Blau syndrome with NOD2 mutation in a 54-year-old man: A case report

Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical history and genetic analysis. This case report will further help clinicians to be aware of this rare clinical entity for correct diagnosis and proper treatment.     

Coexistence of diffuse idiopathic skeletal hyperostosis and ankylosing spondylitis: a case report

Diffuse idiopathic skeletal hyperostosis and ankylosing spondylitis are two diseases which are listed in the differential diagnosis of each other. There have been limited numbers of case reports regarding the coexistence of both diseases in the literature. We describe a patient who demonstrated the features of diffuse idiopathic skeletal hyperostosis with coexisting features resembling ankylosing spondylitis in order to discuss the association of the two diseases. Received: 22 March 2001 / Accepted: 17 November 2001     

Clodronate in myelofibrosis: a case report

A 59-year-old man had well-documented agnogenic myeloid metaplasia (AMM) with pancytopenia. Frequent blood transfusions were required over a 10-month period. Androgen therapy was not beneficial and treatment with interferon resulted in severe thrombocytopenia with no decrease in transfusion requirements. Treatment with clodronate at a daily oral dose of 30 mg/kg resulted in a marked decrease in bone marrow fibrosis, and gradual normalization of blood counts over an 8-month period. He has been transfusion independent for the last 33 months. We support the findings of a previous case report that oral bisphosphonate therapy may be of value in patients with AMM.     

Arteriovenous fistula of the kidney: a case report of 47-year-old female patient treated by embolisation

Arteriovenous fistulas of the kidney are rare. They may be acquired, idiopathic or arise in congenital arteriovenous malformations. There are only few reports in the current literature describing the successful embolisation of idiopathic arteriovenous fistulas. We report a 47-year-old hypertensive female patient with a successfully embolised arteriovenous fistula. Diagnosis was made on the basis of colour duplex Doppler examination and this method enabled further successful embolisation of the fistula.     

Diffuse idiopathic skeletal hyperostosis in a patient with idiopathic retroperitoneal fibrosis: a case report

Idiopathic retroperitoneal fibrosis (IRF) is a rare rheumatologic disease with obscure pathogenesis. Its manifestations depend upon the structures involved. Diffuse idiopathic skeletal hyperostosis (DISH) is usually seen in male patients over 45 years of age and characterized by new bone formation at the entheses. The dorsal spine is most commonly involved, but radiographic findings in both the spine and extraspinal structures suggest a generalized disorder of ossification rather than a localized spinal disease. The association of IRF and DISH has not been reported before. There is proliferation of connective tissue in both of these diseases, and they may share a common etiopathogenetic basis. We describe a patient having features of both IRF and DISH.     

Hyperhaemolysis syndrome in a patient with myelofibrosis

Hyperhaemolysis syndrome is well recognised in patients with sickle cell disease and beta-thalassaemia major, but has not been described in patients with other haematological diseases. We describe a case of fatal post-transfusion hyperhaemolysis occurring in a lady with myelofibrosis evolving into acute myeloid leukaemia. No free antibodies were identified in either pre- or post-transfusion serum samples. Since her haemoglobin (Hb) level after the reaction was very much lower, than of would have been the case if only the transfused red cells had haemolysed, it seems likely that this severe haemolytic transfusion reaction was an example of the so-called hyperhaemolysis syndrome.     

迁延26年原发性骨髓纤维化转化为急性巨核细胞白血病一例分析及文献复习

目的 探讨原发性骨髓纤维化转化为急性巨核细胞白血病患者临床表现、实验室检查特点及骨髓纤维化的预后因素. 方法 对病程迁延26年原发性骨髓纤维化转化为急性巨核细胞白血病老年患者1例临床资料进行分析,转变前后进行骨髓细胞形态学、细胞遗传学及JAK2V617F 点突变检测;使用标准去甲氧柔红霉素+阿糖胞苷、高三尖杉酯碱+阿糖胞苷、米托蒽醌+阿糖胞苷等方案序贯治疗. 结果 转变前后检测患者JAK2V617F点突变均为阳性,染色体均为正常核型.先后予以标准去甲氧柔红霉素+阿糖胞苷、米托蒽醌+阿糖胞苷、高三尖杉酯碱+阿糖胞苷、吡柔比星+阿糖胞苷等方案序贯治疗达到完全缓解后,至今生存良好. 结论 染色体核型与骨髓纤维化的预后相关,核型正常的骨髓纤维化转变为M7经合理化疗后仍能达到完全缓解.     

Antiphospholipid syndrome in a patient with sarcoidosis: a case report

We report the case of a 72-year-old female with sarcoidosis who developed a central retinal artery occlusion in her left eye in association with persistently high titers of IgG anti-cardiolipin antibodies. Only two previous cases of antiphospholipid antibody syndrome in association with sarcoidosis have been reported. Our patient's vision stabilized on anti-coagulant therapy along with concomitant treatment of sarcoidosis-related uveitis with methotrexate.     

Fraser syndrome in a 96-year-old female

Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). We report the clinical, laboratory and post-mortem findings of this condition in an elderly woman aged 96 years. She is the oldest known patient with Fraser syndrome.     

α-Interferon in myelofibrosis: a case report

Summary. A patient with advanced myeloid metaplasia was treated with α-interferon (29 months) with a remarkable response. He had anaemia, thrombocytopenia and hepatosplenomegaly with infarction. The initial bone marrow showed replacement with fibrosis with no evident haemopoietic cells. Post-therapy, the patient became asymptomatic, transfusion independent and had normal blood counts. The repeat bone marrow was 30% cellular with 1 + reticulin and no fibrosis. Treatment was well tolerated without appreciable side-effects. These results indicate that prolonged therapy with α-interferon can improve haemopoiesis and reverse marrow fibrosis.     

Coexistence of ankylosing spondylitis and rheumatoid arthritis in a female patient

Ankylosing spondylitis (AS) and rheumatoid arthritis (RA) are two distinguished representatives of inflammatory rheumatic diseases. The two diseases differ significantly in their etiology, pathology, clinical signs, and in the nature of articular manifestations. Their association has been a rarity in the literature. Here, authors describe a case of a 55-year-old female patient with AS associated with RA. Her spinal symptoms started in 1979, and the diagnosis of AS was established based on the typical clinical picture and X-ray. She developed severe spinal deformity during the next decades. In 2005, peripheral polyarthritis developed, although neither the diagnosis nor the treatment was modified. In 2007, authors diagnosed seropositive RA. Therapy included anti-inflammatory therapy and traditional disease-modifying agents, eventually followed by biological therapy.     

Coexistence of IgA nephropathy and undifferentiated spondyloarthropathy in a female patient

We report a female patient with IgA nephropathy associated with undifferentiated spondyloarthropathy. The patient manifested proteinuria and microhematuria and was diagnosed as having IgA nephropathy based on the histopathologic findings of the renal biopsy. Two years later, the bone X-ray demonstrated syndesmophytes and multiple calcifications in the ligament and tendon insertions, suggestive of long-term enthesitis, but the patient had occasionally noticed mild lumbago up to the time she visited our hospital, with spontaneous pain in the bilateral shoulders and lower back. IgA nephropathy can be concomitant with a mild form of seronegative spondyloarthropathy in women. Possible association of this disorder should be carefully checked in patients with IgA nephropathy irrespective of clinical symptoms suggesting the arthropathy, particularly in women.     

特发性血小板减少性紫癜合并抗磷脂抗体综合征患者ACS后成功PCI术1例

1 病例资料患者,女,71岁,因胸闷1d,突发晕厥1次入院.患者本次入院为1d前(上午10时许)活动时出现压迫性胸骨中段胸闷,伴左侧手臂痛,出冷汗,伴头晕恶心,家属急送至我院急诊(约14:00时),患者于急诊门口突发晕厥,心电监护提示心室颤动,立即予心肺复苏、电除颤,10余分钟后好转,急查肌钙蛋白7.52 ng/...