A 33-year-old female, G3P1011, was transferred from an outside facility at 33 weeks and 6 days gestation for anticipated preterm delivery secondary to preeclampsia. On prenatal ultrasound, her fetus was diagnosed with an omphalocele and delivery was preferred at an institution with a neonatal intensive care unit (NICU) to manage the infant.
The infant was subsequently delivered at 34 weeks and 1 day via cesarean delivery, with a weight of 2.825 kg (92nd percentile). At birth, length and head circumference were 47.5 cm (3rd percentile) and 31.0 cm (less than 1st percentile), respectively. One- and 5-minute Apgar scores were 8 and 9. Initial physical exam revealed macroglossia, bilateral earlobe creases, and a 4-cm by 4-cm omphalocele with an intact membrane (Figure 1). Neurologically, the baby was alert, active, and had normal tone and appropriate reflexes for age.
Examination and testing
Given the mother’s premature onset of labor, a blood culture was obtained in order to ensure the infant was not septic. Per protocol, the patient was started on ampicillin and tobramycin prophylactically. The culture was negative and the antibiotics were discontinued after 2 days.
Upon admission to the NICU, the infant was stable on room air but was intubated preoperatively for primary closure of the omphalocele with appendectomy. Per surgical consultation, the decision was made to remove the appendix in order to prevent an atypical presentation of appendicitis later on. Surgery occurred on first day of life (Figure 2).
The infant’s initial electrolytes were all within normal limits. The first Dextrostick revealed a serum glucose of 50 mg/dL, which improved once she was placed on intravenous fluids. Total parental nutrition was started on postoperative day one. Her first oral feed was on the fourth day of life.
A 2-D echocardiogram was completed both in preparation for the operating room and given the high suspicion of a syndrome diagnosis. It showed no cardiomegaly or ventricular hypertrophy; normal biventricular systolic function; patent foramen ovale with left-to-right shunting at the atrial level; and no evidence of pulmonary hypertension. A head ultrasound also was performed and showed no pathology.
On day 2 of life, the patient had a bilateral sonogram of the kidneys showing mild left pelvocaliectasis, confirmed on repeat imaging 5 days later. Given the renal findings, Perlman syndrome was added to the differential; however, Beckwith-Wiedemann syndrome (BWS) remained high on the list given the characteristic facial features.
History, physical exam, lab work, and imaging revealed underlying pathologies pointing to different diagnoses (Table 1).
Perlman syndrome presents with neonatal macrosomia and polyhydramnios. It is caused by mutations in the DIS3L2 gene, which plays a role in mitosis and cell proliferation. Loss of the regulatory mechanism of this gene results in increased cell proliferation. Characteristic facial features include a broad and flat nasal bridge; a V-shaped upper lip; deep-set eyes and low-set ears; and a prominent forehead. Associated congenital anomalies are renal dysplasia; abdominal dystocia caused by visceromegaly involving the heart, liver, spleen, pancreas, and kidneys; severe hypotonia; and cryptorchidism in males.1
Sotos syndrome involves increased birth weight and length as well as an advanced bone age. It is caused by an intragenic loss of function mutation, particularly the gene encoding NSD1. It can be distinguished from other overgrowth syndromes in that it has distinctive facial features including macrodolichocephaly; frontal bossing; down-slanting palpebral fissures; a long and narrow inferior mandible; hypertelorism; and a frontoparietal receding hairline. Brain formation abnormalities include an absent corpus callosum, prominent cortical sulci, trigone, occipital horns, and a dilatation of cerebral ventricles. Because of these abnormalities, approximately 50% of afflicted patients have seizures.1
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3. Tsukamoto M, Hitosugi T, Yokoyama T. Perioperative airway management of a patient with Beckwith-Wiedemann syndrome. J Dent Anesth Pain Med. 2016;16(4):313-316.
4. Tower P, Tolia VN. Another preemie with hypoglycemia? Beckwith-Wiedemann syndrome—a case study. Neonatal Netw. 2015;34(3):178-182.
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