The Spectrum of Still's Disease: A Comparative Analysis of Phenotypic Forms in a Cohort of 238 Patients.

Still's disease (SD) is a heterogeneous autoinflammatory disorder for which several phenotypes have been described. We conducted a retrospective study to re-evaluate the dichotomous view of the disease, to compare the juvenile and adult forms, and to look for prognostic factors. We collected data from ten French centers, seeking patients with a diagnosis of adult-onset SD (AOSD) or systemic juvenile idiopathic arthritis (sJIA). We identified 238 patients, 152 (64%) of whom had AOSD while 86 (36%) had sJIA. The median age at SD onset was 26.6 years. In patients with identifiable patterns, the course of SD was systemic in 159 patients (74%), chronic in 55 (26%). Sore throat and myalgia were more frequent in patients with AOSD. Abnormal liver tests, serum ferritin and C-reactive protein levels were higher in AOSD group. Fever and skin rash were predictive of complete remission or recovery and high lactate dehydrogenase level was a poor prognosis factor. Symptoms such as splenomegaly, skin rash, high polymorphonuclear neutrophils count and macrophage activation syndrome were predictive of a systemic phenotype. Overall, there were no major differences between sJIA and AOSD. Our results are consistent with the "biphasic" model of an autoinflammatory disease that can progress to chronic arthritis if not treated early.

Detection and Prediction of Macrophage Activation Syndrome in Still's Disease.

Distinguishing between macrophage activation syndrome (MAS) and a simple flare of Still's disease (SD) may be challenging. We sought to clarify the clinical features and outcome of MAS in SD and to explore predictive factors of MAS development. Demographic and clinical data, treatments, and outcomes were recorded in a cohort of 206 SD patients. SD patients with and without MAS were compared. To explore predictive factors for the development of MAS, patients were compared at the time of SD diagnosis. Twenty (9.7%) patients experienced MAS, which was inaugural in 12 cases. Patients with MAS were more likely to have hepatomegaly (OR, 3.71; 95% CI, 1.14-11.2; p = 0.03) and neurological symptoms (OR, 4.43; 95% CI, 1.08-15.3; p = 0.04) than patients without MAS. Cytopenias, abnormal liver tests, and coagulation disorders were significantly more frequent in patients with MAS; lactate dehydrogenase and serum ferritin levels were significantly higher. An optimized threshold of 3500 µg/L for serum ferritin yielded a sensitivity (Se) of 85% and a negative predictive value (NPV) of 97% for identifying patients with/without MAS. Survival analysis showed that a high ferritin level at the time of SD diagnosis was predictive of MAS development (p < 0.001). Specific factors, including neurological symptoms, cytopenias, elevated LDH, and coagulopathy, may contribute to the early detection of MAS. Extreme hyperferritinemia at the onset of SD is a prognostic factor for the development of MAS.

First case of Abiotophia defectiva infectious endocarditis treated with a combination of amoxicillin and daptomycin.

Abiotophia defectiva (A. defectiva) infectious endocarditis (IE) is a serious disease that usually requires lengthy treatment with a combination of amoxicillin and gentamicin. Since severe nephrotoxicity can be associated with prolonged administration of gentamicin, the alternative use of daptomycin in combination with amoxicillin can be considered. We present the case of a 51-year-old man that presented an A. defectiva endocarditis on an aortic bicuspidy. Diagnosis of cirrhosis was made simultaneously, and therefore gentamicin was counter-indicated. A combination of amoxicillin 12 g per day and daptomycin 700 mg (10 mg/kg) was administrated, with resolution of clinical, biological and echographic abnormalities, and no relapse after 1 year. In our experience, amoxicillin with daptomycin could be an alternative in case of A. defectiva IE with counter-indication to aminoglycosides.

Acute ophthalmoparesis associated with human parvovirus B19 infection.

PURPOSE: Parvovirus B19 infection (PVB19) has been linked with a broad spectrum of clinical syndromes. In addition to erythema infectiosum and asymptomatic infection, other less common manifestations include transient aplastic crisis in patients with hemoglobinopathies, pure red cell aplasia and pancytopenia in immunocompromised persons, nonimmune hydrops fetalis, chronic arthritis, myocarditis, and hepatitis. METHODS: Only 19% of patients had peripheral nervous system damage, mainly including brachial plexitis and carpal tunnel syndrome. Two cases of cranial nerves palsies have been described in children in the literature, including one case of peripheral facial nerve palsy and one case of velopalatine hemiparalysis. We report the first case of acute ophthalmoparesis associated with PVB19 infection. RESULTS: We present a 40-year-old man with PVB19 with acute sixth cranial nerve palsy, diagnosed on the basis of serology and polymerase chain reaction carried out both on serum and cerebrospinal fluid. CONCLUSIONS: Clinicians should be aware of this possible clinical presentation.

Coexisting relapsing polychondritis and sarcoidosis: an unusual association.

Relapsing polychondritis is an episodic and progressive systemic inflammatory disease characterized by auricular chondritis, polyarthritis, nasal and respiratory tract chondritis. About 30% of the patients have additional autoimmune and or hematological diseases, most frequently systemic vasculitis, rheumatoid arthritis, myelodysplastic syndromes or systemic lupus erythematosus. So far, only one case of coexisting relapsing polychondritis and sarcoidosis in a patient with AIDS has been reported. We describe here a case of sarcoidosis and relapsing polychondritis in an immunocompetent patient. Physicians should be aware of this possible association.

A strange Evans syndrome: a case report.

Hepatic angiosarcoma is a rare malignant vascular tumor, which accounts for up to 2% of all primary liver tumors. The most frequent symptoms on presentation are weight loss, weakness and abdominal pain. Diagnosis of diffuse hepatic angiosarcoma can be challenging. We report an original case of diffuse liver angiosarcoma revealed by haematological abnormalities initially diagnosed as an Evans syndrome. Anaemia and thrombocytopenia are rarely the first manifestations of this pathology. They are explained by combination of several mechanisms. Diagnosis of diffuse liver angiosarcoma can be extremely difficult and physicians should be aware of these presentation.

Superficial siderosis revealed by isolated cognitive impairment.

Superficial siderosis (SS) is a rare disorder due to chronic bleeding into the subarachnoid or intraventricular space. The most common clinical presentation is progressive ataxia and hearing loss. The authors report two patients who presented with dementia as the primary manifestation of SS. The cognitive impairment marked by cortical frontotemporoparietal dysfunction was consistent with the pattern of signal abnormalities seen on brain magnetic resonance imaging (MRI). Diagnosis of SS must be considered when T2*-weighted MRI shows typical signal hypointensity outlining the brain and spinal cord surfaces. Performing such MRI sequences appears to be of particular interest in the context of dementia etiological diagnosis.

Uveitis associated with multiple sclerosis.

Our study aimed to determine the frequency of uveitis among MS patients through the Lyon MS Database and compare the clinical spectrum and time course of MS in patients with or without uveitis. Twenty-eight patients with uveitis were detected. The prevalence of uveitis in our population was 0.65% (28/4,300). Uveitis preceded onset of MS in 46% of the patients; it occurred simultaneously or after MS, in 18% and 36% of the cases, respectively. The topography and timing of uveitis were not associated with any significant difference in MS course and prognosis. There was no difference in the course and prognosis in patients with or without uveitis.

Coexisting pseudoxanthoma elasticum and lupus erythematosus: report of two cases.

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder affecting the elastic structures in the body, manifesting with cutaneous, ophthalmologic and cardiovascular findings. The association of PXE and systemic disease is rare, as only six cases have been reported in the literature. We describe herein two cases of coexisting PXE and cutaneous lupus and discuss a possible association. Although a fortuitous association cannot be excluded, the calculated prevalence of the association in our area was much less than in our observation. Given the ocular and vascular complications of PXE, clinicians who treat patients with lupus should be aware of this possible association.