http://casereports.bmj.com This feed contains articles for BMJ Case Reports Subject Collection "Rheumatology" BMJ Case Reports http://casereports.bmj.com http://casereports.bmj.com/cgi/content/short/2013/may22_1/bcr2013008951?rss=1 Cogan's syndrome is a rare inflammatory disorder predominantly affecting ocular and audiovestibular apparatus. The typical ocular picture is that of a non-syphilitic interstitial keratitis, while audiovestibular features resemble Meniere's disease. The hearing deficit often does not adequately respond to systemic steroids, which are the mainstay of therapy. Cochlear implants may ameliorate this deficit, but may not be readily available because of financial constraints in the Indian subcontinent. A high index of suspicion and multispecialty coordination will help in the early initiation of therapy and reduce long-term morbidity. We report a case of this rare entity where the recovery of deficits was dramatic on initiation of high-dose steroids. Singh, P. Gupta, M. Lehl, S. S. Singh, K. 2013-05-22 doi:10.1136/bcr-2013-008951 Cogan's syndrome: achievement of complete resolution of auditory deficit with steroids BMJ Publishing Group Ltd MAY22_1 2013 201300895 2013-05-22 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/may20_1/bcr2013009019?rss=1 Living with fibromyalgia means living with chronic pain, fatigue, sleep disorders and other associated key symptoms. To date, pharmacotherapy generally produces modest benefits. Some observations indicate that the large majority of symptoms of fibromyalgia could be the clinical manifestation of a mild thiamine deficiency due to a dysfunction of the active transport of thiamine from the blood to the mitochondria or to enzymatic abnormalities. Between June and July 2011, we recruited three female patients affected by fibromyalgia. We proceeded with the study of the patients' history, a physical examination, an evaluation of chronic widespread pain using the Visual Numeric Scale and an evaluation of the fatigue using the Fatigue Severity Scale were also performed. The levels of thiamine and thiamine pyrophosphate in the blood were determined. After the therapy with high doses of thiamine, in the patients, there was an appreciable improvement of the symptoms. Costantini, A. Pala, M. I. Tundo, S. Matteucci, P. 2013-05-20 doi:10.1136/bcr-2013-009019 High-dose thiamine improves the symptoms of fibromyalgia BMJ Publishing Group Ltd MAY20_1 2013 201300901 2013-05-20 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/may03_1/bcr2013008656?rss=1 Granulomatosis with polyangiitis (GPA) is a small vessel vasculitis that can affect several organs, most commonly the respiratory tract and kidneys. Pituitary involvement is exceptionally rare. Most case reports of GPA of the pituitary gland have been described in middle-aged women who have concomitant ears, nose and throat involvement. The most frequent manifestation is diabetes insipidus due to a preponderance of posterior pituitary infiltration. The majority of cases sustain permanent damage to the pituitary gland even with remission of the underlying granulomatous disease. Here, the authors describe a case of pituitary GPA involving both the anterior and posterior pituitary glands with permanent residual pituitary insufficiency. Slabu, H. Arnason, T. 2013-05-03 doi:10.1136/bcr-2013-008656 Pituitary granulomatosis with polyangiitis BMJ Publishing Group Ltd MAY03_1 2013 201300865 2013-05-03 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/may02_1/bcr2013009386?rss=1 Frequency of temporomandibular joint (TMJ) involvement in patients with ankylosing spondylitis (AS) has varied from 4% to 35%. It is more common in men and produces generalised stiffness in involved joints. Clinician should be suspicious of AS when a patient reports with painful restricted movements of joint, neck or back and with no trauma history. Conventional radiographic methods have allowed the demonstration of TMJ abnormalities in patients with AS, but CT is necessary to establish joint space relations and bony morphology. We describe a case of severe AS with TMJ involvement in a 40-year-old female patient and demonstrated TMJ changes on CT. A CT was able to demonstrate articular cartilage changes, disc- and joint abnormalities. Thus, if conventional radiographs in a symptomatic patient with rheumatic diseases are unable to demonstrate changes, CT can provide valuable additional information of the changes in the TMJ. Arora, P. Amarnath, J. Ravindra, S. V. Rallan, M. 2013-05-02 doi:10.1136/bcr-2013-009386 Temporomandibular joint involvement in ankylosing spondylitis BMJ Publishing Group Ltd MAY02_1 2013 201300938 2013-05-02 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/may02_1/bcr2013009516?rss=1 Rheumatoid arthritis (RA) is a multisystem inflammatory disease characterised by destructive synovitis and varied extra-articular involvement. Rheumatoid lung nodules are the most common pulmonary manifestations of RA. Rheumatoid nodules in mediastinal lymph nodes are extremely uncommon. We describe a male patient with long-standing RA and subcutaneous rheumatoid nodules presenting with multiple lung nodules and mediastinal lymphadenopathies. Definite histopathology of a lymph node was consistent with necrobiotic granuloma due to RA. Clinicians should be aware of rheumatoid nodules as a potential cause of mediastinal lymphadenopathies, mainly in advanced rheumatoid arthritis. Yachoui, R. Ward, C. Kreidy, M. 2013-05-02 doi:10.1136/bcr-2013-009516 A rheumatoid nodule in an unusual location: mediastinal lymph node BMJ Publishing Group Ltd MAY02_1 2013 201300951 2013-05-02 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/may02_1/bcr2013009884?rss=1 Description A 49-year-old woman with a medical history of hypertension and rheumatoid arthritis presented with severe bilateral hand pain due to arthritis. She was diagnosed with rheumatoid arthritis at the age of 20 years and has been on anti-inflammatory medications and steroids since then. She was treated with methotrexate for a short period of time, but this was stopped due to gastrointestinal intolerance. She has been on prednisone and ibuprofen only for the last 15 years and has been a nursing home resident for the last 5 years due to severe hand deformities and inability to use her hand to take care of herself. On examination, she had a remarkable hand deformity significant for ulnar deviation, boutonniere deformity, swan neck deformity and Z-thumb resulting in permanent deformity and impaired functioning (figures 1 and 2). After admission, she was started on higher dose ... Harb, A. Shawwa, K. Alraiyes, A. H. Alraies, M. C. 2013-05-02 doi:10.1136/bcr-2013-009884 Severe rheumatoid arthritis hand deformity BMJ Publishing Group Ltd MAY02_1 2013 201300988 2013-05-02 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr30_1/bcr2013009354?rss=1 A 49-year-old woman had blurred vision and floaters of 4 days duration in the right eye. Ocular examination revealed granulomatous panuveitis, vitritis and diffuse retinal vasculitis. Following a strongly positive tuberculin skin test, she received antitubercular therapy with oral steroids and immunosuppressants. A year later, despite therapy, vitritis and vasculitis persisted. Additionally, yellowish white lesions appeared beneath the retinal pigment epithelium. Fluorescein angiography revealed a leopard skin appearance. Following a negative vitreous biopsy, she was subjected to a chorioretinal biopsy which revealed non-Hodgkin's lymphoma. MRI was normal. The ocular lesions resolved following intravitreal methotrexate injections. MRI of the brain was repeated every 3 months to rule out central nervous system (CNS) involvement. About 2.5 years after initial presentation, she complained of ataxia, hypersomnia and speech difficulty. MRI of the brain now showed lesions in the thalamocapsular region and the corpus callosum splenium suggestive of CNS lymphoma. She underwent a whole brain radiation with symptomatic improvement followed by chemotherapy. Katoch, D. Bansal, R. Nijhawan, R. Gupta, A. 2013-04-30 doi:10.1136/bcr-2013-009354 Primary intraocular central nervous system lymphoma masquerading as diffuse retinal vasculitis BMJ Publishing Group Ltd APR30_1 2013 201300935 2013-04-30 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr29_1/bcr2013009344?rss=1 Behcet's disease (BD) is characterised by the triad of recurrent oral and genital aphthous ulceration, skin lesions and ocular inflammation. This disease frequently affects other systems including neurological, locomotor, cardiac or vascular systems. Recurrent oral and genital aphthous ulcerations are the hallmarks of BD. We hereby report a case of rapidly evolving and aggressive form of BD in a young man presenting with extensive ulcerative lesions in orogenital region leading to obstructive uropathy resulting in acquired urethral meatal stenosis due to inflammatory activity. Ghosh, S. Kumar, M. Kumari, P. Gadpayle, A. K. 2013-04-29 doi:10.1136/bcr-2013-009344 Acquired urethral meatal stenosis: a rare sequel of an aggressive form of Behcet's disease BMJ Publishing Group Ltd APR29_1 2013 201300934 2013-04-29 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr25_1/bcr2013009045?rss=1 Granulomatosis with polyangiitis is a rare type of vasculitis that affects small-sized and medium-sized vessels. Any organ system can become affected, but it most commonly affects the upper airways, lungs and kidneys. The 1-antitrypsin deficiency is another rare disease that involves a genetic deficiency in the enzyme antitrypsin, which is produced in the liver and protects the lung against proteinases. The simultaneous occurrence of these two diseases is very rare and has been described. We present a case of granulomatosis with polyangiitis limited to the upper airways, and 1-antitrypsin deficiency occurring in the same patient. The patient presented with recurrent upper airway infections. The patient was treated with steroids and azathioprine which prevented recurrence of symptoms. High clinical suspicion of the concomitant occurrence of 1-antitrypsin deficiency in patients with vasculitis is essential to provide patients with adequate screening and treatment. Inaty, H. Arabelovic, S. 2013-04-25 doi:10.1136/bcr-2013-009045 {alpha}1-Antitrypsin deficiency in a patient diagnosed with granulomatosis with polyangiitis BMJ Publishing Group Ltd APR25_1 2013 201300904 2013-04-25 CASE-REPORT http://casereports.bmj.com/cgi/content/short/2013/apr25_1/bcr2013009086?rss=1 Description A 74-year-old woman was seen in outpatients with left hip pain in keeping with osteoarthritis. Clinical examination revealed an antalgic gait, decreased range of movement, marked crepitus within the joint and normal leg lengths. x-Ray revealed the cardinal signs of osteoarthritis (figure 1) and she was boarded for a total hip replacement. On admission 9 months later, her main complaint was of a worsening limp with leg length discrepancy. Examination revealed a true leg length discrepancy of 3 cm. A repeat x-ray revealed total erosion of her left femoral head (figure 2). Inflammatory markers were normal and a myeloma screen was negative. Following work-up, she proceeded to total hip replacement (figure 3). Histology of the femoral head showed no evidence of malignancy. ... Marley, W. D. Ruiz, A. 2013-04-25 doi:10.1136/bcr-2013-009086 Rapidly progressive osteoarthritis presenting as acute limb shortening BMJ Publishing Group Ltd APR25_1 2013 201300908 2013-04-25 CASE-REPORT