Arteriopathies are the commonest cause of arterial ischaemic stroke (AIS) in children. Repeated vascular imaging in children with AIS demonstrated the existence of a ‘transient cerebral arteriopathy’ ...(TCA), characterized by lenticulostriate infarction due to non-progressive unilateral arterial disease affecting the supraclinoid internal carotid artery and its proximal branches. To further characterize the course of childhood arteriopathies, and to differentiate TCA from progressive arterial disease, we studied the long-term evolution of unilateral anterior circulation arteriopathy, and explored predictors of stroke outcome and recurrence. From three consecutive cohorts in London, Paris and Utrecht, we reviewed radiological studies and clinical charts of 79 previously healthy children with anterior circulation AIS and unilateral intracranial arteriopathy of the internal carotid bifurcation, who underwent repeated vascular imaging. The long-term evolution of arteriopathy was classified as progressive or TCA. Clinical and imaging characteristics were compared between both groups. Logistic regression modelling was used to determine possible predictors of the course of arteriopathy, functional outcome and recurrence. After a median follow-up of 1.4 years, 5 of 79 children (6%) had progressive arteriopathy, with increasing unilateral disease or bilateral involvement. In the others (94%), the course of arteriopathy was classified as TCA. In 23% of TCA patients, follow-up vascular imaging showed complete normalization, the remaining 77% had residual arterial abnormalities, with improvement in 45% and stabilization in 32%. Stroke was preceded by chickenpox in 44% of TCA patients, and in none of the patients with progressive arteriopathies. Most infarcts were localized in the basal ganglia. In 14 (19%) of TCA patients, transient worsening of the arterial lesion was demonstrated before the arteriopathy stabilized or improved. Thirteen TCA patients (18%) had a recurrent stroke or TIA. Thirty TCA patients (41%) had a good neurological outcome, compared with none of the five patients with progressive arteriopathy. Arterial occlusion, moyamoya vessels and ACA involvement were more frequent in progressive arteriopathies. Cortical infarct localization was significantly associated with poor neurological outcome (OR 6.14, 95% CI 1.29–29.22, P = 0.02), while there was a trend for occlusive arterial disease to predict poor outcome (OR 3.00, 95% CI 0.98–9.23, P = 0.06). Progressive arteriopathy was associated with recurrence (OR 18.77, 95%CI 1.94–181.97, P = 0.01). The majority of childhood unilateral intracranial anterior circulation arteriopathies (94%) have a course that is consistent with TCA, in which transient worsening is common. Although the arterial inflammation probably causing TCA is ‘transient’, most children are left with permanent arterial abnormalities and residual neurological deficits.
Pediatric arterial ischemic stroke (AIS) is a severe condition, with long-lasting devastating consequences on motor and cognitive abilities, academic and social inclusion, and global life projects. ...Awareness about initial symptoms, implementation of pediatric stroke code protocols using MRI first and only and adapted management in the acute phase, individually tailored recanalization treatment strategies, and multidisciplinary rehabilitation programs with specific goal-centered actions are the key elements to improve pediatric AIS management and outcomes. The main cause of pediatric AIS is focal cerebral arteriopathy, a condition with unilateral focal stenosis and time-limited course requiring specific management. Sickle cell disease and moyamoya angiopathy patients need adapted screening and therapeutics.
The general designation ischemic perinatal stroke includes several disease states that differ in pathophysiology, timing of occurrence and presentation. While it seems logical to assume that their ...prevalence and their risk factors depend primarily on the considered type of stroke, most studies used inconsistent definitions or included heterogeneous populations, which limits their accuracy. Given these biases, the French Society of Neonatology and the French Centre for Paediatric Stroke wished to update the knowledge in this domain, focusing on a specific form of perinatal stroke, i.e neonatal arterial ischemic stroke (NAIS) in term or near term newborns. A comprehensive analysis of published epidemiological data was dedicated to the following issues:
Is the prevalence of NAIS well defined from epidemiological studies?
What are the best recognized risk factors and is it possible to delineate a maternal and fetal population at risk for this condition?
On July 31, 2015 a total of four hospitalized-based and five population-based studies, and six case-control studies were found. The conclusions are the following:
The prevalence of NAIS in term or near term newborns varies from 6 to 17/100,000 live births (level of evidence 2). NAIS represents a half of total ischemic perinatal strokes (i.e. including those with delayed presentation as well) and one fourth of perinatal strokes (i.e. including cerebral haemorrhage stroke as well).
Four sets of risk factors are consistent across different studies (level of evidence 3): (1) male sex, (2) obstetrical determinants (first pregnancy, caesarean section), and two peripartum complications: (3) intrapartum hypoxia and (4) materno-fetal/neonatal infection. Bacterial meningitis, cardiac disorders/procedures and invasive care such as extra-corporeal circulation carry a risk of NAIS as well.
A registry could help refining epidemiological descriptive data. It could also be used to develop etiological studies focusing on pathophysiological hypotheses derived from the identified aforementioned risk factors.
Childhood stroke is a little-known disease in France. The objective of this study was to report the characteristics, management, treatment and outcome of stroke in terms of survival and 2-year ...recurrence rates.
The study population included children aged 29 days to 17 years, identified by their first hospitalization for stroke (excluding transient ischemic attack) in 2009 and 2010 and not hospitalized for stroke between 2005 and 2008. Data were derived from the système national d'information inter-régimes de l'assurance maladie (SNIIRAM) national health insurance information system.
For the 428 children with stroke in 2009 and the 441 children with stroke in 2010, the mean annual hospitalization rate was 3/100,000 children, comprising 0.5/100,000 for cerebral infarction (CI) and 1.5/100,000 for intracerebral hemorrhage (ICH). The youngest children presented the highest ICH rate, while, to a lesser extent, adolescents presented a higher proportion of CI. A male predominance was observed for ICH. Comorbidities were relatively common among these children prior to hospitalization: 21% had already been granted an affection de longue durée (ALD) chronic disease status and 37% had been hospitalized at least once during the previous year. The mean length of the hospital stay was 7.2 days and the hospital mortality was 3.9% (3.4% for ICH, 3.2% for CI). The 1-year mortality rate was 5.7% and the 2-year mortality rate was 6.0% (6% for ICH and 5% for CI). The readmission rate for stroke was 13% during the 1st year and 2% during the 2nd year. At 1 year, 18% of children (26% for CI) had been admitted at least once to a rehabilitation unit.
This is the first study to report the epidemiology of childhood stroke in France. The validity of this study is supported by the fact that it demonstrated homogeneous descriptive indicators to those obtained by means of various methodologies in other populations. The high mortality, recurrence, and disability rates observed during the year following the initial stroke encourage continuation of the ongoing process of standardizing the management of childhood stroke in France.
To describe aspects in clinical and genetic presentation in five patients with episodic ataxia type 2 (EA2).
CACNA1A gene screening identified a mutation in three probands and in two of their ...children.
The three probands had attacks of imbalance, associated with dizziness/vertigo and/or headache. Two of them had independent migraine attacks. Interictal oculomotor examination revealed a gaze evoked nystagmus and central oculomotor signs. Two probands had a history of strabismus. All responded well to acetazolamide. Two children were found to have both clinical and genetic abnormalities. At 23 months, one child started to have short attacks of imbalance mimicking benign paroxysmal vertigo of childhood. Then, the frequency and duration of his attacks increased and some were associated with headache. The other child developed permanent imbalance with falls at the age of 2 years, strabismus, hyperactivity and slight to moderate cognitive deficiency. When aged 10 years, this was further complicated by episodic ataxia. Genetic analysis revealed three novel mutations in the calcium channel gene CACNA1A (chromosome 19p13). The two children had the same genetic abnormality as their parents.
EA2 may present with still unknown genetic mutations in adults, and with large and various phenotypes in children, such as short attacks of imbalance or permanent imbalance, cognitive deficiency, and possibly strabismus and hyperactivity.
Over the last decade considerable advances have been made in the identification, understanding and management of pediatric arterial ischemic stroke. Such increasing knowledge has also brought new ...perspectives and interrogations in the current acute and rehabilitative care of these patients. Areas covered: In developed countries, focal cerebral arteriopathy is one of the most common causes of arterial ischemic stroke in childhood and imaging features are well characterized. However, there are ongoing debates regarding its underlying mechanisms, natural evolution and proper management. The implementation of thrombolytic therapy in acute pediatric stroke has been shown to be efficient in anecdotal cases but is still limited by a number of caveats, even in large tertiary centers. Finally, neonatal stroke represents a unique circumstance of possible early intervention before the onset of any neurological disability but this appears meaningful only in a selective group of neonates. Expert commentary: While perinatal stroke, a leading cause of cerebral palsy, appears to be multifactorial, a large number of childhood ischemic stroke are probably essentially triggered by infectious factors leading to vessel wall damage. Current research is aiming at better identifying risk factors in both conditions, and to define optimal acute and preventive therapeutic strategies in order to reduce significant long-term morbidity.
We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset ...of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p.Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, at odds with previously reported mutations that exclusively affected domains II and IV.
Highlights • We report 5 NDM patients with both chloride and sodium channel mutations. • Electrophysiological tests are particularly relevant redirecting genetic analysis. • We show the solidity of ...genotype–phenotype correlations in NDM.
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