Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know?

Abstract

We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through assessment of cranial nerves, extraocular muscles, orbital, and brain abnormalities. Duane retraction syndrome shows absent or hypoplasic 6th cranial nerve and preserved extraocular muscles (EOM). Mobius syndrome shows absent 7th and 6th cranial nerves, absence of facial colliculus, flattening of the dorsal aspect of the pons, hypoplasia of the pons and medulla, and flattening of the 4th ventricular floor. Congenital fibrosis of the extraocular muscles reveals unilateral or bilateral hypoplasia or aplasia of the 3rd cranial nerve, atrophy of superior rectus and levator palpebrae superioris muscles, and atrophy of the brainstem and cerebellar hemispheres. Horizontal gaze palsy and progressive scoliosis show characteristic split pons sign, butterfly medulla, absent facial colliculi, and spinal scoliosis. HOXA1 Mutations show a bilateral absence of 6th cranial nerves with the underdeveloped inner ear. Pontine Cap Tegmental Dysplasia shows ventral pontine hypoplasia, dorsal tegmental projection into the 4th ventricle, and variable cranial nerve deficits.

Keywords: Brain stem; Congenital; Cranial nerves; Extraocular muscles.