Modern rheumatology case reports最新文献

Granulomatosis with polyangiitis (GPA) rarely involves the urological system. Herein, we report the case of a 71-year-old man with GPA who presented with frequent urination and a computed tomography detected low-density area in the enlarged prostate, suggesting an abscess. The initial prostate biopsy revealed necrotic tissue consistent with a prostate abscess, with severe destruction ultimately leading to a bladder fistula. However, upon further review of the pathology samples, multinucleated giant cells were identified, raising suspicion for GPA. Further history revealed bloody nasal discharge, and biopsy results from a lung mass also indicated GPA. Based on these findings-along with sinusitis and proteinase-3-anti-neutrophil cytoplasmic antibody positivity-the diagnosis of GPA was made. Our patient was treated with steroid pulse therapy; however, disease progression could not be controlled, and he died suddenly due to haemorrhagic cerebral infarction. Autopsy revealed granulomas in the lungs and spleen, crescentic glomerulonephritis in the kidneys, and haemorrhagic infarction with an embolised fibrin clot in the brain. Urogenital lesions in GPA can be challenging to diagnose due to their nonspecific presentation, and clinicians should consider GPA in patients presenting with unexplained prostatitis and systemic symptoms, as early diagnosis and treatment could prevent unnecessary surgeries and improve prognosis.

Systemic lupus erythematosus (SLE) can present with various symptoms, including rare manifestations such as gangrene. This report describes a 12-year-old girl with SLE who presented with intermittent claudication and gangrene. Although intermittent claudication is rare in paediatric cases, it is essential to consider vascular diseases including those associated with SLE as a potential cause. The patient initially experienced pain, redness, and cold sensations in the right great toe accompanied by intermittent claudication, with symptoms worsening over time. Diagnostic imaging, including contrast-enhanced computed tomography and magnetic resonance imaging, revealed occlusion of the right popliteal artery with associated vasculitis and thrombosis. The diagnosis of SLE and antiphospholipid syndrome was confirmed based on clinical criteria. Treatment included prednisone, methylprednisolone pulse therapy, mycophenolate mofetil, hydroxychloroquine, and anticoagulants. The patient showed significant improvement, with resolution of claudication and effective management of her gangrene through immunosuppressive therapy and careful wound care. This case highlights the importance of considering vascular complications in paediatric SLE and underscores the need for early diagnosis and comprehensive treatment.

A previously healthy 22-year-old female presented with complaints of fatigue, joint pain, headache, fever, and night sweats for several months. She also reported a reddish painful left eye and a rash on her legs 2 months ago. On examination, her blood pressure was elevated at 160/100 mmHg and her lower limb pulses were hardly palpable. On investigation, she had anterior and intermediate uveitis, nasal septal ulcer, proteinuria, positive cytoplasmic anti-neutrophil cytoplasmic antibodies (C-ANCA), and a computed tomography angiography showed multiple abdominal aortic aneurysms and occlusion of both the left common carotid artery and the right superficial femoral artery. Lymph node biopsy showed necrotising granulomatous inflammation. The patient was diagnosed with granulomatosis with polyangiitis (GPA) with large-vessel involvement, which is a rare finding.

Peripheral neuropathy is a complication in systemic sclerosis (SSc) that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with SSc that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests. A 44-year-old Japanese man diagnosed with SSc presented with gradually worsening paresthesia and gait disorder. A nerve conduction study and histological examination of a biopsy sample from the left sural nerve, where the nerve conduction study indicated abnormalities, revealed findings consistent with peripheral neuropathy associated with SSc. The results of blood tests or cerebrospinal fluid analysis did not indicate significant inflammatory findings, aside from a slight elevation in protein levels in the cerebrospinal fluid. Similarly, the histological analysis of the nerve biopsy showed no signs of inflammation. T2-weighted magnetic resonance imaging of the lumbar region revealed hyperintensity at the nerve roots, suggesting inflammation at the nerve roots. Based on these findings, we initiated corticosteroid therapy, which led to an improvement in both the patient's symptoms and results in the nerve conduction study. This case provides new insights into the pathogenesis of peripheral neuropathy associated with SSc and highlights that the potential benefits of immunosuppressive therapy should not be overlooked, even in the absence of conventional inflammatory signs.

Jaccoud's arthropathy is a deforming, nonerosive form of arthritis initially described in patients with rheumatic fever. However, it has been recently observed more frequently in those with systemic lupus erythematosus. Cases of Jaccoud's arthropathy have also been described to be associated with other conditions. Herein, we describe the case of a 64-year-old Brazilian man who exhibited Jaccoud's arthropathy associated with leprosy. To the best of our knowledge, this is the first report on this association.

Juvenile dermatomyositis (JDM) is the most popular subtype of juvenile idiopathic inflammatory myopathies clinically characterised by skin manifestations and myositis. Some patients with JDM present predominantly with skin symptoms without significant muscle weakness. Furthermore, some patients exhibit residual skin disease even after showing improvement of muscle symptoms with systemic glucocorticoids (GCs) and immunosuppressants. Topical GCs and/or tacrolimus are recommended for the patients with skin predominant JDM. Furthermore, systemic use of GCs and methotrexate (MTX) are indicated in refractory cases. However, some patients show refractory skin disease to even systemic use of GCs and MTX. Hydroxychloroquine (HCQ) has been reported to improve skin manifestations associated with JDM and is used globally for JDM. However, HCQ is not approved by the Ministry of Health, Labour and Welfare of Japan for treatment of JDM. Herein, we report two patients with JDM presenting with residual skin disease after taking systemic GC and immunosuppressants, which was successfully treated with HCQ. HCQ was effective for treating a case with skin symptoms without significant muscle weakness at relapse and for a case with residual skin symptoms after showing improvement of muscle symptoms with systemic GCs and immunosuppressants. No adverse events were observed in their clinical courses. Thus, HCQ may be an effective choice as an adjunctive therapy for refractory skin symptom-dominant JDM.

We describe a rare case of thrombocytopenia, anasarca, fever, reticulum fibrosis, and organomegaly (TAFRO) syndrome that developed after the second vaccination against SARS-CoV-2 (mRNA1273, manufactured by Moderna Co.) in a healthy 26-year-old male. He developed a prolonged high fever and intermittent non-localised abdominal pain soon after vaccination followed by impaired renal function and thrombocytopenia; as well as assumed cytokine storm due to serum levels of triglyceride and total cholesterol, and high serum levels of ferritin, soluble interleukin 2 receptor, soluble CD14, interleukin 6, and vascular endothelial growth factor. Based on these findings, the patient was diagnosed with TAFRO syndrome. His condition was refractory against glucocorticoid, tocilizumab, and rituximab, and temporary haemodialysis was necessary. We speculate that the mRNA vaccine triggered a modification of the immune system and caused the development of TAFRO syndrome.

The safety of belimumab during pregnancy, particularly in the third trimester, remains unclear. This study aimed to assess the placental and breast milk transfer of belimumab in pregnancies complicated by systemic lupus erythematosus and to evaluate immunological effects and vaccination responses in offspring. We prospectively followed three patients with systemic lupus erythematosus who received belimumab throughout pregnancy. Belimumab concentrations were measured in maternal serum, cord blood, breast milk, and neonatal serum, along with infant development and vaccination histories. Belimumab was continued throughout pregnancy to control refractory thrombocytopenia in two cases and haemolytic anaemia in one case. All patients delivered full-term infants without obstetric complications. Overall, belimumab concentrations in cord blood and neonatal serum were comparable to those in the maternal serum, suggesting transplacental transfer. A decrease in peripheral B and transitional B cells was observed in all neonates at birth, while serum IgG levels and peripheral T cell counts were within normal ranges. Only one infant was diagnosed with a complication (left vesicoureteral reflux). Belimumab concentrations in breast milk were low, and no adverse events occurred in the vaccinated infants. Continuation of belimumab throughout pregnancy may be an option to control refractory disease activity and achieve successful outcomes in pregnancies complicated by systemic lupus erythematosus. However, careful monitoring during pregnancy and postnatal follow-up is essential to ensure safety, given that belimumab can be transferred to the placenta, detected in the neonatal peripheral blood, and affect the neonatal lymphocyte subset counts at birth.

Ankylosing spondylitis (AS) is a chronic inflammatory disease that typically affects the axial skeleton. Renal involvement is rare in AS, only occurring in 5-13% of AS patients. Membranous nephropathy (MN) in patients with AS is extremely rare. There have been only a few cases showing the association between MN and AS. Herein we report a case of AS-associated MN in a 47-year-old male. He was diagnosed with AS-associated MN after renal biopsy, and he was treated with corticosteroids and cyclophosphamide. His low back pain and oedema disappeared gradually and serum albumin and urine protein excretion significantly improved after treatment. In clinical practice, AS patients with proteinuria or renal dysfunction should be evaluated for MN through ‌serum anti-phospholipase A2 receptor autoantibody (anti-PLA2R antibody) testing‌ and ‌renal biopsy‌ to confirm diagnosis.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs, including the kidneys, skin, vasculature, and central nervous system. Neuropsychiatric SLE (NPSLE) is a potentially life-threatening manifestation with diverse clinical presentations. We report a case of NPSLE presenting as myelitis in which contrast-enhanced spinal MRI showed no intramedullary abnormalities on repeated examinations ('MRI-negative myelitis'). The patient received high-dose intravenous glucocorticoids (GCs) and intravenous cyclophosphamide as induction therapy, after which anifrolumab was introduced; GCs were rapidly tapered with sustained neurological improvement. MRI-negative myelitis is a rare and diagnostically challenging NPSLE phenotype that requires a high index of suspicion. This case suggests that anifrolumab may have GC-sparing potential as part of maintenance management following induction therapy in selected patients, warranting further investigation.