A 56-year-old woman with Down syndrome presented with right-sided weakness and dysarthria, and was found on CT/CTA to have a left middle cerebral artery infarct secondary to moyamoya disease. Her left posterior inferior cerebellar artery (PICA) was fed both by the left vertebral artery, and the left ascending pharyngeal artery (APA), with a variant origin from the internal carotid artery (ICA), then passing through the jugular foramen (Figure 1). Her right PICA originated exclusively from her right occipital artery, also via the jugular foramen (Figure 2). The left vertebral artery originated directly from the aortic arch, whereas the right vertebral artery originated from the brachiocephalic trunk. In addition, she had a trifurcated anterior cerebral artery (ACA), and just prior to this trifurcation, her left ACA was partially supplied by the left ICA, via a superior hypophyseal artery. This case is noteworthy for several reasons. First, though it is exceedingly rare to have the PICA supplied by the jugular branch of the APA, this is the first reported case with an ICA origin of that APA.1,2 The fact that both PICAs in this patient originate from the anterior circulation should remind clinicians that in unexplained posterior circulation infarctions, vascular anatomy should be explored, as carotid-vertebrobasilar anastomoses such as these are rare, but possible. Lastly, the conjunction of moyamoya disease and anomalies of the vertebrobasilar system in a patient with Down syndrome raises interesting questions about the influence of trisomy 21 on the developing vasculature. Connections from the APA to the vertebrobasilar system are hypothesized to result from a lack of regression of an embryological anastomosis, in line with the more common persistent trigeminal and persistent hypoglossal arteries.1 Patients with moyamoya disease have a significantly higher rate of persistent carotid-vertebrobasilar anastomoses than the general population,3 and are also 26 times more likely to have Down syndrome.4 Correspondingly, patients with Down syndrome have significantly higher levels of moyamoya disease, and are more than 10 times as likely as the general population to have abnormalities of the Circle of Willis5 and vertebral arteries.6 Several genes on chromosome 21 are known to affect angiogenesis, namely collagen XIII/endostatin (COL18A1), DYRK1A, and Down syndrome candidate region 1 (DSCR1), possibly through inhibition of VEGF activity.7 Whether additional copies of these genes are responsible for the anomalous vascular development seen in Down syndrome, in turn predisposing to the development of moyamoya disease, could benefit from further exploration.

Background: Headache is a prevalent and disabling condition in children. It is a frequent cause of medication and health resource use in children. We examined the incidence and nature of health service use of the pediatric patient population in Alberta using provincial linked administrative databases. Methods: We used linked administrative data to identify patients under the age of 18 years from 2010-2017 and ICD-10 headache type at diagnosis and health service utilization including cost, medication use, outpatient/ED visits and hospitalizations. Patient geographic location was mapped. We explored health system use in the 3 years before and after diagnosis by identifying visits to community physicians, outpatient clinics emergency departments an inpatient admissions. Results: Over the 7 year study period 45,454 patients were identified under 18 years, 60% of patients first diagnosed with migraine, 11.7% (5308) with tension headache and 28.2 (12,833) with unspecified headache. Higher health system utilization seen immediately before and after headache diagnosis, returning to pre-diagnosis values within the 3 years following. Conclusions: This is the first population based reporting of pediatric headache prevalence and health resource utilization in Alberta. This contemporary prevalence and health resource data use should help inform future policy and headache care in the province of Alberta.

Background: Predictors of hospitalization and reasons for admissions can inform healthcare planning and prevention. We sought to characterize the hospitalization pattern and risk factors for admission of children with cerebral palsy (CP). Methods: Data from the Registre de paralysie cérébrale du Québec and provincial administrative databases were linked. The CP cohort contained children born between 1999 and 2002. Data related to admissions were captured in 2012. Relative risks (RR) were calculated to identify factors increasing hospitalization risk. Peers without CP were matched from administrative databases in a 20:1 ratio. Chi-square tests and Student’s T-tests were used to compare cohorts. Results: 301 children with CP and 6040 peer controls were selected. Hospitalizations were increased in children with CP (raw mean difference (RMD) 5.0 95% CI 4.7 to 5.2), with significantly longer lengths of stay (RMD 2.8 95% CI 1.8 to 3.8) and number of diagnoses per hospitalization (RMD 1.6 95% CI 1.4 to 1.8). Increased risk of any hospitalization was observed in children with a more complex profile. Conclusions: Children with a more severe profile of CP and greater health care complexity face more frequent and longer hospital stays. Coordinated interdisciplinary care is needed in school-aged children with CP and medical complexity.

We examined to what extent clinical assessment alone can predict subtle acute cerebral infarction on magnetic resonance imaging (MRI). Of the 72 patients presented to the emergency department (ED) with transient neurological deficits, 26 (36.1%) were predicted to be “positive” and 46 (63.9%) “negative” for transient ischemic attack/minor stroke by two independent neurologists. Twenty patients (27.8%) had acute restricted diffusion on MRI. Clinical assessment showed substantial agreement with MRI findings (Kappa = 0.75), sensitivity (95.0%), specificity (86.5%), positive-likelihood ratio 7.06, and negative-likelihood ratio 0.06. Neurological assessment has an excellent predicting value for MRI-confirmed acute cerebral infarction and a key role in the facilitation of effective patient care in the ED.

A 70-year-old man presented to the Emergency Department reporting the acute onset of non-fluent aphasia, hyposthenia, and hemi-anesthesia of the right body. Brain computerized tomography revealed a subcortical hypodense lesion in the middle cerebral artery territory. Neck ultrasounds of internal and external carotid arteries and of the vertebral arteries showed a focal moderate stenosis of the left internal carotid artery due to a soft atheromasic plaque. These findings that were initially consistent with a diagnosis of an ischemic stroke were not confirmed by magnetic resonance (MR). The latter showed an hyperintense lesion on FLAIR and T2-weighted sequences located in the left centrum semiovale, corona radiata, and thalamus, with a well-defined regular rim and a mild compressive effect on the lateral ventricle, with diffusivity restriction but without ADC reduction and with a punctate and serpiginous gadolinium enhancement on T1 sequences (Figure 1). Within the first day of observation, the patient started complaining progressive mental deterioration, in absence of any other possible causes, and a total body CT scan excluded any other organ involvement. Patient was then referred to the neurosurgeon in order to perform a brain biopsy. The neuropathology was compatible with the diagnosis of cerebral lymphomatoid granulomatosis (LG) (Figure 1).

Background: Epileptic encephalopathy with electrical status epilepticus in sleep (ESES) is a pediatric epilepsy syndrome with sleep induced epileptic discharges and acquired impairment in cognition, language and/or behavior. Despite the widespread use of high dose diazepam, there is limited research on its efficacy. Methods: Single-center, retrospective case-series of children presenting with cognitive/ language regression and ESES from 2014-2019. All children underwent baseline overnight EEG followed by diazepam (1mg/kg) administered per rectum, and continuation of 0.5 mg/kg of oral diazepam for 3 months. Follow up EEGs were performed following the first dose and after 6-9 weeks of treatment. Results: 23 children were included [male 14 (60%); mean age 7 years (4 -12)]. 10 children (45%) had symptomatic epilepsy (defined by abnormal MRI and/or genetic evaluation). Decrease in more than 25% of the spike activity was seen in 18 (78%). This effect was sustained in 11 children (47%) after 6 weeks. Only 6 (60%) children from the symptomatic group had EEG response, while 11 (91%) responded from the idiopathic group. 5 children (21%) had clinically significant cognitive/ language improvement. Conclusions: Treatment with diazepam reduces epileptiform activity in ESES in majority of children. Despite this reduction only minority of patients experience clinically significant cognitive improvement.

An often overlooked facet of the indirect costs affecting working-age stroke survivors is the challenges experienced by those who return to work. This study quantified the productivity loss in 20 stroke survivors who returned to work which amounted to 53.0 missed work days and an average indirect cost of $10,298 (CAD) in the year following a stroke. Despite the quantified productivity loss, 75% of patients reported no significant disability and a high proportion were self-employed compared to the Canadian population, indicating that socioeconomic factors may be driving patient decisions to return to work.

Neural antibodies have emerged as useful biomarkers in suspected autoimmune encephalitis. We reviewed results of neural antibody testing (anti-N-methyl D-aspartate receptor (NMDAR), leucine-rich glioma-inactivated protein (LGI1), contactin-associated protein-like 2 (CASPR2), α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), γ-aminobutyric acid type B receptor (GABA(B)R), dipeptidyl-peptidase-like protein-6 (DPPX), IgLON family member 5 (IgLON5) and glutamic acid decarboxylase-65 (GAD65)) using cell-based assays (CBAs) and tissue indirect immunofluorescence (TIIF) at our centre. Our findings suggest increased clinical sensitivity of CBA compared to TIIF. However, this may come at some expense to clinical specificity, as evidenced by possible false-positive results when weak serum positivity by CBA was observed for certain antibodies (i.e. anti-NMDAR, CASPR2). In such cases, correlation with serum TIIF, as well as CSF CBA and TIIF, aids in identifying true-positive results.