Cyclophosphamide and methotrexate in Susac's Syndrome: a successful sequential therapy in a case with involvement of the cerebellum.

Susac's Syndrome (SS) is a rare disease with unknown aetiology due to a microangiopathy affecting the precapillary arterioles of the brain, retina, cochlea and semicircular canals. Neurological manifestations, visual dysfunction and hearing loss represent the classical clinical triad of SS. Diagnosis is confirmed by laboratory investigations, neuroimaging findings, fluoroangiography and inner-ear studies. An early treatment with steroids and immunosuppressors limits the sequelae of disease. We report a case of SS in which the clinical triad occurred in a very short period of time. Brain MRI showed the involvement of cerebellum, this representing a rare neuroradiological finding in SS. A full remission of disease was obtained by using corticosteroids and cyclophosphamide in the acute-subacute phase and methotrexate as maintenance therapy. This latter has never been used before in SS.

3-T magnetic resonance angiography in primary angiitis of the central nervous system.

OBJECTIVE: Primary angiitis of the central nervous system (PACNS) is a rare disease characterized by an inflammatory process of intracranial vessels. Magnetic resonance angiography (MRA) (3 T) offers increased signal-to-noise ratio and background suppression, leading to better depiction of the intracranial vessels. The aim of our work was to compare the sensitivity of 3-T MRA to that of 1.5-T MRA in the diagnosis of PACNS. METHODS: Eight patients with PACNS and signs of angiitis at digital subtraction angiography (DSA) underwent MRA at 1.5 and 3 T. Magnetic resonance angiograms obtained with time-of-flight (TOF) technique were evaluated for the presence of stenosis with respect to DSA. RESULTS: In PACNS patients, DSA identified 827 intracranial stenoses. Sensitivity for vessel stenosis of 3-T TOF MRA was 47% and 14% for 1.5-T TOF. CONCLUSIONS: Time-of-flight MRA at 3 T improved the sensitivity of MRA in the noninvasive preliminary evaluation of patients with PACNS.

Long-term efficacy and improvement of health-related quality of life in patients with Takayasu's arteritis treated with infliximab.

OBJECTIVES: To explore the efficacy in the long-term and the impact on Health Related Quality of Life (HRQOL) of infliximab in patients suffering from Takayasu's arteritis (TA). METHODS: Clinical data were retrospectively collected in 15 patients with TA. Evaluation of Medical Outcomes Study Short Form 36 (SF-36) questionnaires was made at baseline and at the last follow-up in 10 patients continuing infliximab at the last follow-up. RESULTS: Follow-up after initiation of infliximab was 71±44 months (range 10-162). Remission at the last follow-up was noted in 11/15 (73.3%). Significant reduction in BVAS score was noted at the last follow-up [from 4.0 (1-16) to 3.0 (0-9), p=0.003]. Significant steroid dose reduction was recorded [from 10 mg/day (0-50) to 2.5 mg/day (0-15), p=0.005)]. Steroid suspension occurred in 5/11 responder patients. Inflammatory markers were normalised in about two thirds of the patients. Radiological disease activity was assessed in 13/15 during infliximab therapy, with evidence of improvement in 2/13, stable disease activity in 9/13, and worsening in 2/13. No relevant side effects or severe infections were recorded during the whole follow-up under infliximab. One patient stopped infliximab at the third infusion for acute reaction. HRQOL in patients with TA was impaired, with major involvement of physical domains [(body pain (BP) and global health (GH)]. Infliximab significantly improved HRQOL, in particular BP (40.0±32.3 vs. 67.2±27.6, p=0.035), GH (31.2±21.5 vs. 54.9±21.1, p=0.007) and Vitality (VT) (47.0±28.7 vs. 67.0±20.3, p=0.01) domains. CONCLUSIONS: Infliximab determined a sustained clinical improvement in the long-term in TA, with significant benefits on HRQOL.

Primary angiitis of the central nervous system: report of eight cases from a single Italian center.

The primary angiitis of the central nervous system (PACNS) is a rare and potentially fatal form of vasculitis with unknown etiology. Headache and encephalopathy are the most frequent symptoms. Neuroimaging plays an important role in the diagnosis, but the pattern of abnormal findings is not specific. In some cases brain biopsy is mandatory. PACNS is often described as a diagnostic and therapeutic challenge for clinicians considering the lack of univocal diagnostic criteria and paucity of studies evaluating the long-term outcome. This brief work reports how we managed eight patients with PACNS from diagnosis to long-term follow up treatment. Headache and focal acute neurological deficits were the most common symptoms. Magnetic resonance imaging (MRI) was abnormal in all patients with different patterns of infarctions or intraparenchymal/subarachnoid hemorrhages or their combination. Cerebral angiography demonstrated pathological findings compatible with vasculitis in all cases. Other causes of encephalopathy were ruled out. Patients with severe clinical and neuroradiological findings were treated with steroids and immunosuppressive therapy using cyclophosphamide/methotrexate. Patients with less aggressive PACNS, were treated with steroids only. In one case with multiple relapses infliximab was used after first-line immunosuppressive therapy failure. PACNS suspicion is based on the combination of demographic/clinical and MRI findings and the exclusion of other causes of multifocal encephalopathy. A positive angiography has a diagnostic value in an adequate clinical field. A strict collaboration of neurologists, neuroradiologists, and immunoreumatologists is essential in the management of PACNS both in the diagnostic and therapeutic phases.

[Cardiomyopathy and hypereosinophilia: a post-partum case]. / Cardiomiopatia e ipereosinofilia: un caso post-partum.

Cardiomiopathy and hypereosinophilia: a post-partum case. A case of cardiomyopathy and hyperoesinophilia observed soon after delivery is reported. A wide spectrum of different clinical entities characterized by peripheral hyperoesinophilia, tissue infiltration and eosinophil-mediated organ damage is referred to as hypereosinophilic syndrome and their distinction is often challenging. Cardiac involvement is frequent in such these syndromes and worsens prognosis. A prompt recognition and therapy of the underlying disease and of its peripheral expression, as in the following case, may improve patients' outcome.