome present with a variety of clinical features and may require consultation with a variety of healthcare providers. Some may include:

  • Pediatrician: management of general pediatric concerns

  • Geneticist: diagnosis and care coordination for BWS features

  • Endocrinologist: management of hypoglycemia/hyperinsulinism

  • Feeding specialist: feeding evaluation and optimization with macroglossia

  • Oncologist: management of tumor screening

  • Orthodontist: evaluation of tooth and jaw development with macroglossia

  • Orthopedic surgeon: evaluation and management of hemihypertrophy/lateralized overgrowth

  • Otolaryngologist: evaluation of the airway, tonsils, and adenoids with macroglossia

  • Plastic surgeon: evaluation for and management of macroglossia

  • Pulmonologist: evaluation for obstructive sleep apnea with macroglossia

  • Speech therapist: speech therapy with macroglossia

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Diet

Children with feeding issues may require evaluation for hemiglossectomy; other dietary modifications are determined by the child’s individual health concerns

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Activity

Patients with Beckwith-Wiedemann syndrome do not require activity restrictions.

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Further Outpatient Care

Further care should include routine visits with a pediatrician or primary care specialist to monitor clinical features and child development.

Patient-specific features may necessitate consultation with specialists.

Patients with Beckwith Wiedemann syndrome should be routinely screened for tumor development. Screening should be monitored by a physician familiar with BWS tumor screening and should include a geneticist, oncologist, or pediatrician. For patients without major complications associated with BWS, yearly checkups with a geneticist are typically recommended.

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Transfer

Maintain airway and euglycemia (with intravenous dextrose) en route to a tertiary care center.

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Deterrence/Prevention

Cancer develops in approximately 5-10% of children with Beckwith-Wiedemann syndrome; as such, guidelines are to screen all children diagnosed with BWS either molecularly or clinically. The risk of cancer is age-dependent: the risk of hepatoblastoma is higher in patients younger than 4 years, while the risk of Wilms tumor is elevated until age 7 years. After, the risk becomes that of the general population. [16] The recommended tumor screening is as follows:

Ultrasound Screening

  • Full abdominal ultrasound every three months until age 4 years

  • Renal ultrasound every three months from age 4-7 years

Alpha-fetoprotein (AFP) screening

  • AFP measurements every three months until age 4 years.

    Ultrasound screening can detect both hepatoblastoma and Wilms tumor, the most common cancers in patients with BWS. Alpha-fetoprotein is a marker of liver growth. AFP levels are much higher than normal after birth and decrease with age. The overall trend of decreasing AFP values is more important than the value of any one measurement. If values increase drastically, further testing should be done to rule out the possibility of hepatoblastoma.

    Prenatal ultrasonography permits early detection of severely affected patients with Beckwith-Wiedemann syndrome. More critically, prenatal diagnosis allows physicians to anticipate the most serious health consequences associated with Beckwith-Wiedemann syndrome, namely, hypoglycemia and abdominal tumors. Features such as omphalocele, enlarged kidneys, large for gestational age and less commonly, macroglossia can be detected on prenatal sonograms. If any of these features are suspected, genetic testing on amniocytes is recommended. Pregnancy can be complicated by polyhydramnios (increased fluid) and placental mesenchymal dysplasia (enlarged placenta with distinct histological features).

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Complications

Medical and surgical complications are possible with treatment of abdominal tumors.

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Prognosis

Prognosis is good and depends primarily on the status of the airway, on early management of hypoglycemia if present, and on tumor screening.

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