Pontine Tegmental Cap Dysplasia: A Case Report from the Audiology Clinic

Background and Objective Pontine tegmental cap dysplasia (PTCD) is a newly identified congenital condition ensuing a wide spectrum of clinical manifestations, marked by unique and specific anatomical malformations of the hindbrain. Symptomatology includes sensory, motor, cognitive and behavioral deficits. The severe end of the spectrum constitutes fatal outcomes as well, as evidenced by the literature. One such case, who visited the department of audiology, is the object of the present study. This study aims at describing the clinical presentations of this patient in relation to the previously reported diagnostic features of PTCD providing justification to the diagnosis. Method Single case study methodology was adapted and comprehensive audiological investigations were performed using physiological and electrophysiological assessment procedures. Results and Conclusion The child was found to have profound hearing loss bilaterally in conjunction with almost all the features pertinent to PTCD.