Angiography of primary central nervous system angiitis of childhood: conventional angiography versus magnetic resonance angiography at presentation

BACKGROUND AND PURPOSE: To systematically analyze conventional angiographic (CA) features of children with primary central nervous system angiitis (cPACNS), to compare and correlate CA and MR angiography (MRA) lesion characteristics, and to define the sensitivity and specificity of MRA with CA as a reference standard. METHODS: A retrospective, single-center cohort study of consecutive patients with cPACNS was performed. Patients with CA and MRA studies at diagnosis were included. Imaging studies were blindly reviewed by 2 neuroradiologists using a standard analysis protocol. CA and MRA studies were compared using nonparametric analysis. RESULTS: Of 45 patients with MRA at diagnosis, there were 25 for whom CA and MRA studies were performed within 1 month of each other. These comprised the study group. The CA distribution of lesions was multifocal (76%) and proximal (86%) (P < .05) with a trend toward unilaterality (P = .06) with anterior circulation involvement (P = .08). The sensitivity and specificity of MRA for CA abnormality was 70% and 98%, respectively. There was no significant difference between MRA and CA for lesion detection or characterization (P = .87), and the modalities showed a fair correlation (kappa = 0.4). CONCLUSION: Angiographic lesions are multifocal and occur proximally and unilaterally within the anterior circulation. There is no significant difference in the ability of MRA to detect and characterize lesions when compared with CA.     

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) in children and adolescents is a multisystem autoimmune disease with a great variability in disease presentation and course. The diagnosis of SLE is based on the clinical and laboratory features consistent with this illness in the absence of other autoimmune disease that could explain the findings. At the time of diagnosis of SLE, most, but not all, patients have at least four of the American College of Rheumatology classification criteria for SLE. This article summarizes available epidemiologic data, clinical patterns, approaches to investigation and treatment, and recent outcome data.     

Neuropsychiatric involvement in pediatric systemic lupus erythematosus

Neuropsychiatric (NP) manifestations are found in approximately 25% of children and adolescents with pediatric SLE (pSLE). In 70% of those, NP involvement will occur within the first year from the time of diagnosis. Headaches (66%), psychosis (36%), cognitive dysfunction (27%) and cerebrovascular disease (24%) are the most common presentations. The support of a psychiatrist is often required. Anti-phospholipid antibodies are associated with distinct NP disease entities and may be implicated in the pathogenesis of several manifestations of NP-pSLE including chorea, cerebrovascular disease and seizures. The role of novel auto-antibodies and imaging modalities is currently explored. The treatment of NP-pSLE is not based on prospective studies; however, an immunosuppressive combination therapy consisting of high doses of prednisone and a second line agent such as cyclophosphamide or azathioprine is commonly suggested for children with NP-pSLE. The role of novel therapies is currently studied. The outcome of children with NP-pSLE is relatively good. The overall survival is 95-97%, 20% of children experience a disease flare during childhood and 25% have evidence of permanent neuropsychiatric damage.     

Health-related quality of life in children with inflammatory brain disease

Objective

To quantify the impact of inflammatory brain diseases in the pediatric population on health-related quality of life, including the subdomains of physical, emotional, school and social functioning.

Methods

This was a multicenter, observational cohort study of children (<?18?years of age) diagnosed with inflammatory brain disease (IBrainD). Patients were included if they had completed at least one Health Related Quality of Life Questionnaire (HRQoL). HRQoL was measured using the Pediatric Quality of Life Inventory Version 4.0 (PedsQL) Generic Core Scales, which provided a total score out of 100. Analyses of trends were performed using linear regression models adjusted for repeated measures over time.

Results

In this study, 145 patients were included of which 80 (55%) were females. Cognitive dysfunction was the most common presenting symptoms (63%), and small vessel childhood primary angiitis of the CNS was the most common diagnosis (33%). The mean child’s self-reported PedsQL total score at diagnosis was 68.4, and the mean parent’s proxy-reported PedsQL score was 63.4 at diagnosis. Child’s self-reported PedsQL scores reflected poor HRQoL in 52.9% of patients at diagnosis. Seizures or cognitive dysfunction at presentation was associated with statistically significant deficits in HRQoL.

Conclusion

Pediatric IBrainD is associated with significantly diminished health-related quality of life. Future research should elucidate why these deficits occur and interventions should focus on improving HRQoL in the most affected subdomains, in particular for children presenting with seizures and cognitive dysfunction.

     

The spectrum of CNS vasculitis in children and adults

Children and adults who present with severe, newly acquired neurological or psychiatric deficits should be evaluated for an underlying inflammatory brain disease-the inflammation could be reversible, if diagnosed and treated rapidly. In our experience, primary angiitis of the central nervous system (PACNS) is the most common inflammatory brain disease and is increasingly recognized across patients of all ages. Distinct disease subtypes have been reported with characteristic disease courses, neuroimaging features and histopathological findings. In this Review, we provide a comprehensive comparison of childhood and adult PACNS, revealing distinct gender distributions, characteristic presenting clinical phenotypes and tailored differential diagnosis evaluations in the different subtypes of PACNS. Novel and traditional laboratory markers can help to define disease subtype and activity, whilst MRI and angiography can aid diagnosis in both children and adults. Characteristic patterns of parenchymal lesions and vessel involvement have been identified in PACNS and differ markedly between subtypes. Brain histopathology has also revealed distinct inflammatory pathways at different ages. Immunosuppressive treatment protocols have been shown to be effective and safe across the age spectrum; overall, in the past few years, the mortality of PACNS has decreased dramatically.     

Central nervous system vasculitis in children

PURPOSE OF THE REVIEW: To summarize the current literature on central nervous system vasculitis in childhood because this condition remains a diagnostic and therapeutic challenge. RECENT FINDINGS: Central nervous system vasculitis in childhood may be primary or secondary to a variety of conditions including infections, collagen vascular diseases, systemic vasculitides, and malignancies. Conditions that result in vasospasm or are associated with noninflammatory vasculopathies may mimic the features of central nervous system vasculitis. Recent studies have described the clinical spectrum of CNS vasculitis in childhood. The most common presenting features are headaches and focal neurologic deficits. The diagnosis of central nervous system vasculitis remains particularly difficult because the available investigative modalities have limited sensitivities and specificities. The most helpful diagnostic tests include cerebrospinal fluid analysis, MRI of the brain, and angiography. However, brain biopsy may be required to diagnose small vessel vasculitis. SUMMARY: This review summarizes recent data on primary central nervous system vasculitis and some of the secondary CNS vasculitides in children. Awareness of the presenting clinical features of CNS vasculitis should lead to consideration of the diagnosis. Awareness of the sensitivity and specificity of the various diagnostic tests should lead to the more prudent use of invasive diagnostic tests including angiography and brain biopsy.