A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
* Congenital cataracts * Deafness * Nephritis * Enlarged blood platelets * Renal disease * Increased protein levels in urine
1. Conductivehearing loss 1. Externalauditory canal disorders 1. Atresia of external auditory canal 2. Impacted cerumen 3. Otitis externa 4. Exostosis 5. Masses 2. Middle ear disorders 1. Acuteand chronic otitis media 2. Otitis media with effusion 3. Tympanic membrane perforation 4. Hemotympanum 5. Tympanosclerosis 6. Ossicular chain defect, disruption,or fixation 7. Cholesteatoma and other middle earmasses 2. Sensorineural hearing loss 1. Sensorineuralhearing loss without associated abnormalities 2. Sensorineural hearing loss with associatedabnormalities 3. Chromosomal disorders 4. Inner ear malformations 1. Labyrinthineaplasia 2. Common cavity malformation 3. Cochlear malformations 4. Large vestibular aqueduct 5. Prematurity 6. Hypoxic-ischemic encephalopathy 7. Bilirubin encephalopathy (kernicterus) 8. Infection 9. Trauma 10. Drugs 11. Perilymph fistula 12. Neoplasm 13. Ménière disease 14. Unknown 3. Mixed hearing loss
Audiometry and caloric testing or electronystagmography should be done in almost all cases in which the ear examination is normal. It is probably wise to consult an otolaryngologist at this point. Tympanography will be helpful in diagnosing subtle cases of serous otitis media. X-rays of the mastoids, petrous bones, and internal auditory canal should be done for chronic otitis media, cholesteatoma, and acoustic neuroma. If an acoustic neuroma is suspected, however, an MRI of the brain and auditory canals must be done. If basilar artery insufficiency is suspected, four-vessel cerebral angiography should be done. Magnetic resonance angiography is an excellent noninvasive alternative for diagnosing vertebral-basilar artery disease. If multiple sclerosis is suspected, MRI of the brain, BSEP and VEP studies, and a spinal tap for spinal fluid analysis may be done. Rather than perform these tests, the most cost-effective approach would be to refer the patient to a neurologist if other focal neurologic findings are evident.