Tuberculous Spondylitis (Pott’s Disease)

A 46-year old Caucasian male nurse presented with a 12-month history of myalgias and leg weakness, remitting thoracic and lumbar back pain, fever, weight loss and night sweats. Blood tests revealed elevated inflammatory activity and anemia. Suspecting vasculitis, an 18F-fluorodeoxyglucose positron-emission tomographic (18FDG-PET) scan was performed, which demonstrated enhanced uptake in the thoracic and lumbar spine (Figure a). Consistent with these findings, computed tomography (CT) of the spine revealed a large paravertebral abscess (Figure b and Figure c, white arrow) as well as severe spondylodiscitis with destruction of the vertebrae Th 7 and L 1 (Figure c, black arrow). Additionally, CT detected osteolytic lesions of the pelvis, multiple pulmonary lesions and mediastinal lymphadenopathy. The paravertebral abscess was drained and histological examination (Figure d, HE, original magnification x 100) demonstrated epitheloidgranulomatous (black arrow) and necrotizing inflammation (white arrow). Polymerase chain reaction and culture of the paravertebral and sputum specimens revealed infection with Mycobacterium tuberculosis. Radiological and microbiological findings thus indicated the diagnosis of tuberculous spondylitis (Pott's disease) resulting from disseminated postprimary pulmonary tuberculosis. Treatment was started with isoniazid, ethambutol, rifampicin and pyrazinamide. Symptoms improved markedly after several weeks and the patient recovered well. CT scans performed after 3, 6 and 9 months demonstrated regression of all lesions.The spine is the most frequent site of osseous tuberculous with predominant affection of the upper lumbar and lower thoracic spine. The infection commonly begins in the anterior part of the vertrebal bodies and subsequently involves the disk space, adjoining ligaments and soft tissues. Spinal tuberculosis is frequently accompanied by paraspinal abscesses.     

Thromboangiitis Obliterans (Buerger’s Disease)

Thromboangiitis obliterans (TAO) is a devastating nonatherosclerotic disease that often leads to digit and limb loss as well as intractable ischemic rest pain. Patients with TAO are uniformly heavy users of tobacco. This disorder is characterized as a miscellaneous form of vasculitis affecting small- and medium-sized arteries and veins. TAO causes painful ischemic ulcers of the digits and unusually painful and inflammatory superficial thrombophlebitis. The key to early diagnosis of TAO is a high clinical index of suspicion in the appropriate patient scenario, exclusion of any other potential cause, abnormal results from an Allen's test, and arteriographic findings of segmental digital arterial occlusions with "corkscrew" collateral vessels. The primary and clearly most effective therapy for TAO is cessation of the use of all tobacco products, with avoidance of any environmental tobacco smoke inhalation. There has been recent enthusiasm for prostaglandin E therapy and the intramuscular injection of angiogenic growth factors. For patients in whom the disease is identified late or for those who are unable to discontinue cigarette smoking, however, a frequent result is multiple limb amputations.     

Acute colonic pseudo-obstruction (Ogilvie’s syndrome)

Opinion statement Acute colonic pseudo-obstruction is a complication that occurs in hospitalized patients with serious underlying medical or surgical conditions; it is characterized by acute colonic dilatation in the absence of mechanical obstruction. The pathogenesis is incompletely elucidated, but changes in autonomic nervous system function are likely to contribute, as are metabolic and pharmacologic factors. Early diagnosis and appropriate intervention are critical in this disorder, which carries with it considerable morbidity and mortality. Treatment options, consecutively applied, include conservative measures, pharmacologic treatment with neostigmine, and endoscopic decompression. Surgical decompression or resection is necessary in case of refractoriness or perforation, respectively.     

赖氏(Reiter’s)综合病征一例

赖氏综合病征是杆菌痢疾的并发症,以非淋菌性尿道炎、结合膜炎、多发性关节炎,为其临床三大特点,此外,还可以有口腔炎、心肌炎、脓性卡他性角皮病(Ke—ratodermia blennorrhagicum)、发热、疲倦及食欲不振等症状。此病极为少见,国外已有报告120篇,国内仅有刘信基氏报告一例。作者遇到一例,并用综合疗法迅速治愈。兹报告于下,以供参考。病历摘要:患者:李×,男性,26岁,职员,已婚,住院号8237,门诊号36668。患者于1957年9月28日开始腹泻,先为稀粪,后则便脓血,量少,有里急后重现象,小腹部疼痛,大便前后加重。食欲不振,周身疲劳。     

Conn’s syndrome (primary hyperaldosteronism) simulating polymyositis

A 44-year-old woman presented with typical polymyositis findings associated with hypokalemia. Abdominal CT as well as plasma renin and aldosterone levels showed a right surrenal adenoma secreting aldosterone. Unilateral adrenalectomy was performed and resolved all the clinical and laboratory manifestations. Hypokalemia should be considered in the differential diagnosis of polymyositis, even in the face of inflammatory cell infiltration in the muscle biopsy.     

肿瘤的高凝状态(Trousseau’s Syndrom)

男性,42岁,因双下肢关节痛4个月,贫血2个月,偏瘫1天。于1986年6月28日入院。自1986年初,无诱因出现双下肢髋、膝关节痛,自服强的松5天好转。同年4月感头晕乏力关节痛加剧,局部无红肿。外院检查三系细胞减少,骨髓干抽,按“再障”治疗无效。于6月初来我院门诊,查体除贫血外无阳性发现。血常规检查三系细胞均低,血片可见中幼粒及晚幼粒细胞。二次骨穿干抽。骨髓活检示:骨质增生,髓腔缩小,纤维组织增生,拟诊骨髓纤维化。给以强的松40mg/日,康力龙每次2mg,每日三次,门     

Leukocytapheresis (LCAP) for treating refractory adult-onset Still’s disease (AOSD)

This is the first report on the efficacy of leukocytapheresis (LCAP) in a patient with refractory systemic-type adult-onset Still's disease (AOSD). A 17-year-old Japanese woman with AOSD who had been treated with prednisolone and cyclosporine A presented with relapse of typical systemic AOSD, including high fever, rash, and liver dysfunction. Steroid pulse therapy (methylprednisolone 500 mg/day) was performed, which failed to stabilize the disease. Therefore, LCAP (twice/week for a total of five courses) was introduced in combination with high-dose steroids plus cyclosporin A. Elevated levels of serum ferritin and transaminases and neutrophil CD64 expression normalized after the patient's disease was successfully controlled by the induction of LCAP. In this case, elevated levels of interleukin (IL)-1β and IL-18 were normalized after LCAP induction, suggesting that LCAP treatment modulates the deregulated cytokine-mediated inflammatory responses observed in AOSD. Our clinical observations suggest that LCAP may be beneficial for flare-up of systemic manifestations of AOSD refractory to conventional treatment, including high-dose steroids and immunosuppressants.     

Neuromyelitis Optica (Devic’s Syndrome): an Appraisal

Neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD), previously known as Devic’s syndrome, are a group of inflammatory disorders of the central nervous system (CNS) characterized by severe, immune-mediated demyelination and axonal damage, predominantly targeting optic nerves and the spinal cord typically associated with a disease-specific serum NMO-IgG antibody that selectively binds aquaporin-4 (AQP4). The classic and best-defined features of NMOSD include acute attacks of bilateral or rapidly sequential optic neuritis (leading to visual loss) or transverse myelitis (often causing limb weakness and bladder dysfunction) or both with a typically relapsing course. The diagnosis of NMO/NMOSD requires a consistent history and examination with typical clinical presentations, findings on spinal cord neuroimaging with MRI, cerebrospinal fluid analysis along with determination of AQP4-IgG serum autoantibody status, and exclusion of other disorders. Two major advances in this field has been the development of diagnostic criteria and treatment recommendations. Consensus diagnostic criteria have been established and were recently revised and published in 2015, enhancing the ability to make a diagnosis and appropriately evaluate these disorders. Expert recommendations and uncontrolled trials form the basis of treatment guidelines. All patients with suspected NMOSD should be treated for acute attacks as soon as possible with high-dose intravenous methylprednisolone ?1 gram daily for three to five consecutive days and in some cases, plasma exchange should be used. It is recommended that every patient with NMOSD be started on an immunosuppressive agent, such as, azathioprine, methotrexate, or mycophenolate and in some cases, rituximab, soon after the acute attack and usually be treated for about 5 years after the attack. These advances have helped improve the prognosis and outcome in these disorders.     

Raynaud’s phenomenon in undifferentiated connective tissue disease (UCTD)

The aim of this study was to ascertain which clinical and immunological factors are associated with Raynauds phenomenon (RP) in patients with undifferentiated connective tissue disease (UCTD) and to investigate microvascular involvement. A total of 78 patients were evaluated. They all showed symptoms suggestive of a connective tissue disorder (CTD), but did not fulfil the criteria for any of the defined CTDs. They all had a disease duration of at least 1 year. Nailfold capillaroscopy (NC) was performed using a computerised videomicroscope. We diagnosed RP in 52.5% of our patients. Patients with RP showed a higher occurrence of oesophageal dysmotility (p=0.001) and anti-ribonucleoprotein (RNP) antibodies (p=0.004) than those without RP. The distinguishing capillaroscopic characteristics of UCTD patients with RP were widened and irregularly enlarged loops (75 and 55%, respectively), giant capillaries (35%), and less than two haemorrhages per finger (40%). The combination of features indicative of a slow scleroderma pattern was present in 18 of 40 patients with UCTD and RP (p=0.0003). Only 3 of the original 78 patients (3.8%) developed a definite CTD. In none of our patients did we observe avascular areas or changes from the original capillaroscopic pattern during follow-up examination. Our study indicates that patients with UCTD would seem to have a benign form of RP, since they show the absence of cutaneous complications, the existence of a mild microvascular damage and a stable nailfold capillary pattern. Further examinations of these patients will be required in order to confirm our findings.     

Glycogenosis Type V (McArdle’s Disease) Mimicking Atypical Myositis

A 13-year-old girl was referred to our clinic because of a positive rheumatoid factor test, muscle pain and weakness. Laboratory evaluation revealed an increased ESR, hypergammaglobulinaemia, antinuclear antibodies, circulating immune complexes, complement consumption and elevated serum creatine kinase (CK) activity. A needle biopsy of the dolent muscle showed normal routine histology. Immunohistochemistry disclosed single lymphocytes and a weak myocytic HLA class I expression. The diagnosis of myositis was considered and corticosteroids were initiated, leading to an increase of complement levels and a decrease of CK-activity and ESR. She subjectively felt stronger but still reported exercise intolerance and metabolic myopathy was considered. Myophosphorylase activity was completely lacking, establishing the diagnosis of McArdle's disease. CK level was found to be elevated in an obese 4-year-old brother too, who refused extensive walking but reported no muscle pain. Myophosphorylase deficiency was demonstrated by histochemistry and by biochemical analysis of his muscle. The female case illustrates that in children with the clinical picture of inflammatory myopathy and serological but not clinical response to therapy underlying metabolic muscle disorders should be excluded. Since the pathogenesis of polymyositis remains unclear, we speculate that inflammatory changes observed in the muscles may have been initiated by muscular damage resulting from the underlying metabolic disease. The serological changes remained unexplained and may contribute to a so far undeterminable connective tissue disease.     

Central nervous system lymphoma in a patient with Sjogren’s syndrome and autoimmune thyroiditis (Hashimoto’s thyroiditis)

We present a case of central nervous system (CNS) lymphoma in a patient with Sjogren’s syndrome (SS) and autoimmune thyroiditis (Hashimoto’s thyroiditis) overlap. A 60-year-old woman, who had the diagnosis of SS for 16 years, had been admitted for visual loss, fever, weight and appetite loss for 3 months. Cranial magnetic resonance imaging was in accordance with CNS lymphoma, and biopsy from right parietal region showed diffuse large B-cell lymphoma of the CNS. This is the first report of diffuse large B-cell lymphoma of the CNS in SS and autoimmune thyroiditis (Hashimoto’s thyroiditis) overlap.     

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It’s all in it!’. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.     

Update on the Treatment of Granulomatosis with Polyangiitis (Wegener’s)

Granulomatosis with polyangiitis (Wegener’s) (GPA), formerly known as Wegener’s granulomatosis, is a systemic vasculitis characterized by involvement of the upper airways, lungs, and kidneys. GPA shares many features with microscopic polyangiitis (MPA), so much so that recent trials have included both vasculitides. This article focuses on GPA only, as complete management includes modalities that are unique to this disease. The current treatment of GPA is stratified based on severity. For those patients who have active but non-severe GPA and do not have contraindications, methotrexate and glucocorticoids can induce and maintain remission. For patients with severe disease, options include glucocorticoids combined with either cyclophosphamide or rituximab. When cyclophosphamide is used, it is given for 3 to 6 months, after which time it is stopped and switched to methotrexate or azathioprine for remission maintenance. In randomized trials, rituximab was found to be as effective as cyclophosphamide to induce remission of severe active GPA. Given the recency of experience with rituximab, there remain a number of questions regarding relapse rate, use of repeat courses, long-term toxicity, and combination with maintenance agents. Until these questions are answered, the choice of whether to use cyclophosphamide or rituximab must be decided between the patient and physician. For patients with relapsing disease who have had prior cyclophosphamide exposure, rituximab is an excellent option. In newly diagnosed patients, the extensive experience with cyclophosphamide and its side effect profile must be weighed against these factors with rituximab. There has been limited experience with rituximab in patients with alveolar hemorrhage requiring mechanical ventilation or rapidly progressive glomerulonephritis requiring dialysis, as these patients were excluded from the largest randomized trial. Until such data become available, cyclophosphamide remains the agent with which there has been the greatest experience for efficacy in these settings.     

Characteristics of patients with systemic lupus erythematosus (SLE) and non-Hodgkin’s lymphoma (NHL)

Patients with systemic lupus erythematosus (SLE) are at increased risk of developing non-Hodgkin’s lymphoma (NHL), but features of SLE associated with NHL are not well described. The objective of this study was to describe SLE characteristics, laboratory serologies, and medication histories in patients who subsequently develop NHL. Two thousand twenty patients with SLE were identified using the online Partners’ patient database research tool between October 1992 and June 2005. We confirmed the diagnoses of SLE and NHL and sought details of medical history and treatment by medical record review. Eleven patients with NHL without coexisting rheumatoid arthritis, Sjögren’s, or HIV were identified; seven of these (64%) had a diffuse large B cell lymphoma subtype, and 83% of those stained were Epstein–Barr virus (EBV) negative. The mean duration of SLE at NHL diagnosis was 17.8 years (range 1.6–41.8), and the mean Systemic Lupus International Collaborative Clinics/American College of Rheumatology damage index was 1.9. Seven patients (64%) had SLE hematologic involvement, four had anti-dsDNA antibodies, and four had anti-phospholipid antibodies. One patient had significant renal disease. All patients had arthritis and had received antimalarial therapy. Five of 11 patients had received other treatments for SLE, including cyclophosphamide, imuran, methotrexate, and/or sulfasalazine. Diffuse large B cell lymphoma was the most common subtype of NHL, and most were EBV negative. Although disease duration was fairly long and end organ damage moderately severe in this group of patients, renal disease and the use of immunosuppressive chemotherapeutic agents were rare and did not appear to confer an increased risk of NHL development.     

Crohn’s disease: a patient’s perspective

Aim As healthcare providers for Crohn’s disease, we assume that we have a good understanding of the disease progression and its symptoms. The aim of this study was to gather information about what patients with Crohn’s disease think are relevant to their symptoms and what helps them cope with this lifelong benign disease. Materials and methods A questionnaire was sent to all patients with a diagnosis of Crohn’s disease seen in the Digestive Disease Center in the last 5 years. The returned forms were downloaded into a database and sent for analysis. Results Sixty-two percent of respondents were female. One third were between the ages of 35 and 50 years. Seventy percent were married. Thirty-eight percent had a graduate degree, 19% were unemployed. Fifty percent still smoked, half of them less than one pack a day. Sixty-eight percent said that their symptoms affected work, and one fourth changed jobs due to this. Foods worsened symptoms in 60%, with a decrease in symptoms while on low fiber foods and white meats. Lifestyle change worsened symptoms in 66%. A change in the caregiver was not a significant stressor. More than half used Remicade, with one third stating that it was helpful. Eight percent had never used steroids. Alcohol increased symptoms in 40%. Factors that did not cause a significant change were children at any age, pregnancy, menopause, and hormone replacement therapy. Surgery caused half the patients to improve for many years, although one third felt a lowered self-esteem postoperatively. Conclusion Patients with Crohn’s disease should be managed in a more comprehensive manner to provide optimal care. Thus, a team approach that includes a dietician and counselor should be considered as an integral part of this team. This will allow patients to have enhanced skills to cope with changes in their symptoms, whether they are due to the disease itself or the changes in their routine.