An Infant Presenting with Large, Asymmetric Tongue

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A one-month-old girl was referred to pediatric neurology clinic for evaluation of
left facial weakness. She was born to a 25-year-old G1, P0-1 mom after a full-term,
uncomplicated pregnancy. She had a difficult delivery, but no forceps or vacuum were
used. Her birth weight was 3.75kg (75-90%tile). She had a left-sided cephalohematoma
with left facial swelling, and a left facial droop, which all resolved in the weeks
after birth. However, after discharge home, her parents noticed her large, asymmetric
tongue, larger on the right, and her coughing with some feeds. At clinic, length was
54 cm (50%tile) and weight was 4.3 kg (50%tile). She had no facial weakness, but did
have a large, asymmetric tongue (Figure). She had slightly increased peripheral tone,
fisting of both hands, and slightly increased reflexes bilaterally. A swallow study
ruled out aspiration. Magnetic resonance imaging (MRI) of the brain was ordered due
to increased tone, and revealed no abnormal intracranial findings, but demonstrated
asymmetric macroglossia. She was referred to otolaryngology, where flexible laryngoscopy
ruled out intrinsic tongue pathology, and to genetics, for concern for Beckwith-Weidemann
Syndrome (BWS). Alpha feto protein (AFP) was elevated at 184ng/ml (normal 0-77) and
abdominal ultrasound at 2 months old demonstrated asymmetric kidneys (right kidney
of 6.5cm and left kidney 5.3cm). Methylation of IC1 and IC2 of the BWS locus on chromosome
11p15 was normal. However, genetic testing for BWS can be negative in up to 30% of
affected cases. A diagnosis of BWS was made in this infant based on her two major
findings,
macroglossia and hemihyperplasia of a body part (her tongue).

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