A rare hereditary disease: Muckle-Wells syndrome

Cryopyrin associated periodic syndrome (CAPS) is a dominantly-inherited autoinflammatory disease, which is included in the group of periodic fever syndromes. It is caused by a defect in the regulation of inflammatory cytokines, particularly interleukin-1β. CAPS encompasses a spectrum of three phenotypes of increasing severity: familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS) and neonatal onset multisystem inflammatory disease. We report the case of a 58-year-old male, who had migratory joint pains, daily urticaria, chills, and episodic conjunctivitis since childhood and hearing loss in his 20s with a family history of similar symptoms. He was diagnosed with MWS after being found to have a <em>R262W</em> gene mutation in <em>NLRP3</em> gene and successfully treated with canakinumab. After his discovery, other 1^st and 2^nd degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.

Pulsed radiofrequency therapy might be not inferior to thermal neurotomy in lumbar facet joint pain: a commentary

The effects of pulsed radiofrequency treatment in low back pain was evaluated in a routine clinical setting and compared with thermal neurotomy of nerve structures of the facet joint. The treatment of 19 patients with lumbar facet joint pain was prospectively evaluated. Follow-ups were recorded at 6 weeks and 6 months after intervention. Patients with ≥50% pain relief following controlled diagnostic local anesthetic block underwent medial branch neurotomy with thermal continuous radiofrequency (CRF, n=16) or pulsed radiofrequency (PRF, n=3). Experiences between the two radiofrequency modes in the treatment of facet joint pain were recorded. In the overall population, a facet joint pain reduction of 23% at 6 weeks, 20% at 6 months and an improvement in various clinical scores was achieved. CRF and PRF appeared to be similarly effective in the treatment of facet joint pain, providing pain relief for at least 6 months. These observations should encourage pain researcher to design meaningful studies to further address this concept.

Systemic lupus erythematosus and extreme thrombocytosis without autosplenectomy

Systemic Lupus Erythematosus (SLE) is an autoimmune disorder characterized by multiorgan system involvement. Hematologic manifestations are common in SLE and include thrombocytopenia in as many as 50% of patients. Thrombocytosis is much less common in SLE, occurring in less than 5% of patients, and is typically reported in association with autosplenectomy. The following case report describes a 35-year-old female patient who presented for evaluation with extreme thrombocytosis of unclear etiology. The patient was diagnosed with reactive thrombocytosis due to active SLE for which treatment with corticosteroids and plaquenil was provided with subsequent decline in platelet counts. This report highlights the importance of considering SLE in the differential for thrombocytosis despite its classic association with thrombocytopenia.

Successful treatment of neuro-Behçet’s disease with infliximab: four years follow-up

Neuro-Behçet’s disease (NBD) is a rare but severe manifestation of Behçet’s disease. Patients with NBD tend to have high morbidity and mortality. Some patients do not respond adequately to conventional therapy (corticosteroids and immunosuppressants). This has led to treatment gaps in the therapy of NBD. There are reports in the literature of patients with Behçet’s disease responding to anti-TNF therapy. We present a case of a male patient with biopsy proven cerebral vasculitis presenting as NBD who has been in remission with near resolution of cerebral magnetic resonance imaging lesions for 4 years following treatment with infliximab and azathioprine.

Atypical femur fractures associated with bisphosphonates: from prodrome to resolution

Atypical fractures related to the prolonged use of bisphosphonates are caused by low energy mechanisms and are characterized by oblique and transverse lines and frequent bilateralism. We present a clinical case of a patient who we believe illustrates, both in clinical and radiological aspects, the new definition of atypical femur fracture related to treatment using bisphosphonates treated conservatively and successfully with discharge and teriparatide 20 mcg/80 mcl s.c./24h. The appearance of painful symptoms in the upper thigh, especially if bilateral, in patients treated with bisphosphonates for long periods of time, makes it necessary to dismiss bone lesions that might otherwise suggest atypical fracture. In those cases where the fracture is incomplete, restoring bone metabolism through the administration of teriparatide 20 mcg/80 mcl s.c./24h could prevent displaced fractures.

A case of autoimmune limbic encephalitis in a patient with Behcet’s disease

Behcet’s disease is well known to have neurological manifestations, most usually as a consequence of focal parenchymal lesions or vascular thrombosis. We report a case of autoimmune limbic encephalitis in a patient with Behcet’s disease, that was highly responsive to immunoglobulins and steroid, which ultimately prevented mortality, and reduced comorbidity. We also review the investigation and management of non-paraneoplastic, or autoimmune limbic encephalitis.

A case of Henoch-Schönlein purpura with cardiopulmonary involvement

Henoch-Shönlein purpura (HSP) commonly affects the kidney, causing hematuria and Immunoglobulin A type nephropathy. Extra-renal involvements are rare but can be life threatening if missed. Cardiac involvement has been described only in a handful of case reports. Although HSP is predominantly a pediatric disease, it should not be overlooked in older patients presenting with typical triad of symptoms. We report a rare case of HSP with both cardiac of pulmonary systems involvement and his clinical progress

Multicentric reticulohistiocytosis: an example of the value of skin biopsy in joint disease

We describe a case of multicentric reticulo-histiocytosis. It is a rare condition but one which causes significant morbidity to skin and joints. There is no consensus on treatment, but here we report a good response to infliximab. We also use the case to emphasise the value of skin biopsy in diagnosing rheumatological conditions.

Lyme carditis mimicking giant cell arteritis

Presenting an interesting case of a patient who complained of myalgias, fatigue, headache, jaw claudication and scalp tenderness. Patient’s physical examination was unremarkable. Laboratory findings showed elevated erythrocyte sedimentation rate and C-reactive protein, bilateral temporal artery biopsy results were negative and first degree atrioventricular block was seen on electrocardiogram. Serology for <em>Borrelia burgdorferi</em> was positive; patient was diagnosed with Lyme carditis and treated with doxycycline. Lyme is a tick-borne, multi-system disease and occasionally its presentation may mimic giant cell arteritis. On follow-up there was complete resolution of symptoms and electrocardiogram findings.

Atrial myxoma in a primigravida presenting as Raynaud’s phenomenon

A 32-year-old primigravida at 8 weeks of gestation presented with gangrene of both great toe for 10 days. Two years back, she had an episode of Raynaud’s phenomenon involving left ring finger diagnosed as primary Raynaud’s phenomenon and was treated with nifedipine following which she improved. In the following months, she had 2-3 similar episodes of Raynaud’s phenomenon in the upper extremity which were less severe. On diagnostic evaluation she was found to have an intra cardiac mass arising from mitral leaflet. We present a case of atrial myxoma initially presenting as an isolated Raynaud’s phenomenon with a long asymptomatic period before the next clinical manifestation which to our knowledge is the first such report.