Camurati-Engelmann disease presenting as 'juvenile otosclerosis'.
Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain in her lower legs. There was no history of hearing loss (or CED) in her family. She had been suffering from progressive hearing impairment since childhood. Serial audiograms demonstrated progressive mixed hearing loss from the age of 11 years onwards, for which she underwent successful stapes surgery bilaterally at the age of 13-18 years. Clinical ('juvenile') otosclerosis was found with stapes footplate fixation. Unfortunately, the sensorineural hearing loss component proved to be progressive bilaterally after surgery. At the age of 30 years, she experienced more rapid deterioration of her hearing loss in the right ear and episodes of vertigo. Vestibular examinations demonstrated progressive vestibular impairment 'otospongiotic' lesions with encroachment on the cochlear and vestibular labyrinth were found on high resolution CT scans at the age of 40 years; the internal auditory canal was normal bilaterally. CED may have formed a chance combination with juvenile otosclerosis in our patient, or otosclerosis may be part of the CED phenotype.
Department of Otolaryngology, University Hospital Nijmegen, The Netherlands.
P L
PL
Huygen
C W
CW
Cremers
W I
WI
Verhagen
F B
FB
Joosten
D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D001844:Bone Conduction; D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D015834:Cochlear Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005500:Follow-Up Studies; D006312:Hearing Loss, Bilateral / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D010040:Otosclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D010641:Phenotype; D013067:Speech Perception; D013201:Stapes Surgery; D014057:Tomography, X-Ray Computed; D014717:Vertigo / Q000175:diagnosis; D015837:Vestibular Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging