Central nervous system vasculitis in systemic lupus erythematosus: a case series report in a tertiary referral centre.

Central nervous system (CNS) vasculitis (CNS) in systemic erythematosus lupus (SLE) is a rare and challenging diagnosis. We report four cases of CNS vasculitis that occurred 5 to 16 years after the diagnosis of SLE. Magnetic resonance imaging (MRI) detected different features suggestive of CNS vasculitis: enhancement and thickening of the vascular wall, vascular stenosis, ischemic brain lesions and intracerebral haemorrhage unlikely to correspond to other mimic aetiologies. Three patients received combination therapy with glucocorticoids (GC) and cyclophosphamide (CYC). Intravenous human immunoglobulin (IVIG) was administered when the patient had a past history of serious adverse event to CYC or high infectious risk. All patients showed imagiological improvement, at least partially, 5 to 23 days after starting treatment. We discuss the management of CNS in SLE including the role of magnetic resonance imaging (MRI).

Coexisting primary Sjögren's syndrome and sarcoidosis: coincidence, mutually exclusive conditions or syndrome?

Herein, we describe a 44-year-old female diagnosed with histologically proven coexistence of primary Sjögren's syndrome and sarcoidosis with pulmonary and muscular involvement. The differential diagnosis may be difficult, but this is not an exceptional case, which highlights the need to critically revise the consideration of sarcoidosis as an exclusion for primary Sjögren's syndrome, as established in current classification criteria.

Exuberant calcinosis and acroosteolysis. A diagnostic challenge.

A case of exuberant acroosteolysis and subcutaneous tissue calcinosis in the absence of skin involvement is presented. Different hypotheses are discussed following the clinical unfolding of the case in practice.

[Dermatomyositis-like syndrome in x-linked agammaglobulinemia]. / SÍNDROMA DERMATOMIOSITE-LIKE EM DOENTE COM AGAMAGLOBULINÉMIA LIGADA AO CROMOSSOMA X.

Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a persistent infection by an Echovirus. According to sixteen previously reported cases, this syndrome has a poor prognosis. We report the case of a 27-years old male, with XLA and DLS, successfully treated with 6 cycles of human immunoglobulin and methotrexate. Clinical symptoms improved dramatically with a complete resolution of the musculoskeletal manifestations. Despite this clinical response, prognosis should remain reserved. The evolution of this syndrome remains unpredictable and therapeutic options are limited. To the best of our knowledge, there are only a few reports of similar cases which have survived so many months after the diagnosis.

Septic arthritis caused by Peptostreptococcus asaccharolyticus.

Peptostreptococcus spp are commensal organisms, usually involved in periodontal disease. Peptostreptococcus asaccharolyticus is an anaerobic gram-negative cocci, difficult to isolate due to its slow growth. Septic arthritis by this microorganism is a rare entity, but it can occur by hematogenous dissemination from a distant focus. Colonization and growth are more likely to occur in an already damaged articulation. We report the case of a 57 year-old woman with peripheral spondyloarthritis who developed knee septic arthritis by Peptostreptococcus asaccharolyticus.

CROSS-CULTURAL VALIDATION OF THE PORTUGUESE VERSION OF THE EDUCATIONAL NEEDS ASSESSMENT TOOL (PortENAT).

OBJECTIVES: To undertake a cross-cultural adaptation and validation of the educational needs assessment tool (ENAT) into Portuguese. METHODS: The first phase of this research (cross-cultural adaptation) utilised a well-established translation method comprising five sequential steps: forward-translation, synthesis of translations, back-translation, expert committee and field-testing of the adapted version. The second phase involved collecting data from 123 patients and subjecting them to Rasch analysis for validity testing including cross-cultural invariance. RESULTS: The translation and field-testing phase went smoothly giving rise to minor adjustments in the phrasing of some items. The preliminary analysis of the 39 items, revealed some deviations from the model with the overall item-person interaction fit statistics 2(df) = 56.025 (39), p = 0.038. Significant item-item correlations caused artificial inflation of the internal consistency, therefore violating the model assumption of local independence of items. To correct this, all locally dependent items were then grouped into their respective domains, creating a 7 testlet-scale which demonstrated a good fit to the Rasch model, 2(df) = 2.625 (7), p = 0.917 and internal consistency PSI = 0.975. Analysis of the pooled (Portuguese and the English) data revealed cross-cultural DIF, requiring adjustments in two testlets: 'treatments' and 'support' which ensured cross-cultural equivalence. CONCLUSIONS: This study confirms the Portuguese ENAT is a robust unidimensional tool with which to assess the educational needs of Portuguese people with RA. Cross-cultural adjustments are required only if the data from Portugal and the UK are pooled or compared. The tool is now available for use in clinical practice and research.

Arthropathy of genetic hemochromatosis: a major and distinctive manifestation of the disease.

Genetic hemochromatosis is not a rare disease and represents a frequently underestimated cause of arthropathy. Joint involvement is one of the most frequent manifestations of the disease and presents typical clinical and radiological features that strongly suggest the diagnosis. Joint complaints are often the first clinical manifestation of GH. Their identification may be crucial to establish the diagnosis in the pre-cirrhotic phase and to institute appropriate therapy to prevent organ damage and associated mortality. Recent identification of the genetic defect responsible for the disease is leading to new insights into the pathogenesis of GH and the associated arthropathy.

Portuguese recommendations for the diagnosis and management of gout.

OBJECTIVE: To develop Portuguese evidence-based recommendations for the Diagnosis and Management of Gout. METHODS: As part of the 3e Initiative (Evidence, Expertise and Exchange), a panel of 78 international rheumatologists developed 10 relevant clinical questions which were investigated with systematic literature reviews. MEDLINE, EMBASE, Cochrane CENTRAL and abstracts from 2010-2011 EULAR and ACR meetings were searched. Based on the evidence found in the published literature, rheumatologists from 14 countries developed national recommendations that were merged and voted into multinational recommendations. We present the Portuguese recommendations for the Diagnosis and Management of Gout which were formulated and voted by Delphi method in April 2012, in Lisbon. The level of agreement and potential impact in clinical practice was also assessed. RESULTS: Twelve national recommendations were elaborated from 10 international and 2 national questions. These recommendations addressed the diagnosis of gout; the treatment of acute flares and urate-lowering therapy; monitoring of gout and comorbidity screening; the influence of comorbidities in drug choice; lifestyle; flare prophylaxis; management of tophi and asymptomatic hyperuricaemia; the role of urine alkalinization; and the burden of gout. The level of agreement with the recommendations ranged from 6.8 to 9.0 (mean 7.7) on a 1-10 point visual analogue scale, in which 10 stands for full agreement. CONCLUSION: The 12 Portuguese recommendations for the Diagnosis and Management of Gout were formulated according to the best evidence and endorsed by a panel of 42 rheumatologists, enhancing their validity and practical use in daily clinical practice.

[Septic arthritis and gout--a case report]. / Artrite séptica e gota--a propósito de um caso clínico.

The authors describe a 54 year-old male patient, admitted after presenting in the emergency room with acute oligoarthritis affecting the shoulders and right tibiotarsal and sternoclavicular joints, with a week's duration. He was non-febrile and related a purulent discharge from the stump of a traumatic amputation of the left thumb, starting a few days prior to the presenting complaints. There was a previous history of gouty arthritis and moderate alcoholism. Lab work revealed an elevation of the acute phase markers, with marked neutrophilia. Upon admittance, the patient underwent arthrocentesis, revealing a purulent discharge with sodium monourate crystals, which cultured positively for meticillin-sensitive Staphylococcus aureus. Besides antibiotherapy, on Day 5 the patient presented with a cervical abscess with extension to mediastinum; the abscess was drained by a cardiothoracic surgeon, and the right sternoclavicular and first costochondral articulations were found to be destroyed. The authors note that, although it is a rare occurrence septic arthritis can coexist with gout, while discussing the possible mecanisms of this association, as well as particular details of the clinical case presented.

[Relapsing polychondritis, interstitial granulomatous dermatitis and antiphospholipid syndrome: an unusual clinical association]. / Policondrite recidivante, dermatite intersticial granulomatosa e síndrome antifosfolípido: uma associação clínica invulgar.

The authors describe the case of a 49 year-old male patient with a 3-year history of antiphospholipid syndrome, admitted after presenting in the emergency room with erythematous nodular skin lesions, affecting the face and neck, with a week's duration. Local biopsies were suggestive of interstitial granulomatous dermatitis. The patient described lesions compatible with bilateral auricular chondritis, two weeks prior to the appearance of the nodules, which resolved spontaneously after 3 days. There was a previous episode of nasal chondritis, two years previously, and another episode starting at the 7th day of hospitalization. These findings, taken together with a diagnosis of seronegative polyarthritis established 5 years before the current events, lead to a diagnosis of relapsing polychondritis.

[Tracheal stenosis by extrinsic compression: a case of anterior cervical hypertrophic osteophytosis]. / Estenose traqueal por compressão extrínseca: um caso de osteofitose cervical anterior hipertrófica.

Anterior Cervical Hypertrophic Osteophytosis (ACHO) is a clinical entity caused by degenerative changes of the cervical spine. ACHO may also be found in Diffuse Idiopathic Skeletal Hyperostosis (DISH)1-3, Ankylosing Spondylitis and Post-traumatic Osteophytogenesis. In a minority of cases it may lead to oesophagical manifestations and less commonly, to respiratory complaints. The authors report the case of a 75-year-old male with a personal history of chronic tophaceous gout and chronic obstructive lung disease. The patient presented with a history of progressive worsening of dyspnoea and dysphagia (for solid food) as well as foreign body sensation at the cervical level. On general examination, the patient presented with slightly diminished breath sounds and an increased expiratory time. On rheumatologic examination, the patient had moderate limitation of all cervical movements, crepitating knees and multiple gout tophi in both hands. Cervical plain radiographs showed large anterior osteophytes at the level of C4 and C5. Flexible videobronchoscopy was also performed, showing an angle of distortion in the upper third of the tracheal wall, caused by extrinsic compression. These changes were confirmed by cervical CT scan which also documented an anterior sliding of the oesophagus due to large anterior cervical osteophytes. Videofluoroscopic swallow study revealed the presence of paradoxal contraction of the cricopharyngeal muscle. The patient was treated with a non-steroidal anti-inflammatory drug (NSAID) and a skeletal muscle relaxant. Dysphagia improved but not the respiratory symptoms. Although there was indication for surgical removal of the hypertrophic osteophytes, the patient refused surgery and continues to be followed-up regularly at our outpatient clinic.

[Livedoid vasculitis in a patient with antiphospholipid syndrome]. / Vasculite livedóide em doente com síndrome antifosfolípido.

The authors present a clinical case of a 30 year old male patient admitted to the hospital for recurrent cyanosis and feet pain lasting for one year. In addition he presented bilateral purpuric lesions in the lateral maleolar region, one of which with ulceration. The finding of anticardiolipin antibodies associated with intraluminal thrombosis in the dermal vessels, allowed to conclude for Antiphospholipid syndrome. The cutaneous changes identified are named livedoid vasculitis.

[A cutaneous thickening case...]. / A propósito de um caso de espessamento cutâneo...

The authors present a clinical case of a 79 years old female patient, with a progressive cutaneous thickening of the face, trunk and limbs, lasting for 6 years. She also presented exertional dyspnea and intermittent solid dysphagia. The laboratory study identified IgG KAPA monoclonal protein and antinuclear antibodies with a speckled pattern. The nailfold capillaroscopy was normal. A detailed physical examination together with cutaneous histopathology led to the diagnosis of Scleromyxedema, a rare cutaneous scleroderma like disease. The differential diagnosis of cutaneous sclerosis is discussed.

[Abdominal pain due to lupus enteritis: a rare cause for a frequent complaint]. / Dor abdominal por enterite lúpica: causa rara de uma queixa frequente.

Abdominal pain is a frequent complaint in patients with Systemic Lupus Erythematosus (SLE). The authors describe the case of a 33-year-old SLE female patient, followed in their rheumatology clinic, who presented with acute and diffuse abdominal pain, vomiting and diffuse rebound tenderness at abdominal examination. Abdominal ultrasound and CT scans showed small bowel wall thickening, with target sign on the CT scan, which suggested the diagnosis of Lupus Enteritis. The patient was treated with high-dose corticosteroids, with rapid resolution of all abdominal abnormalities. Lupus Enteritis is a rare complication of SLE, due to intestinal small-vessel vasculitis. It is a very serious complication of SLE, but the prognosis can be greatly improved with early diagnosis and adequate treatment, as in the case presented here.

[Arthralgia, bone pain, positive antinuclear antibodies and thrombocytopenia...diagnosis: Niemann-Pick disease]. / Artralgias, dores ósseas, anticorpos anti-nucleares positivos e trombocitopénia...Diagnóstico: doença de Niemann-Pick.

The differential diagnosis of rheumatic diseases is sometimes very complex given the lack of specificity of some clinical manifestations. A careful physical examination with the aid of laboratory and radiographic findings can lead us to some rare conditions, reminding that they should never be forgotten in the differential diagnosis. The authors present a case report of a woman referred to the rheumatology department with joint and bone pain. Physical examination and laboratory findings lead us to the diagnosis of type B Niemann-Pick disease. Some considerations about the diagnostic challenge of this rare clinical condition are made.

[Fever of unknown origin in a patient with dermatomyositis]. / Síndrome febril indeterminado em doente com dermatomiosite.

The authors present a clinical case of a male, 54 year-old with the diagnosis of Dermatomyositis has 2 months ago. The patient, after a partial response to immunosuppressive therapy, presents with Fever of unknown origin. After a deep clinical evaluation it was established the diagnosis of resistant pulmonary tuberculosis. The differential diagnosis of fever of unknown origin in patients with dermatomyositis is discussed.

Rash, fever and proteinuria after amoxicillin in a SLE patient.

We report a case of severe type IV hypersensitivity reaction to amoxicillin, which occurred in a person with a 12-year history of SLE. The present case illustrates the wide differential diagnosis in a SLE patient who presents with an allergic drug reaction. The attribution of the presenting symptoms to the underlying SLE and/or to the drugs used to treat SLE and coexisting conditions is a major challenge.

[Familiar chondrocalcinosis: a story for two brothers]. / Condrocalcinose familiar: uma história para dois irmãos.

Calcium pyrophosphate dihydrate crystal deposition is frequently an asymptomatic disease. However it may cause severe acute attacks of inflammatory arthritis as well as chronic arthropathies. The authors present two case reports of two brothers with chondrocalcinosis and an unusual presentation that mimics rheumatoid arthritis. Special considerations are made about the differences between the familiar and idiopathic forms.