Pontine Tegmental Cap Dysplasia: A Rare Case in South Africa

We present the first case of pontine tegmental cap dysplasia (PTCD) reported in South Africa, involving a one-year-old girl with bilateral sensorineural deafness, global atrophy, hemivertebrae, and butterfly vertebrae. Clinical examination revealed subtle dysmorphic features, abnormal corneal sensation, bilateral strabismus, and uncertain visual acuity. Magnetic resonance imaging (MRI) demonstrated key diagnostic features, including ventral pons hypoplasia, ectopic dorsal pontine tissue, and cranial nerve abnormalities such as hypoplasia of the facial nerves, absent right vestibulocochlear nerve, and non-branching left vestibulocochlear nerve. A review of the literature highlights the importance of advanced neuroimaging techniques, such as MRI and diffusion tensor imaging (DTI), in identifying the structural aberrations and potential axonal guidance abnormalities associated with PTCD. This case report aims to shed light on this rare condition's intricacies and emphasize the need for further research to deepen our understanding and enhance patient care outcomes.