A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Abstract

Pontine tegmental cap dysplasia (PTCD) is a newly described brainstem malformation with distinct neuroimaging findings, characterized by a flattened ventral pons, cerebellar vermal hypoplasia and vaulted pontine tegmentum that forms a "caplike" or "beaklike" bulge projecting into the fourth ventricle. We describe a 3-month-old infant male who presented with typical neuroradiological findings as well as clinical features of PTCD. Notably, he manifested multiple anomalies with left ocular and facial hypoplasia, bilateral sensorineural hearing loss and rib and vertebral anomalies. Oculoauriculovertebral spectrum (OAVS) was thus considered to be an accompanying phenotype of this patient. The unique comorbidity seen in this patient suggests that PTCD and OAVS may partly share a common mechanism in their pathogenesis.