Search

Am J Neuroradiol 2009; 30: 232 - 52. 6 Toelle SP, Avetisyan T, Kuyumjyan N, Sukhudyan B, Boltshauser E, Hackenberg A. Infantile basal ganglia stroke after mild head trauma associated with mineralizing angiopathy of lenticulostriate arteries: an under recognized entity. Abbreviation AIS Arterial ischemic stroke In 2014, Lingappa et al.1 described a distinct clinicoradiological stroke syndrome in children, which they called "mineralizing angiopathy". We propose that a subgroup of children with isolated idiopathic basal ganglia AIS after minor head injury have mineralizing angiopathy and warrant consideration of a non-contrast CT to demonstrate the calcifications. Three had silent basal ganglia infarcts detected at the time of acute presentation, four had basal ganglia hemorrhage, and three had parietal or thalamic calcifications (Fig. [Extracted from the article]

Aim: To assess long‐term cognitive function in children after cerebral sinovenous thrombosis (CSVT). Method: Children with CSVT, who had neuropsychological testing for intellectual ability, executive function, attention, language, or behavior, were included in a prospective observational study. Outcomes were compared with normative means using one‐sample t‐tests. Predictors of abnormal function were examined using logistic regression. Results: Fifty children with CSVT were included (median age at diagnosis 2y 10mo, interquartile range 7d–6y 10mo; 35 males, 15 females). The median follow‐up time was 4 years 2 months (interquartile range 2y 8mo–6y 4mo). Compared with normative means, children with CSVT had lower mean (± standard deviation) full‐scale IQ, working memory, and processing speed scores (93.3±16, p=0.01; 93.6±16, p=0.04; 93.7±15.3, p=0.02 respectively). They also had lower scores in executive function, attention, and language domains. Refractory seizure at presentation was associated with a trend in behavioral problems (odds ratio [OR] 6.3, 95% confidence interval [CI] 0.9–46, p=0.07). Females were less likely to experience processing speed difficulties (OR 0.22, 95% CI 0.04–1.3, p=0.09). Incomplete recanalization was associated with a greater risk of abnormal verbal comprehension (OR 5.3, 95% CI 0.93–30.5, p=0.059). Interpretation: Children with CSVT as a group performed below age expectations on standardized neuropsychological tests, although there was variability across individuals and cognitive domains. Larger studies are needed to evaluate predictors of cognitive deficits in children with CSVT. [ABSTRACT FROM AUTHOR]

Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss‐of‐function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment. [ABSTRACT FROM AUTHOR]

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: We aimed to evaluate whether an institutional acute stroke protocol (ASP) could accelerate the diagnosis and secondary treatment of pediatric stroke.Method: We initiated an ASP in 2005. We compared 209 children (125 males, 84 females; median age 4.8y, interquartile range [IQR] 1.2-9.3y, range 0.09-17.7y) diagnosed with arterial ischemic stroke 'pre-protocol' (1992-2004) to 112 children (60 males, 52 females; median age 5.8y, IQR 1.0-11.4y, range 0.08-17.7y) diagnosed 'post-protocol' (2005-2012) for time-to-diagnosis, mode of diagnostic imaging, and time-to-treatment with antithrombotic medication (aspirin or anticoagulants).Results: Overall, the interval from symptom onset to diagnosis was similar post-protocol compared to pre-protocol (20.3 vs 22.7h; p=0.109), although mild strokes (Pediatric National Institute of Health Stroke Scale [PedNIHSS] 0-4), were diagnosed faster post-protocol (12.1 vs 36.3h; p=0.003). Magnetic resonance imaging (MRI) was the initial diagnostic modality more often post-protocol (25% vs 1.4%; p<0.001). Initial MRI was more accurate for diagnosing stroke than initial CT (100% vs 47%; p<0.001) with similar time-to-diagnosis. The proportion of children receiving antithrombotic medication within 24 hours doubled in the post-protocol period (83% vs 36%; p<0.001).Interpretation: A pediatric ASP accelerated time-to-treatment, time-to-diagnosis in children with subtle strokes, and increased MRI as initial imaging, reducing the need for computed tomography. Implementing optimized ASPs can facilitate more timely access to diagnosis and management of children with acute stroke. [ABSTRACT FROM AUTHOR]

Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. Methods We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic patient charts were reviewed for clinical features, neuroimaging, biochemical investigations, and molecular genetic investigations including targeted next-generation sequencing of epileptic encephalopathy genes. Results Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes. Forty-five percent of patients obtained a genetic diagnosis by targeted next-generation sequencing epileptic encephalopathy panels. It is notable that 4.5% of patients had a treatable inherited metabolic disease. Significance To the best of our knowledge, this is the first study to combine inherited metabolic disorders and other genetic causes of epileptic encephalopathy. Targeted next-generation sequencing panels increased the genetic diagnostic yield from <10% to >25% in patients with epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Aim To describe outcomes and outcome predictors in childhood basilar artery stroke ( BAS). Method We prospectively enrolled children with BAS with or without basilar artery occlusion ( BAO) in the Toronto Children's Stroke Registry from 1992 to 2009. We assessed presenting features and outcomes including Pediatric Stroke Outcome Measure scores. Results Among 578 children with acute arterial ischemic stroke, 27 had BAS (4.6% including neonates, 6% excluding neonates). Twenty-four (14 males, 10 females) children met study criteria (mean age at stroke was 8y 10mo; range 0-17y). Eleven children had BAO. Aspirin or anticoagulation was given to 15 children. None received tissue plasminogen activator or endovascular treatments. At mean follow-up (3y 2mo, range 1mo-11y 8mo), 12 had a 'good outcome' (seven normal, five insignificant deficit) and 12 had 'poor outcome' (10 moderate or severe deficit, two acute deaths). Larger infarct size (≥50% of axial brainstem diameter) independently predicted poor outcome ( p=0.02; odds ratio 21.2, 95% confidence interval 1.6-274.9) but not BAO, altered level of consciousness, or age. Interpretation Compared with adults, in childhood BAS death is rare and survivors frequently have good outcomes. Aggressive endovascular interventions may not be justifiable in this population. [ABSTRACT FROM AUTHOR]

Aim Wallerian degeneration is a radiological finding thought to reflect corticospinal tract degeneration. This finding on magnetic resonance imaging (MRI) is routinely used as a predictor of poor prognosis in childhood stroke. However, its validity has never been established. Our objective was to correlate Wallerian degeneration seen on MRI with histopathology. Method We searched the databases of the Department of Pathology and Children's Stroke registry at the Hospital for Sick Children, Toronto for autopsy specimens exhibiting focal infarcts from children born at term who underwent MRI after a stroke. The specimens were examined for Wallerian degeneration and then correlated with the pre-mortem MRI findings. Results Seven children (four females, three males) with a median age of 11 years (1-17y) at the time of stroke met the inclusion criteria for this study. Of the seven children included in the study with ischaemic or haemorrhagic infarcts, six had concordant Wallerian degeneration findings on both MRI and post-mortem histopathological examination. The median time between stroke and death was 20 days (3-1825d). Interpretation Our results show for the first time that the radiographic finding of Wallerian degeneration is a valid biomarker of corticospinal tract degeneration in children who have had ischaemic or haemorrhagic stroke. [ABSTRACT FROM AUTHOR]

Aim Moyamoya vasculopathy is characterized by progressive stenosis of the major arteries of the Circle of Willis, resulting in compromised cerebral blood flow and increased risk of stroke. The objectives of the current study were to examine intellectual and executive functioning of children with moyamoya and to evaluate the impact of moyamoya type, stroke (clinical or silent), vasculopathy laterality, and disease duration on neurocognitive abilities. Method Thirty pediatric participants (mean age 10y 10mo, SD 4y; 18 females, 12 males) completed age-appropriate Wechsler Intelligence Scales before any therapeutic revascularization procedures. Reports of executive function were obtained from parents and teachers using the Behavior Rating Index of Executive Function. Results Children with moyamoya scored significantly lower than the test standardization samples on all indices of intelligence and ratings of executive functioning ( p<0.001). Patients did not differ by type of moyamoya or history of stroke. Patients with bilateral disease and stroke scored significantly lower than those with unilateral disease on measures of overall intellectual function ( p=0.035) and verbal comprehension ( p=0.04). Deficits in metacognitive executive functions were also more pronounced in bilateral patients according to teacher ratings. Interpretation Children with moyamoya are at risk for intellectual and executive problems, exacerbated by bilateral disease and clinical stroke history. [ABSTRACT FROM AUTHOR]

Objective Clinical trials are lacking in pediatric cerebral sinovenous thrombosis (CSVT). Neonates and children increasingly receive anticoagulant therapy (ACT) based on adult studies. Safety data for ACT in pediatric CSVT are scant and urgently needed. The objective was to assess the safety and outcome of ACT in pediatric CSVT. Methods In a single-center prospective study, neonates and children with CSVT received ACT (standard/low molecular weight heparin, warfarin) by standardized protocol. A study neuroradiologist (M.S.) assessed all initial and follow-up neuroimaging for intracranial hemorrhage (ICH), thrombus propagation, and recanalization. Clinical outcome was assessed with the Pediatric Stroke Outcome Measure. Results Among 162 pediatric patients, 85 received ACT at diagnosis, including 29/83 (35%) neonates and 56/79 (71%) children. Major hemorrhage occurred in 6% (6/99) of treated patients, including 14% (3/21 neonates, 2/15 children) with and 2% (0/17 neonates, 1/46 children) without pretreatment ICH. ACT-associated bleeds were all nonfatal, and clinical outcome was favorable in 50%, similar to the remaining patients (53%). Early follow-up imaging demonstrated thrombus propagation in 11/57 neonates (10/35 [28%] without and 1/22 [4%] with ACT [ p = 0.037]) and 10/63 children (7/19 [37%] without and 3/44 [7%] with ACT [ p = 0.006]). Propagation was associated with new venous infarcts in 10% neonates and 40% children and worse clinical outcome in children ( p = 0.053). Recanalization occurred earlier and more completely in neonates ( p = 0.002). Clinical outcome was unfavorable in 47%. Interpretation In pediatric CSVT, ACT appears safe. Nontreatment with ACT is associated with thrombus propagation, observed in ¼ of untreated neonates and over ⅓ of children. Anticoagulants merit strong consideration in pediatric CSVT. ANN NEUROL 2010;67:590-599 [ABSTRACT FROM AUTHOR]

Status dystonicus is the most severe form of dystonia with life‐threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre–status dystonicus and status dystonicus), as well as refractory status dystonicus in children. This guideline provides a stepwise approach to assessment, triage, interdisciplinary treatment, and monitoring of status dystonicus. The clinical pathways aim to: (1) facilitate timely recognition/triage of worsening dystonia, (2) standardize supportive and dystonia‐directed therapies, (3) provide structure for interdisciplinary cooperation, (4) integrate advances in genomics and neuromodulation, (5) enable multicenter quality improvement and research, and (6) improve outcomes. © 2024 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Aim Method Results Interpretation To describe the rates of stroke and craniocervical vasculopathy progression in children with posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACE) syndrome.A single‐center, retrospective natural history study of children with PHACE syndrome. Clinical and sequential neuroimaging data were reviewed to study the characteristics and progression of vasculopathy and calculate the rates of arterial ischemic stroke (AIS) and transient ischemic stroke (TIA). Vasculopathy progression was defined as worsening or new vascular findings on follow‐up magnetic resonance angiography.Thirty‐four children with cerebrovascular abnormalities at the PHACE syndrome diagnosis were studied (age range = 2 to 18 years, 85% females). Median age at the initial diagnosis was 5.5 months (interquartile range = 1–52 months); median age at the last follow‐up was 8 years 6 months (range = 2–18 years). Overall, 10 (29%) patients had radiological progression of their vasculopathy, with a cumulative progression‐free rate of 73% (95% confidence interval [CI] = 0.57–0.89), and a cumulative TIA‐free and AIS‐free rate of 87% (95% CI = 0.745–0.99). Vasculopathy was continuously progressive in six patients (18%) at the last follow‐up. Three patients (9%) had TIA and all had progressive vasculopathy. One patient had presumed perinatal AIS at the initial PHACE diagnosis, while no other patient experienced an AIS during the follow‐up.In children with PHACE syndrome, craniocervical vasculopathy is non‐progressive and asymptomatic in the majority of cases. The risk of ischemic stroke in these children is very low. Larger and prospective studies are necessary to confirm these findings. [ABSTRACT FROM AUTHOR]

The article discusses the benefits of anticoagulation therapy (ACT) in the treatment of neonatal cerebral sinovenous thrombosis (CSVT) in the presence or absence of pre‐existing intracerebral haemorrhage (ICH). It is mentioned that ACT may reduce thrombus propagation. The article further adds that a position of equipoise is justified, supporting the need for placebo‐controlled randomized trials.

This commentary is on the original article by van der Aa et al. on pages 283–290 of this issue. [ABSTRACT FROM AUTHOR]

The author comments on a study about cerebral sinovenous thrombosis in children. According to the author, accurate diagnosis of this disease requires dedicated intracranial venous imaging techniques such as computed tomography venography and magnetic resonance venography. The author cites the reasons why most neonates are not given anticoagulation therapy. The author asserts that this study needs to be interpreted with caution due to limitations.