Otolaryngology: Open Access
Open Access

Abstract

Kabuki syndrome, a congenital mental retardation syndrome with postnatal dwarfism, a peculiar facies, a broad and depressed nasal tip, large prominent earlobes, recurrent Otitis media, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands and hip joints. Vestibular & audiological studies in patients with Kabuki syndrome was done for addressing and diagnosis of the trueness of complaints. 10 and 12 year-old pair of Indian Thai patients, reported improper walking posture and fall while turning behind. Detailed examination by all medical fraternity needed to label Kabuki syndrome. Audiological examination and vestibular assessment along with CT scan and ENT was done. CT of temporal bone revealed unilateral enlarged vestibules. Audiological findings showed moderately severe mixed hearing loss. Caloric test reported 95% normal results except mild delay seen in the vestibular nerve conduction. Vestibular evoked myogenic potentials was used to investigate saccular function, measured from the tonically contracted sternocleidomastoid muscles using bone conducted sound stimuli at 70 dB SPL for validity of the findings. Kabuki syndrome, is caused by mutation in the KDM6A gene on chromosome Xp11.3. Literature and research reveal, high prevalence of otolaryngologic problems like ear diseases (92%), all three types of hearing loss (82%) and airways problems (58%) and prevalence cannot be explained solely on cleft palate, requires the diagnosis and treatment expertise of audiologist and otolaryngologists. Vestibular function can be affected due to inner ear abnormalities in Kabuki syndrome.

Biography

Email: dranirbandasgupta@hotmail.com