Case Reports in Rheumatology最新文献

McArdle disease or glycogen storage disease Type V is a genetic condition caused by PYGM gene mutations leading to exercise intolerance and fatigability. The condition most commonly presents in childhood. In rare cases, patients have presented with late-onset McArdle disease. We present a case of a 64-year-old male presenting with myalgia who was initially presented with polymyalgia rheumatica-type symptoms of proximal muscle pain and a response to steroids. At review, his background musculoskeletal symptoms were evaluated in detail. Following a muscle biopsy, skeletal muscle enzymatic assay, and genetic testing, he was diagnosed with late-onset McArdle's disease (homozygous PYGM genotype). The importance of recognition and early diagnosis is highlighted to enable the accurate diagnosis and conservative lifestyle advice, with the avoidance of other medical therapies for other disease mimics.

The only way to mitigate the spread of coronavirus disease 2019 (COVID-19) pandemic was vaccines. While effective in decreasing the rate and severity of the disease, there also have been considerable adverse events. Since the birth of vaccines, adverse reactions accompanied the immunity, and COVID-19 vaccines are no exceptions. This is a report about a 52-year-old female patient who presented with bilateral redness of the eyes, with normal bilateral visual acuity, postbooster dose of the Sinopharm COVID-19 vaccine. She had no significant past history of any disease or any similar reactions after previous doses. All her physical examinations were normal. Ophthalmic examination disclosed diffuse erythema, and mild scleral edema consistent with bilateral anterior diffused scleritis with negative phenylephrine test. Thereafter, with a course of tapering doses of prednisolone (30 mg at the onset) combined with azathioprine (100 mg/day), over a 2-week period, the condition completely resolved. Very few vaccination-related adverse events may manifest an unrecognized underlying autoimmune vasculopathy which may also require urgent management. As in this case, ocular adverse events, as highlighted, are highly associated with undiagnosed autoimmune diseases and therefore warrant careful assessment by clinicians.

We reported a 10-year-old girl who had an atypical demyelinating disease as the presentation of her neuropsychiatric lupus. The patient had a 4-year history of systemic lupus erythematosus which had been on remission until she presented with fever and headache at the age of 10 years. Physical examination showed meningism. Extensive microbiological workup for infective meningitis was unrevealing. There was a radiographic finding of an extensive white matter hyperintensity on the magnetic resonance imaging (MRI) of the brain. At the initial stage of our case, as it was difficult to differentiate between infection of the central nervous system and neuropsychiatric manifestation of lupus, a course of intravenous immunoglobulin was given empirically instead of high-dose corticosteroid while awaiting the microbiological workup results. The fever and headache subsided shortly after commencement of intravenous immunoglobulin without use of pulse corticosteroid. After the active neurological symptoms remitted, she was given a total of six monthly doses of intravenous immunoglobulin at 2 g/kg/cycle and six biweekly doses of intravenous cyclophosphamide at 500 mg/m²/month. Interval MRI showed resolution of the white matter hyperintensity. Despite the extensive demyelinating disease on initial presentation, she remitted successfully without residual neurological sequelae.

Tumor necrosis factor alpha inhibitors (TNFi) are biological drugs used worldwide to treat various autoimmune disorders. Paradoxically, TNF-α antagonists can also induce autoimmune diseases being systemic vasculitis, systemic lupus erythematosus, and psoriasis, the most common. We present a 22-year-old woman with ulcerative colitis (UC) who was started on adalimumab 40 mg subcutaneously every 2 weeks. After two doses of adalimumab, she developed gangrene of all toes and acute kidney injury requiring hemodialysis. Skin biopsy showed thrombi in the small vessels of the dermis. Renal biopsy disclosed diffuse proliferative glomerulonephritis (GN) and acute tubulointerstitial nephritis. Serologic work-up showed positive IgG anticardiolipin (ACL) antibodies and low C3 levels. Antinuclear, anti-dsDNA, anti-Smith, anti-SSA, anti-SSB, anti-RNP, antineutrophil cytoplasmic antibodies, ACL (IgA and IgM), and anti-β2-glycoprotein I (IgG, IgM, and IgA) antibodies were not elevated. Lupus anticoagulant test and cryoglobulins were negative. Adalimumab was discontinued, and she was treated with enoxaparin, intravenous (IV) methylprednisolone pulse, IV cyclophosphamide, and plasmapheresis followed by maintenance therapy with warfarin, prednisone, azathioprine, and hydroxychloroquine. She did not have further thrombotic events, and the acute kidney injury completely resolved. ACL IgG antibodies decreased to normal levels, and repeated tests were negative. After 7 years, anticoagulation and immunosuppressive drugs were discontinued. During a follow-up of 24 months, she remained in complete clinical remission. This report highlights the occurrence of autoimmune disorders induced by TNFi. Thus, careful monitoring of adverse immune reactions to TNFi is highly recommended.

This case represents the first diagnosis of pachymeningitis due to granulomatosis with polyangiitis (GPA) in an elderly Iranian man who initially presented with persistent daily headaches. PCR tests of cerebrospinal fluid for tuberculosis, brucellosis, and fungal infections all yielded negative results. Given the pachymeningitis pattern observed on brain MRI and the absence of infectious and lymphoma diseases, along with positive anti-PR3 and proteinuria (793 mg in a 24-h urine sample), a diagnosis of GPA was established. The patient was treated with five doses of pulse methylprednisolone and one dose of pulse cyclophosphamide (1 g). Additionally, prednisolone 60 mg daily, monthly pulse cyclophosphamide, a daily calcium-D tablet, and alendronate 70 mg weekly were prescribed. Subsequently, the patient's headaches, hearing loss, and vision loss were completely resolved. GPA should be considered in older individuals with persistent daily headaches, especially when pachymeningitis is evident. The use of contrast-enhanced brain MRI is an essential diagnostic tool in such cases.

SAPHO syndrome, a rare inflammatory disorder of bone, joints, and skin, is named based on the presence of synovitis, acne, pustulosis, hyperostosis, and osteitis. The hallmark of SAPHO syndrome includes osteoarticular and dermatologic manifestations, however, rarer associations with inflammatory bowel disease (particularly Crohn's disease) have been documented. The literature on the relationship between SAPHO syndrome and inflammatory bowel disease (IBD), especially ulcerative colitis (UC), remains limited. We report an unusual case of SAPHO syndrome in a patient with UC. Chest x-ray and MRI showed enlargement of the right first rib and adjacent sternum. Bone scintigraphy revealed hyperostosis and ankylosis of the costochondral junction, and bone biopsy revealed reactive bone and costal cartilage without findings of infection or malignancy. Complete resolution of symptoms was achieved 4 months after starting zoledronic acid without significant adverse events. The diagnosis of SAPHO syndrome in IBD patients is rare, even more so in UC patients, likely attributable to underdiagnosis given the clinical heterogeneity of SAPHO syndrome and overlap with the extra-intestinal manifestation of IBD. Our treatment approach provides critical data to the underreported literature on diagnosis and managing SAPHO syndrome in UC.

Giant cell arteritis (GCA) is a chronic granulomatous vasculitis of medium and large arteries leading to cranial and extracranial manifestations. Temporal artery biopsy is considered the gold standard; however, its sensitivity is low at 47%. We report a unique case of Bing-Neel Syndrome (BNS) presenting as biopsy-proven GCA. BNS is a rare complication (1%) of Waldenstrom Macroglobulinemia (WM), which results from infiltration of lymph plasmacytoid cells and plasma cells into the central nervous system. A 77-year-old female with a past medical history of glaucoma, hypertension, diabetes, and chronic ocular ischemic syndrome in her right eye presented with progressive left eye vision loss for 5 days. Fundoscopic examination was notable for pseudophakic pseudopallor but no optic disc edema. Intraocular pressure was >40 and normalized after acetazolamide. The patient was started on pulse dose steroids by her neuro-ophthalmologist. She was discharged home on 60 mg of prednisone. At follow up with her neuro-ophthalmologist, new dot blot hemorrhages in the left eye were noted and she was readmitted for pulse dose of intravenous methylprednisolone. Temporal artery biopsy was consistent with GCA spectrum. Work up revealed paraproteinemia and subsequent bone marrow biopsy demonstrated WM. The patient was treated for her WM and her ophthalmic complications stabilized.

Idiopathic inflammatory myositis (IIM) is an expanding field in rheumatology as more myositis-specific antibodies (MSAs) and myositis-associated antibodies (MAAs) become available for testing. Clinical signs and specific clinical phenotypes are found in the MSA group, with as high as 70% of IIM patients having a positive myositis-specific antibody. Although IIM remains a heterogenous disease, assigning a phenotype to these patients will prove to be critical as we learn which cases require more aggressive therapy and what complications to search for as the disease progresses. The IIM patients for the last 5 years were reviewed and profiled using recently available myositis profile testing at our National Health Laboratory Services. Patients from our rheumatology clinic were categorized according to this antibody profile. Three cases diagnosed with dermatomyositis (DM) were selected for discussion in this article which include a patient with each of the following: anti-transcriptional intermediary factor 1-y (TIF1y) DM, anti-melanoma differentiation-associated protein 5 (MDA 5) DM, and anti-signal recognition particle (SRP) DM.

Pyomyositis, accompanied by aseptic arthritis, has been previously documented in several publications. However, none of the authors in the mentioned case reports offered a pathophysiological explanation for this unusual phenomenon or proposed a treatment protocol. We present a case of a healthy, 70-year-old male who was presented to the emergency department 4 days after tripping over a pile of wooden planks and getting stabbed by a nail to his thigh. The right thigh was swollen. Unproportional pain was produced by a light touch to the thigh. A laboratory test and a CT scan were obtained. The working diagnosis was pyomyositis of the thigh and septic arthritis of the ipsilateral knee. The patient underwent urgent debridement and irrigation of his right thigh. An arthroscopic knee lavage was performed as well. Intraoperative cultures from the thigh revealed the growth of Streptococcus pyogenes and Staphylococcus aureus. Cultures from synovial fluid were sterile; thus, septic arthritis was very unlikely. The source of the knee effusion might have been an aseptic inflammatory response due to the proximity of the thigh infection. Anatomically, the quadriceps muscle inserts on the patella, and its tendon fuses with the knee capsule, creating a direct fascial track from the thigh to the knee. The inflammatory response surrounding the infection may have followed this track, creating a domino effect, affecting adjacent capillaries within the joint capsule, and causing plasma leakage into the synovial space, leading to joint effusion. Our suggested treatment is addressing the primary infection with antibiotics and considering adding anti-inflammatory therapy, given our suspicion that this process has an inflammatory component.