Menière-like syndrome in Camurati-Engelmann disease.

This 42 year old woman had a history of delayed motor development, chronic muscle fatigue and gait disturbance. Her mother and mother’s brother suffered from similar symptoms. At the age of 20 she was diagnosed with Camurati-Engelmann syndrome. At that time she started to suffer from fluctuating tinnitus in the right ear and attacks of rotational vertigo lasting hours. The vertigo was accompanied by vomiting, increased tinnitus and blocked right ear. On examination a bilateral exophthalmus and frontal bossing were conspicuous [Figure A]. On protrusion the tongue deviated to the left and a mild left muscle bulk atrophy was noted [Figure B]. The head thrust test demonstrated an abnormal vestibuloocular reflex with saccadic catch-up on both sides. Her gait was waddling but muscle dystrophy or long tract signs were absent. Repeated audiograms documented a sensorineural hearing loss at low frequencies during the period of disease activity that improved during remission. An electronystagmoc amurati-Engelmann disease is a rare autosomal dominant disorder characterized by cranial hyperostosis and sclerosis of the diaphyses of the long bones. To date only several hundreds of patients with Camurati-Engelmann disease have been reported. Among them, hearing loss was one of the most frequent cranial nerve manifestations (19%), followed by vertigo, facial nerve involvement, and trigeminal neuropathy [1]. While most of the reported cases with sensorineural hearing loss had a slowly progressive course, as would be expected in compression, fluctuating hearing loss with attacks of vertigo, resembling Menière disease, is extremely rare [2,3]. gram revealed a right caloric weakness. A computed tomography scan of the base of skull showed diffuse hyperostosis and sclerotization of the skull and face bones with stenosis of the internal auditory canals [Figure C]. Treatment with betahistine and low salt diet ameliorated the frequency of vertigo attacks.