Pontine tegmental cap dysplasia with a duplicated internal auditory canal

Abstract

Pontine tegmental cap dysplasia (PTCD) is a rare neurological syndrome that results in a hypoplastic ventral pons, tegmental cap at the dorsal pons, and cranial nerve dysfunction. The most common symptoms are hearing loss and speech problems. We present a case of a 9-month-old male who presented with developmental delay and hypotonia. Magnetic resonance imaging revealed ectopic dorsal transverse pontine fibers and a cap-like protrusion of the dorsal pons. Diffusion tensor imaging showed that the ventral pontine fibers were absent. The cause of PTCD is undiscovered, but proposed hypotheses include dysfunction in axonal guidance, neuronal migration, and ciliary protein function. PTCD is a rare neurological disorder, but the diagnosis can be suggested with MRI using diffusion tensor imaging as an aid.

A case report of pediatric neurotrophic keratopathy in pontine tegmental cap dysplasia treated with cenegermin eye drops

“…[ 10 ] To the best of our knowledge, <50 cases of PTCD have been reported in the literature so far. [ 11 ] Patients with this condition suffer from several cranial and extracranial abnormalities, pyramidal and cerebellar malformations, and various cranial nerves dysfunctions (VIII cranial nerve is always involved, whereas V, VI and VII cranial nerves are variably involved). The main symptoms and signs include auditory deficits, cognitive impairment, ataxia, deglutition dysfunction, abnormalities of eye movements, variable deficiency of the trigeminal nerve, and other neurological dysfunctions.…”