1/6. A case of relapsing polychondritis preceded by inner ear involvement.Relapsing polychondritis is a rare disease of unknown etiology causing systematic inflammation of the whole cartilaginous tissues. We report a patient with relapsing polychondritis preceded by inner ear involvement. A 68-year-old female visited our hospital for a chief complaint of sudden bilateral hearing loss. On pure-tone audiometry, sensorineural hearing loss, 47dB on the right and 51dB on the left, was observed. Later, bilateral auricular chondritis and uveitis developed. On biopsy of the auricular cartilage, perichondritis was observed. The patient was diagnosed with relapsing polychondritis in the early stage, 2 weeks after the onset. Oral predonine administration was initiated, and the auricular inflammation was improved within 10 days. The hearing loss disorder was gradually improved. The steroid dose was reduced, and no decrease in hearing has been observed so far.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Intraocular histiocytosis in a 12-year-old girl without systemic disease.Isolated intraocular histiocytosis is a rare disease that may manifest by recurrent uveitis and solid subretinal masses. The course, diagnosis and treatment of isolated intraocular histiocytosis in a 12-year-old girl are presented. As extensive diagnosis and therapy with corticosteroids and tuberculostatics failed to produce satisfactory results, diagnostic-therapeutic vitrectomy was performed. The intraoperatively obtained material was examined by the methods of histopathology, cytology and immunocytochemistry, along with herpes and cytomegalovirus polymerase chain reaction. The vitreous inflammatory exudate and subretinal masses were operatively removed. Analysis of the intraoperatively obtained material pointed to histiocytosis, whereas additional examinations revealed no systemic manifestations of the disease. Chronic uveitides that respond poorly to classic immunosuppressive therapy require multidisciplinary analysis of intraocular material. Pars plana vitrectomy is an appropriate diagnostic-therapeutic operative procedure.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. Vogt-Koyanagi-Harada syndrome: clinical and instrumental contribution.Vogt-Koyanagi-Harada syndrome is a rare disease, which probably has a cell-mediated autoimmune pathogenesis, marked by ocular (anterior and/or posterior uveitis), dermatological (poliosis, canities, vitiligo) and neurological (meningo-encephalitis) disorders of variable severity in variable combinations. The clinical pattern in the case reported here showed severe neurological involvement (headache, ataxia and confusional state) followed by anteroposterior uveitis. Instrumental investigations (cerebrospinal fluid, VEPs, BAEPs, EEG, CT and MRI brainscans) confirmed the diagnosis. The response to cortisone therapy was excellent. We emphasize the importance of the neuroradiological investigations, because of their peculiarities, and review the reports of cases with marked meningo-encephalitic impairment, given the dearth of reports in the neurological journals.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Acute tubulo-interstitial nephritis with uveitis (TINU syndrome) in a patient with serologic evidence for chlamydia infection.A 38-year-old female patient with acute tubulo-interstitial nephritis and uveitis (TINU syndrome) is described. The cause of this rare disease is unknown; most patients affected are adolescent females. Serologic investigations in the patient reported point to a possible etiologic role of chlamydia infection in this disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. Cogan's syndrome: a review of otologic management and 10-year follow-up of a pediatric case.Although first characterized over 45 years ago Cogan's syndrome still remains a rare disease, with a high incidence of poor outcome. Experience with a case of Cogan's syndrome over a 10-year period is presented. The fluctuating clinical evolution and laboratory findings over this period are depicted, starting from presentation at age 10. The response to treatment, as revealed by audiograms, is traced. The literature is reviewed with regard to treatments that have been proposed. In those cases where a sustained follow-up is available, the success of the therapy on the vestibuloauditory system is evaluated. Although some patients have a positive response to steroids, the prognosis for hearing remains poor. The ability of steroids to change the prognosis for hearing loss is not yet established, but warrants further clinical trial.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. uveitis and central nervous system vasculitis.vasculitis confined to the central nervous system (CNS) is a rare disease usually characterized by headache and focal neurologic symptoms. patients with primary vasculitis of the CNS may have symptoms and laboratory findings of systemic disease such as fatigue and elevated erythrocyte sedimentation rate, but by definition, focal inflammation should not be present outside the CNS. We describe 3 patients with uveitis in association with this diagnosis. The recognition of this association adds to the complex differential diagnosis of uveitis in association with CNS disease, and indicates that "isolated" angiitis of the CNS may display clinical features outside the brain and spinal cord.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |