Abstract
Introduction Prenatal counseling with regards to the prognosis of a cerebellar abnormality is
hindered not only by the diverse clinical presentations but also by the presence of
subtle findings. We present a case of a distinct combination of asymmetric cerebellar
hypoplasia secondary to an anterior meningoencephalocele through a clival defect that
caused a severe airway obstruction in the newborn.
Case Description A 21-year-old gravida 4 para 0 mother with a dichorionic–diamniotic twin pregnancy
was referred for a second trimester sonographic survey. An asymmetric cerebellar hypoplasia,
mega cisterna magna, and a pharyngeal cystic mass were noted on twin A. Magnetic resonance
imaging report confirmed posterior fossa abnormalities and shed no light on the differential
diagnosis of the cystic mass. The pregnancy ended by Cesarean delivery at 32 weeksʼ
gestation after a preterm premature rupture of the membranes. Twin A had a severe
airway obstruction. Postnatal evaluation confirmed a midline anterior meningoencephalocele
through a defect in the clivus. The microarray chromosomal analysis demonstrated a
5q15 variant with uncertain clinical significance.
Conclusion Antenatal recognition of the unique combination of a cerebellar hypoplasia with a
pharyngeal cyst can impact the prenatal counseling as well as neonatal management.
Keywords
cerebellar anomaly - clivus bone - encephalocele - prenatal counseling - posterior
fossa abnormality
