A 4-month-old boy is brought to the clinic for a health supervision examination. The patient was born via cesarean delivery at 37 weeks gestation to a primigravid mother. He spent 1 week in the neonatal intensive care unit for management of hypoglycemia and poor feeding. The patient has had no significant issues since discharge and has been feeding well. He is currently at the 99th percentile for weight. On physical examination, the patient's tongue is enlarged, and the right leg is significantly larger in circumference than the left. The remainder of the examination is normal. In addition to routine vaccinations, which of the following is the best next step in management of this patient?

Question

A 4-month-old boy is brought to the clinic for a health supervision examination.  The patient was born via cesarean delivery at 37 weeks gestation to a primigravid mother.  He spent 1 week in the neonatal intensive care unit for management of hypoglycemia and poor feeding.  The patient has had no significant issues since discharge and has been feeding well.  He is currently at the 99th percentile for weight.  On physical examination, the patient's tongue is enlarged, and the right leg is significantly larger in circumference than the left.  The remainder of the examination is normal.  In addition to routine vaccinations, which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec25c8_d68d_d95d_bc81_9f6faaf97f95_MD0003_00 Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with a predisposition to neoplasms. Most patients have a sporadic or inherited alteration of chromosome 11p15, which includes genes that encode insulin-like growth factor 2. At birth, classic physical findings include macrosomia, macroglossia (enlarged tongue), hemihyperplasia, and medial abdominal wall defects (umbilical hernia, omphalocele). Some infants also have visceromegaly. Newborns must be monitored closely for hypoglycemia because fetal hyperinsulinemia can result in profoundly low blood glucose at birth. umbilical hernia Patients with BWS are also at significantly increased risk of embryonal tumors such as Wilms tumor and hepatoblastoma. Abdominal ultrasound and alpha-fetoprotein level testing should occur every 3 months from birth to age 4 and renal ultrasound every 3 months from age 4-8. Patients with isolated hemihyperplasia are also at increased risk for Wilms tumor and hepatoblastoma and should undergo frequent screening as in those with BWS. (Choice B) Bilateral lower extremity x-rays may be performed in older children with BWS to evaluate for leg length discrepancy secondary to hemihyperplasia. Radiographs in infants are not helpful because orthopedic intervention is typically delayed until puberty, when bone growth is more predictable. (Choice C) Brain MRI should be performed in patients with abnormal skin findings concerning for neurocutaneous syndromes (eg, neurofibromatosis, tuberous sclerosis). Brain lesions are not a typical feature of BWS. (Choices D and F) Patients with BWS are at slightly increased risk of neuroblastoma, a tumor that can arise anywhere in the sympathetic nervous system. However, routine screening with chest x-ray (for a thoracic mass) and urine homovanillic and vanillylmandelic acid testing is not recommended due to low incidence. (Choice E) Cardiomyopathy is rare in patients with BWS. Echocardiogram may be performed for evaluation prior to surgery or for abnormal cardiac examination (not present in this patient). Educational objective: Beckwith-Wiedemann syndrome (BWS) is characterized by macrosomia, macroglossia, hemihyperplasia, umbilical hernia/omphalocele, and neonatal hypoglycemia. Because patients with BWS are at increased risk of developing Wilms tumor and hepatoblastoma, abdominal ultrasound and alpha-fetoprotein level testing are recommended. References: Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/26592461)

A 4-Month-Old Boy Is Brought to the Clinic for a Health