Review Question - QID 109451

This patient presents with fetal macrosomia, unexplained neonatal hypoglycemia, macroglossia, and hemihypertrophy, which suggests a diagnosis of Beckwith-Wiedemann syndrome (BWS). Patients with BWS should undergo screening of the kidneys, as BWS is strongly associated with Wilms tumor.

Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder caused by a mutation on chromosome 11. It presents with fetal macrosomia, macroglossia, hemihypertrophy, midline defects such as omphalocele or umbilical hernia, and neonatal hypoglycemia due to fetal hyperinsulinemia. BWS also predisposes patients to embryonal tumor development, including Wilms tumor, hepatoblastoma, and neuroblastoma. Patients should be screened for tumor development using abdominal ultrasound and serum alpha-fetoprotein. Patients often require abdominal wall surgical reconstruction and those who have a tumor should undergo surgical excision of the tumor.

Weksberg et al. review the evidence regarding the diagnosis and etiology of BWS. They discuss how epigenetic errors may contribute to the manifestations of this disease. They recommend screening for associated findings of this syndrome such as Wilms tumor.

Figure/Illustration A is a clinical photograph demonstrating an umbilical hernia (red circle). Midline abdominal wall defects such as a hernia are associated with Beckwith-Wiedemann syndrome.

Figure/Illustration B is a clinical photograph demonstrating asymmetric hemihypertrophy of the right leg (red circle). Hemihypertrophy is a common finding in patients with BWS.

Incorrect Answers:
Answer 1: Screening of the adrenal glands would be appropriate for patients with multiple endocrine neoplasia type 2 (MEN2) or von Hippel-Lindau (VHL) disease due to an increased risk of pheochromocytoma in both diseases. Pheochromocytoma presents with intractable hypertension, diaphoresis, headache, and a feeling of doom. Treatment is with surgical excision after premedication with alpha-blockers.

Answer 2: Screening for bone abnormalities may be appropriate for patients with Li-Fraumeni syndrome, which is associated with osteosarcoma in addition to breast cancer, leukemia, and adrenocortical carcinomas. Treatment is with surgical excision of identified sarcomas.

Answer 3: Screening for abnormalities in the eyes would be appropriate for patients with VHL due to the increased risk of retinal capillary hemangioblastomas (retinal angiomas). Ophthalmologic evaluation would also be appropriate for patients with neurofibromatosis type 1 to identify early signs of an optic glioma or Lisch nodules (iris hamartomas). Treatment is with monitoring and excision of lesions that have undergone malignant transformation.

Answer 5: Screening of the thyroid gland is recommended for patients with familial adenomatous polyposis (FAP), as these patients are at risk for papillary thyroid cancer. Treatment is with surgical excision of the lesion.

Bullet Summary:
Patients with Beckwith-Wiedemann syndrome (BWS) should regularly undergo abdominal ultrasound exams to screen for Wilms tumor.