PS4:76 The challenge of central nervous system small vessel disease in autoimmunity: a case report

Among neurological involvement of autoimmune diseases, microvasculopathy and small vessel disease remains quite challenging, with an unclear aetiology and heterogeneous clinical manifestations. A 54-year-old male was admitted at the Emergency Department complaining of motor deficit of right hand since the day before. Neurological examination revealed clumsy hand with difficulty in writing, with ataxia and dysdiadochokinesia of the right arm. Magnetic resonance imaging revealed probable central nervous system (CNS) vasculitis, with multiple acute and chronic micro ischaemic lesions without respecting a single arterial territory, in both cerebral and cerebellar hemispheres. Delving into his personal medical records reference should be made to the fact that he has already had thrombotic events in the previous six years, twice deep vein thrombosis and myocardial infarction, recurrent oral ulcers and no suggestion of kidney disease. Laboratory results showed pancytopenia, creatinine: 2,7 mg/dL; BUN: 102 mg/dL; ESR: 77 mm/h, CRP: 2,3 mg/dL, LDL cholesterol: 120 mg/dL, HbA1c: 5,4%, homocysteine: 28,5 µmol/L, haptoglobin: 161 mg/dL. A broader laboratory study was made, including measure of anticardiolipin antibodies – IgG (6842,6 UQ) and IgM (20–30 UQ), anti-beta2-glycoprotein-I antibodies – IgG (22298,7 UQ) and IgM (20–30 UQ) positive lupus anticoagulant test, Anti-DS-DNA antibodies: 55,2 UI/mL, low C3 and direct Coombs test: IgG positive, C3d negative. 24 hour urine sample showed proteinuria of 1859,7 mg/24 hour and an Albumin-Creatinine ratio of 1019,7 mg/g. Transthoracic echocardiogram, Holter monitoring, and echo-Doppler ultrasound of neck vessels did not highlight any abnormality. Kidney biopsy demonstrated mesangial proliferative glomerulonephritis and didn’t show the typical ‘full house’ immunofluorescence of systemic lupus erythematosus (SLE), rather glomerular mesangial widening and hypercellularity and focal glomerular capillary wall thickening with double contours, intraluminal thrombi and endothelial cell swelling. At the moment, the patient presents symptoms that fulfil the current diagnostic criteria for secondary antiphospholipid syndrome (APS) to SLE, due to 9 of SLICC criteria presented. Even so, the difficulty in defining the aetiology of the involvement of the CNS persists, considering the possibility of neurolupus or CNS vasculitis associated with APS. This case illustrates the clinical challenge of distinguishing CNS small vessel disease in the context of autoimmunity.