ABSTRACT
INTRODUCTION: VEXAS (Vacuoles, E1 Enzyme, X-linked, autoinflammatory, Somatic) syndrome is a recently described severe adult-onset autoinflammatory disorder mediated by X-linked gene UBA1 somatic mutations, responsible of recurrent fever, skin involvement, chondritis, macrocytic anemia and inflammatory syndrome. Neurological manifestations are rarely described, and predominantly involve peripheral nervous system (PNS) impairment. RESULTS: We report the first central nervous system (CNS) vasculitis in VEXAS syndrome, characterized by headache, cognitive dysfunction and focal signs (cerebellar ataxia). Magnetic resonance imaging (MRI) revealed multifocal white-matter lesions corresponding to recent ischemic strokes, combined with cortical hemorrhagic lesions and gadolinium enhancement of the distal wall vessels. Treatment with methylprednisone, ruxolitinib and tocilizumab led to clinical improvement and a decrease of the inflammatory syndrome. The patient died few months after due to infectious complications. CONCLUSION: CNS vasculitis, occurring as a manifestation of the systemic auto-inflammatory state of VEXAS syndrome, might be a rare but severe complication. We suggest that it be added to the list of inflammatory vasculopathies. More prospective studies are needed to optimize the treatment.
Subject(s)
Vasculitis, Central Nervous System , Humans , Vasculitis, Central Nervous System/drug therapy , Male , Middle Aged , Magnetic Resonance Imaging , Fatal Outcome , Adult , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/complications , Ubiquitin-Activating EnzymesABSTRACT
The occurrence of cerebral vasculitis in individuals with neurosarcoidosis (NS) is considered to be rare. Although the number of relevant publications has increased in recent years, evidence is mostly limited to case reports. To obtain a better understanding of this rare and severe manifestation of disease, we carried out a scoping review on cerebral vasculitis in patients diagnosed with NS. The results of the review indicate that the diagnosis of cerebral vasculitis in patients with NS is made especially in patients with systemic sarcoidosis. However, recurrent strokes in patients with NS remains the main indicator of cerebral vasculitis. A tissue biopsy is considered the gold standard to confirm the diagnosis despite occasional false-negative results. Glucocorticoids and steroid-sparing agents are the most successful current treatments. Favorable outcomes were observed with strategies targeting TNFα and B cells. The goal of this review is to summarize the current literature and treatment options for cerebral vasculitis in patients with NS.
Subject(s)
Central Nervous System Diseases , Sarcoidosis , Vasculitis, Central Nervous System , Humans , Sarcoidosis/diagnosis , Sarcoidosis/complications , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/etiology , Vasculitis, Central Nervous System/drug therapy , Central Nervous System Diseases/diagnosis , Central Nervous System Diseases/etiology , Glucocorticoids/therapeutic useABSTRACT
A 48-year-old woman was referred with an 18-year history of focal-onset seizures. She also reported years-long slowly progressive right-sided weakness that was corroborated on examination. Repeated brain MRIs over 15 years showed multifocal left hemispheric T2 fluid-attenuated inversion recovery-hyperintense lesions with patchy enhancement and microhemorrhages, no diffusion restriction, and a left cerebellar infarct (Figure 1, A-F). Only 2 nonspecific white matter lesions were seen contralaterally, indicating largely unihemispheric disease. Differential diagnosis included unilateral primary angiitis of the CNS (PACNS), Rasmussen encephalitis, and myelin oligodendrocyte glycoprotein antibody-associated disease.1 Serum and CSF testing for autoimmune, infectious, and malignant etiologies and whole-body fluorodeoxyglucose-PET, whole-exome genetic sequencing, and MR vessel-wall imaging were nondiagnostic. Brain biopsy revealed vasculitis (Figure 2, A-F), and the patient was diagnosed with unilateral PACNS. Treatment with mycophenolate mofetil has been initiated. Unilateral PACNS is a rare unihemispheric disease characterized by an indolent course and seizures, recognition of which is critical to accurate diagnosis.1,2.
Subject(s)
Encephalitis , Vasculitis, Central Nervous System , Female , Humans , Middle Aged , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapy , Magnetic Resonance Imaging , Encephalitis/complications , Seizures/complicationsABSTRACT
Diseases involving the clivus are highly variable, and the incidence of each disease is rare. Primary central nervous system vasculitis (PACNS) is a rare disease with very heterogeneous clinical manifestations, its diagnosis is often challenging, and histopathology is the gold standard. We report a patient with PACNS of the clivus, with a 1-month history of headache and diplopia, who was misdiagnosed as having a tumor of the clivus during prior treatment, due to computed tomography findings of clivus occupation and bone destruction. Endoscopic resection of the nasal clivus lesions was performed. Pathological examination revealed a small abscess with hemorrhage, necrosis, extensive infiltration of lymphocytes and plasma cells, and granulation tissue scar formation. After histopathological examination, the diagnosis was confirmed, and oral glucocorticoid and cyclophosphamide were commenced. This study is the first to report a tumor-like PACNS, that occurs in the clivus, thereby enriching our understanding of PACNS.
Subject(s)
Neoplasms , Vasculitis, Central Nervous System , Humans , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapy , Vasculitis, Central Nervous System/surgery , Glucocorticoids/therapeutic use , Cyclophosphamide/therapeutic use , Neoplasms/drug therapyABSTRACT
INTRODUCTION: Severe and less common neurological manifestations of SARS-CoV-2 infection include acute ischemic stroke, intracerebral hemorrhage, central venous sinus thrombosis, and vasculitis. In this report, we present a case of a 42-year-old man with acute ischemic stroke due to SARS-CoV-2 infection-associated central nervous system vasculitis that improved with steroid therapy. CASE REPORT: A 42-year-old man with SARS-CoV-2 infection presented with non-fluent aphasia and right-sided hemiparesis. Computed tomography angiography revealed an occlusion of the proximal left middle cerebral artery (MCA), with acute infarcts in the left posterior parietal, lentiform nucleus, and cortical frontal cortex on magnetic resonance imaging (MRI). Patient developed pulmonary emboli and was discharged on apixaban and atorvastatin. Four weeks later, the patient presented with recurring symptoms and was found to have worsening left MCA stenosis. MRI and MR angiography revealed a penumbra within the left MCA territory and pruning of the distal branches with severe stenosis. Laboratory workup for autoimmune causes of vasculitis was unrevealing. High-dose intravenous steroid treatment was initiated. Subsequent MRI and MR angiography revealed improved flow in the left cerebral vasculature and no novel ischemic infarcts. CONCLUSION: Central nervous system vasculitis is a rare manifestation of SARS-CoV-2 infection. This case suggests that high-dose intravenous steroids may have a therapeutic role in this patient population. Steroid use, in combination with vasopressor support to augment cerebral blood flow, may prevent further stroke burden.
Subject(s)
COVID-19 , Ischemic Stroke , Vasculitis, Central Nervous System , Male , Humans , Adult , Constriction, Pathologic , COVID-19/complications , SARS-CoV-2 , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapy , Infarction , Steroids/therapeutic useABSTRACT
A 23-year-old female patient with primary vasculitis of the central nervous system simulating a brain tumor is described. The clinical picture was represented by migraine-like headaches, ataxia, transient numbness of the right leg, the lips, double vision, a slight decrease of cognitive functions. MRI of the brain revealed a tumor-like focus in the cerebellum, intensively accumulating contrast, containing micro-hemorrhages (SWI mode). Small single ischemic foci in the brain hemispheres and brain stem were also found. MR angiography (3T) did not found any pathology. Examination of the cerebrospinal fluid revealed a small cytosis (mainly T-lymphocytes) and a slight increase in protein. The results of the analysis of cerebrospinal fluid for syphilis, tuberculosis and the herpetic group of viruses were negative, type 1 oligoclonal synthesis was found. Blood tests for toxoplasmosis, antibodies to aquaporin, anti-neutrophil antibodies, markers of systemic inflammation were within normal limits. Different diagnoses were assumed: demyelinating disease, encephalitis, multiple encephalomyelitis, lymphoma. The diagnosis was established only by a brain biopsy - lymphocytic vasculitis was revealed. According to the immunohistochemical study, T-helpers predominated in the infiltrates. After pulse therapy with Metylprednisolon (1000 mg intravenously drip â. 5), the patient's condition almost returned to normal. It was recommended to take prednisolone per os (starting dose 60 mg) for 7 months.
Subject(s)
Central Nervous System , Vasculitis, Central Nervous System , Female , Humans , Young Adult , Antibodies , Ataxia , Brain/diagnostic imaging , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapyABSTRACT
Primary intestinal lymphangiectasia (Waldmann's disease) is a rare exudative enteropathy without precisely assessed infectious risk. We report the case of a 49-year-old male patient with meningitis and cerebral vasculitis due to Cryptococcus neoformans complicating Waldmann's disease diagnosed 12 years ago. The treatment combined liposomal amphotericin B, 3 mg/kg daily plus flucytosine 25 mg/kg/6 h, both intravenously during 15 days, then fluconazole 800 mg daily during 8 weeks, and finally 200 mg daily indefinitely. Dexamethasone 0.4 mg/kg daily during the first week was gradually decreased over 2 months. The outcome was good, and the patient is still followed 3 years later without any recurrence.
Subject(s)
Cryptococcosis , Cryptococcus neoformans , Meningitis, Cryptococcal , Vasculitis, Central Nervous System , Male , Humans , Middle Aged , Meningitis, Cryptococcal/complications , Meningitis, Cryptococcal/diagnosis , Meningitis, Cryptococcal/drug therapy , Cryptococcosis/complications , Cryptococcosis/diagnosis , Cryptococcosis/drug therapy , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/drug therapyABSTRACT
OBJECTIVE: Cerebral vasculitis (CV) is a severe complication of pneumococcal meningitis (PM); whether dexamethasone use can reduce its occurrence remains to be determined. METHODS: This is a retrospective observational bicentric study analyzing all adults with proven PM hospitalized between January 2002 and December 2020 in two tertiary hospitals. Extrapolating from a standardized definition of primary angiitis of the central nervous system, we defined CV as worsened neurological symptoms associated with compatible imaging. All images were analyzed by a radiologist, and two neurologists reviewed all inconclusive cases of suspected CV for adjudication. Factors associated with CV were analyzed, including dexamethasone use. A subgroup analysis was limited to patients with a lumbar puncture at PM diagnosis. RESULTS: Among 168 patients with PM, 49 (29.2%) had CV, occurring after a median of 8 days (IQR 5-13) of PM diagnosis. In multivariate analysis (N = 151), initial CRP was associated with CV (OR 1.28 per 50-unit increase, p = 0.003), which was marginally linked with delayed hospital admission more than 48 hours after first symptoms (OR 2.39, p = 0.06) and prior NSAID intake (OR 2.94, p = 0.05). Dexamethasone administration did not impact CV occurrence. In 133 patients having undergone lumbar puncture, CSF protein level > 4.4 g/L (OR 4.50, p = 0.006) was associated with CV. CONCLUSIONS: In our cohort, CV was a frequent and severe complication of PM, often occurring in association with unduly delayed medical care, high CRP at admission, and high levels of protein in CSF.
Subject(s)
Meningitis, Pneumococcal , Vasculitis, Central Nervous System , Adult , Humans , Cohort Studies , Dexamethasone/therapeutic use , Meningitis, Pneumococcal/complications , Meningitis, Pneumococcal/drug therapy , Meningitis, Pneumococcal/epidemiology , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/drug therapyABSTRACT
OBJECTIVES: To define the frequency and characteristics of patients with unilateral relapsing involvement in a cohort of patients with adult primary CNS vasculitis (PCNSV). METHODS: We retrospectively studied a cohort of 216 patients with PCNSV seen at the Mayo Clinic, Rochester, MN from 1983 to 2022. Twenty-five patients (19.8%) had at least 2 flares. Three of them (1.4%) had unilateral relapsing vasculitis. We described these 3 patients and compared them with the entire cohort of 216 patients. RESULTS: All 3 patients had angiography-negative and biopsy-positive PCNSV with granulomatous-necrotizing and lymphocytic vasculitides and amyloid beta-related angiitis. The main manifestation at diagnosis and during flares was seizures. Unilateral lesions with gadolinium enhancement were the main MRI finding. Spinal fluid examination at diagnosis was normal in 2 patients. All had multiple flares (from 4 to 10) and were treated with long-term high-dose prednisone and numerous traditional immunodepressive drugs, and one received rituximab for steroid resistance. All 3 patients had slight disability with mild cognitive impairment at last follow-up. DISCUSSION: Unilateral relapsing involvement represents a rare subset of PCNSV with peculiar characteristics and can be observed in all neuropathologic patterns.
Subject(s)
Amyloid beta-Peptides , Vasculitis, Central Nervous System , Adult , Humans , Retrospective Studies , Contrast Media , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/drug therapy , Vasculitis, Central Nervous System/pathology , GadoliniumABSTRACT
Primary angiitis of the central nervous system (PACNS) refers to a rare form of vasculitis of unknown cause, with a challenging diagnostic work-up. We report the case of a 57-year-old patient who presented with transient episodes of headache and global aphasia. Cerebrospinal fluid (CSF) examination revealed lymphocytic pleocytosis with moderate elevated protein and normal glucose. CSF and serum tests for infections and autoimmune/paraneoplastic antibodies were negative, except CSF polymerase chain reaction testing that detected Epstein-Barr virus (EBV). Magnetic resonance imaging of the brain with intravenous gadolinium showed meningeal enhancement and pachymeningitis. Due to continuous relapsing episodes of aphasia, a leptomeningeal and brain tissue biopsy was performed and revealed lesions of granulomatous necrotising vasculitis of medium-sized leptomeningeal and intracranial vessels, as well as negative in situ hybridism for EBV. A diagnosis of primary granulomatous necrotising angiitis of the central nervous system was made, and the patient was treated with intravenous methylprednisolone and oral cyclophosphamide, showing excellent response to treatment. Diversity in clinical and laboratory features makes it difficult for PACNS to be distinguished by other systemic vasculitides. Laboratory tests and neuroimaging can provide guidance in evaluation of the patients and exclude other possible causes, but tissue biopsy remains the gold standard for a definite diagnosis.
Subject(s)
Aphasia , Epstein-Barr Virus Infections , Vasculitis, Central Nervous System , Humans , Middle Aged , Epstein-Barr Virus Infections/complications , Herpesvirus 4, Human , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/drug therapy , Headache/etiology , Aphasia/complicationsABSTRACT
OBJECTIVES: Less than 1 % of patients with Lyme Neuroborreliosis (LNB) present with a cerebrovascular event. Ischaemic strokes occur more commonly than parenchymal or subarachnoid haemorrhages. If cerebral vasculitis due to LNB is suspected, antibiotic treatment should be started immediately, which will normally lead to remission. Very rarely progression and recurrent strokes are observed despite sufficient antibiotic therapy, even if steroids are added. Currently there are no guidelines on the adequate treatment of cerebral vasculitis due to LNB which is not responsive to antibiotics and steroids, but in very few reported cases cyclophosphamide led to disease stabilisation. We reviewed the literature regarding cyclophosphamide treatment in these patients and want to share our experience of cyclophosphamide therapy in progressive cerebral vasculitis due to LNB. RESULTS: We report a 71-year-old female patient with cerebral vasculitis and multiple strokes as a complication of LNB. Progression could only be halted by additional immunosuppressive treatment using cyclophosphamide. However, at that point the patient had already suffered severe ischaemic brain damage. Similarly, in existing case reports cyclophosphamide had been administered only at a time when patients already showed serious neurological deficits. CONCLUSION: Cerebral vasculitis in patients with LNB is very rare and normally responds to antibiotic treatment. A minority of patients show disease progression despite antibiotics and steroids. Our case report strengthens the recommendation that in those patients - even if signs of progressive vasculitis are only detectable on imaging and not clinically - cyclophosphamide should be considered without delay to prevent further cerebrovascular events.
Subject(s)
Lyme Neuroborreliosis , Stroke , Vasculitis, Central Nervous System , Female , Humans , Aged , Cyclophosphamide/therapeutic use , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapy , Anti-Bacterial Agents/therapeutic use , Stroke/diagnostic imaging , Stroke/drug therapy , Stroke/etiologyABSTRACT
BACKGROUND: Lyme neuroborreliosis (LNB), due to infection of the nervous system by the spirochete Borrelia burgdorferi, occurs in 15% of Lyme disease cases. However, neurovascular involvement is uncommon, especially recurrent stroke related to cerebral vasculitis in the absence of CSF pleocytosis. CASE PRESENTATION: We report the case of a 58-year-old man without any medical history who exhibited recurrent strokes in the same vascular territory (left internal carotid). Multiple biological screening, neuroimaging methods, and cardiovascular examinations failed to provide a diagnosis and treatment that could have prevented recurrences. Finally, B. burgdorferi sensu lato serology testing in blood and cerebrospinal fluid enabled diagnosis of LNB, in relation to a cerebral vasculitis. The patient experienced no further stroke after four weeks of doxycycline treatment. CONCLUSION: B. burgdorferi central nervous system infection must be considered in case of unexplained recurrent and/or multiple strokes, especially if cerebral vasculitis is suspected or demonstrated on neuroimaging.
Subject(s)
Borrelia burgdorferi , Lyme Neuroborreliosis , Stroke , Vasculitis, Central Nervous System , Male , Humans , Adult , Middle Aged , Lyme Neuroborreliosis/complications , Lyme Neuroborreliosis/diagnosis , Lyme Neuroborreliosis/drug therapy , Stroke/etiology , Cerebral Infarction , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/drug therapyABSTRACT
To observe the clinical and angiographic effectiveness of mycophenolate mofetil (MMF) as induction and maintenance immunosuppressive therapy in primary central nervous system vasculitis (PCNSV). In this open-label prospective study done at a tertiary care neurology centre, adult patients with PCNSV, diagnosed by Calabrese's criteria, were recruited from 2017 to 2021 and treated with glucocorticoids, MMF and standard of care. Patients were followed-up and clinical and angiographic changes were recorded. Total 26 patients were recruited with median age 39 years (34-49) with a slight female predilection (61.5%). Angiographic diagnoses were: small vessels disease 11.5%; large vessels disease 42.3% and both in 46.2%. Median duration of follow-up was 24.5 months (14.25-38). Proportion of patients with severe disability (modified Rankin Score (mRS) 4-6) at baseline was 73.08% (19/26) which reduced to 7.69% (2/26) (p < 0.001). At the last follow-up mRS = 0 was achieved in 38.5% (10/26) and mRS of ≤ 1 was achieved in 69.2% (18/26). Median time to achieve a mRS ≤ 1 was 12 months (95% CI: 6.8-17.2). Angiography was repeated in 16 patients after a median duration of 13 months (10.5-19.7), out of which 10 (62.5%) showed improvement and 5 (31.2%) showed non-progression of lesions. MMF may be an effective immunosuppressive therapy in adult PCNSV as both induction and maintenance. Serial DSA of brain may be useful to monitor the effect of treatment. Key Points ⢠Mycophenolate mofetil is effective as induction and maintenance immunosuppressive therapy in PCNSV. ⢠Repeat angiogram may be useful to monitor treatment response in PCNSV.
Subject(s)
Mycophenolic Acid , Vasculitis, Central Nervous System , Humans , Adult , Female , Mycophenolic Acid/therapeutic use , Prospective Studies , Vasculitis, Central Nervous System/diagnostic imaging , Vasculitis, Central Nervous System/drug therapy , Vasculitis, Central Nervous System/chemically induced , Immunosuppressive Agents , Immunosuppression TherapyABSTRACT
BACKGROUND: Primary angiitis of the central nervous system (PACNS) is a rare disease, for which no validated guidelines exist. We report the findings of a survey on the clinical practice of physicians who manage adults with PACNS. METHODS: An online survey was distributed through neurology, internal medicine, and rheumatology societies in Canada and Europe. Participants who were directly involved as treating physicians for at least two adult patients with PACNS were eligible for the survey. RESULTS: Ninety-six physicians completed the survey. Most participants were neurologists (n = 38, 40%), internists (n = 34, 35%) or rheumatologists (n = 22, 23%). Participants obtained a CNS biopsy in a median of 25% (IQR: 5-50%) of suspected PACNS cases. When determining the degree to which eight scenarios justified a CNS biopsy, participants achieved fair inter-rater agreement (Gwet's AC2 0.30, 95% CI 0.23-0.41). For induction therapy, 81 (84%) participants reported using glucocorticoids and cyclophosphamide in > 50% of patients. After obtaining remission, 85 (89%) participants systematically introduced or maintained immunosuppressive therapy. Glucocorticoids were prescribed for a median of 12 months. Maintenance therapy with another immunosuppressant was continued for a median of 24 months. In patients who achieved remission, we explored how eight scenarios with different imaging and CSF results supported an increase in treatment. Inter-rater agreement was substantial if the patient was symptomatic (0.66, 95% CI 0.58-0.80) and moderate (0.50, 95% CI 0.45-0.60) if asymptomatic. CONCLUSION: This survey illustrates current real-world management of PACNS and emphasizes several areas for which physicians still lack study-based evidence and/or clinical practice guidelines.
Subject(s)
Vasculitis, Central Nervous System , Humans , Adult , Vasculitis, Central Nervous System/diagnosis , Vasculitis, Central Nervous System/drug therapy , Immunosuppressive Agents/therapeutic use , Cyclophosphamide , GlucocorticoidsABSTRACT
INTRODUCTION: Various neurologic manifestations have already been described in children during or after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections. The central nervous system disorders reported in children are mainly encephalopathies during multisystem inflammatory syndrome. We present here an acute meningoencephalitis with cerebral vasculitis associated to a coronavirus disease 2019 (COVID-19) infection in a 13-year-old girl with a 1-year clinical, electroencephalogram (EEG), and magnetic resonance imaging (MRI) follow-up. CASE REPORT: A 13-year-old girl presented acute symptoms of consciousness impairment, frontal headache, hyperthermia, and aphasia, with moderate lymphopenia (900/mm3), elevated C-reactive protein (17 mg/L), cerebrospinal fluid (CSF) pleocytosis (15 cells/mm3), slow background with frontal focalization on EEG, a left frontal ischemic lesion, leptomeningeal enhancement, and bilateral limbic fluid-attenuated inversion recovery hyperintensity on cerebral MRI. Reverse transcription-polymerase chain reaction for SARS-CoV-2 was positive in nasopharyngeal swab and COVID serology was positive for immunoglobulin (Ig) M and G, whereas extensive autoimmune antibody investigation was negative except for a positive low titer of anti-myelin oligodendrocyte glycoprotein in CSF and blood. The diagnosis of probable encephalitis associated to cerebral vasculitis after COVID infection was suggested and steroids pulse were started. She recovered within a few days. Six months later, she had moderate clinical sequels including persistent intermittent headaches, an isolated spatial deficit, and focal spikes on the EEG without argument for epilepsia. CONCLUSION: A teenager without previous medical history presented with acute encephalitis with leptomeningitis and vasculitis after a recent COVID-19 infection. Steroids pulse therapy allowed clinical improvement. Cerebral MRI and EEG helped diagnosis, follow-up of the encephalitis, and evolution after treatment.
Subject(s)
COVID-19 , Encephalitis , Meningoencephalitis , Vasculitis, Central Nervous System , Female , Humans , COVID-19/complications , SARS-CoV-2 , Meningoencephalitis/complications , Meningoencephalitis/drug therapy , Encephalitis/drug therapy , Encephalitis/etiology , Adrenal Cortex Hormones , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/drug therapyABSTRACT
The patient was a 17-year-old girl with transient right-sided weakness and dysesthesia associated with headache and nausea. Head magnetic resonance imaging (MRI) revealed white matter lesions confined to the left hemisphere. Initially, multiple sclerosis was suspected, and methylprednisolone (mPSL) pulse therapy was administered, followed by fingolimod hydrochloride. However, on day 267, the patient again experienced transient hypesthesia. Cranial MRI showed expansion of the highly infiltrated areas of the left hemisphere on fluid-attenuated inversion recovery (FLAIR) and T2 weighted image, accompanied by edema. Multiple contrasting areas were also observed. Susceptibility-weighted imaging demonstrated several streaks and some corkscrew-like appearances with low signals from the white matter to the cortex, suggestive of occluded or dilated collateral vessels. Multiple dotted spots indicating cerebral microbleeds (MBs) were also observed. A brain biopsy revealed lymphocytic, non-granulomatous inflammation in and around the vessels. Vascular occlusion and perivascular MBs were prevalent. The patient was diagnosed with relapsing primary angiitis of the central nervous system (PACNS), and immunosuppressive treatment was initiated, mPSL 1000 mg/day pulse therapy. The patient's clinical symptoms and neuroradiological abnormalities gradually improved. She is now receiving oral prednisolone (6 mg/day) and mycophenolate mofetil (1750 mg/day). This case corresponds to unilateral relapsing, which has recently been reported as a specific clinicopathological subtype of PACNS.
Subject(s)
Vasculitis, Central Nervous System , Female , Humans , Adolescent , Vasculitis, Central Nervous System/drug therapy , Central Nervous System/pathology , Immunosuppressive Agents/therapeutic use , Prednisolone/therapeutic use , Magnetic Resonance ImagingABSTRACT
Primary angiitis of the central nervous system (PACNS) is a rare and severe disease confined to the central nervous system, i.e., the brain and spinal cord. The etiology, pathogenesis and immune mechanism of PACNS have not yet been completely elucidated. The diagnosis is challenging; it is based upon constellation of clinical picture, cerebrospinal fluid analysis, imaging methods or tissue biopsy as the gold standard. In differential diagnosis of PACNS, it is necessary to rule out infectious, malignant or systemic inflammatory diseases, as well as reversible cerebral vasoconstriction syndrome. Immunosuppressants are cornerstone therapy for PACNS, although evidence-based strategies for the management are lacking so far. PACNS is an entity with considerable morbidity and mortality. Awareness of this rare and heterogeneous disease is crucial for establishing early diagnosis and treatment initiation.
Subject(s)
Vasculitis, Central Nervous System , Humans , Vasculitis, Central Nervous System/therapy , Vasculitis, Central Nervous System/drug therapy , Central Nervous System , Immunosuppressive Agents/therapeutic use , Brain , Diagnosis, DifferentialABSTRACT
BACKGROUND: Primary angiitis of the central nervous system is a rare inflammatory vasculopathy and it is a difficult diagnosis to make because of its kaleidoscopic presentation and its multiple mimics, including multiple sclerosis. CASE PRESENTATION: A 21-year-old men presented a four-year history of progressive gait deterioration. Magnetic resonance imaging of the brain and spine showed hyperintense round-shaped lesions on T2 images, many with contrast enhancement, in supra/infratentorial and spinal segments. He received treatment for multiple sclerosis but presented clinical worsening, and follow-up neuroimaging showed persistent contrast enhancement lesions and a cerebellar hematoma. Brain biopsy was performed and demonstrated inflammatory infiltrations in blood vessels. The patient received 6 monthly schedules of 5 g methylprednisolone and 1 g cyclophosphamide with clinical stabilization. DISCUSSION: Our patient presented a primary angiitis central nervous system according to the Birnbaum and Hellmann proposed criteria. This case reinforces the importance of advancing the differential diagnosis of patients that present red flags in brain neuroimaging. CONCLUSION: The presence of the micro/macrobleeds and persistent contrast enhancing lesions should raise the suspicion of vasculitis in the differential diagnosis of multiple sclerosis.