Epidemiology, Clinical Presentation, and Prognosis of Posterior Circulation Ischemic Stroke in Children.

BACKGROUND: Anterior and posterior circulation strokes are often different in terms of presentation and recurrence risk, but there are few studies that focused on posterior circulation stroke. METHODS: We performed a longitudinal retrospective study of children, birth to 18 years, with posterior circulation ischemic stroke at the Children's Hospital Winnipeg from January 1992 to December 2012. Clinical and radiological features and outcomes were collected using standardized tools. RESULTS: Of the 158 children with arterial ischemic stroke, 23 (14.5%) children, 21 non-neonates, and 11 males were identified. For posterior circulation ischemic stroke, mean crude incidence of 0.38 and crude mortality rate of 0.11 per 100,000 person-years was estimated. The crude total period prevalence rate for the study period was estimated as 8.1 per 100,000 children. Nonspecific symptoms before stroke presentation were present in 38% and impaired consciousness in 71%. Identifiable risk factors were present in two thirds: vasculopathy 24%, infection 19%, trauma 14%, and congenital heart disease 9.5%. Average Pediatric National Institutes of Health Stroke Scale score at presentation was 11. Poor outcome was noted in 45%. Outcome did not change significantly between 12 and 24 months. Aboriginal ethnicity (P = 0.01), high Pediatric National Institutes of Health Stroke Scale score (P = 0.001), bilateral infarction (P = 0.001), and large caliber artery territory infarction (P = 0.02) predicted poor outcome. CONCLUSIONS: Our hospital-based incidence and outcome data provide valuable information to help direct treatment strategies and prognosticate children with posterior circulation ischemic stroke. Our study calls for close observation and early management of children with posterior circulation stroke, in particular with aboriginal ancestry and bilateral and large artery territory infarction.

Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry.

BACKGROUND: Pediatric arterial ischemic stroke remains incompletely understood. Population-based epidemiological data inform clinical trial design but are scant in this condition. We aimed to determine age-specific epidemiological characteristics of arterial ischemic stroke in neonates (birth to 28 days) and older children (29 days to 18 years). METHODS: We conducted a 16-year, prospective, national population-based study, the Canadian Pediatric Ischemic Stroke Registry, across all 16 Canadian acute care children's hospitals. We prospectively enrolled children with arterial ischemic stroke from January 1992 to December 2001 and documented disease incidence, presentations, risk factors, and treatments. Study outcomes were assessed throughout 2008, including abnormal clinical outcomes (stroke-related death or neurological deficit) and recurrent arterial ischemic stroke or transient ischemic attack. RESULTS: Among 1129 children enrolled with arterial ischemic stroke, stroke incidence was 1.72/100,000/year, (neonates 10.2/100,000 live births). Detailed clinical and radiological information were available for 933 children (232 neonates and 701 older children, 55% male). The predominant clinical presentations were seizures in neonates (88%), focal deficits in older children (77%), and diffuse neurological signs (54%) in both. Among neonates, 44% had no discernible risk factors. In older children, arteriopathy (49% of patients with vascular imaging), cardiac disorders (28%), and prothrombotic disorders (35% of patients tested) predominated. Antithrombotic treatment increased during the study period (P < 0.001). Stroke-specific mortality was 5%. Outcomes included neurological deficits in 60% of neonates and 70% of older children. Among neonates, deficits emerged during follow-up in 39%. Overall, an initially decreased level of consciousness, a nonspecific systemic presentation, and the presence of stroke risk factors predicted abnormal outcomes. For neonates, predictors were decreased level of consciousness, nonspecific systemic presentation, and basal ganglia infarcts. For older children, predictors were initial seizures, nonspecific systemic presentation, risk factors, and lack of antithrombotic treatment. Recurrent arterial ischemic stroke or transient ischemic attack developed in 12% of older children and was predicted by arteriopathy, presentation without seizures, and lack of antithrombotic treatment. Emerging deficit was predicted by neonatal age at stroke and by cardiac disease. CONCLUSIONS: This national data set provides a population-based disease incidence rate and demonstrates the protective effect of antithrombotic treatment in older children, and frequent long-term emerging deficits in neonates and in children with cardiac disorders. Further clinical trials are required to develop effective age-appropriate treatments for children with acute arterial ischemic stroke.

Cardioembolic stroke in children: a clinical presentation and outcome study.

BACKGROUND: Cardiac disease is a common cause of ischemic stroke in children. Limited information is available about its incidence and long-term outcome. METHODS: We undertook a retrospective study of children (age 0-17 years) with cardioembolic arterial ischemic stroke, occurring between 1992 and December 2007. Study subjects were observed at the Winnipeg Children's Hospital and identified using multiple databases and disease code searches. RESULTS: We identified 84 children with arterial ischemic stroke, 17 (20%) of which were cardioembolic stroke (15 non-neonates; 10 females; mean age 4.6 years). The crude annual incidence rate for cardioembolic stroke was estimated to be 0.39 and mortality rate of 0.046 per 100,000 person-years. Stroke occurred commonly in children <5 years (65%) and during hospitalization (65%). Initial presenting symptoms were focal deficits 12 (71%), altered consciousness 5 (29%), seizures 5 (29%), and headache 3 (18%). The mean stroke severity measured by Pediatric National Institutes of Health Stroke Scale was 14.5 (range 2-40) at presentation and 3.7 (range 0-9) at discharge, with mean acute recovery from stroke presentation to discharge of 9.94 (0-32). At 2 years, poor outcome was evident in 10 (59%) children: 2 or >2 Pediatric Stroke Outcome Measure score in 6 (35%), death in 2 (12%), and recurrent stroke in 2 (12%). Factors associated with poor outcome included headache (P = 0.048), high Pediatric National Institutes of Health Stroke Scale at presentation (r = 0.57; P = 0.05) and discharge (r = 0.58; P = 0.05), and high Pediatric Stroke Outcome Measure at discharge (r = 0.77; P = 0.0008). CONCLUSION: Our cohort provides hospital-based incidence estimates for children with cardioembolic stroke. Pediatric National Institutes of Health Stroke Scale performed at different time points can be a helpful tool in measuring stroke recovery and needs to be further explored.

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.

Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the mtDNA helicase gene, c10orf2, with an increased frequency in the Finnish population due to a founder mutation. We describe a child of English descent who presented with a severe phenotype of IOSCA as a result of two-novel mutations in the c10orf2 gene. This paper expands the phenotypic spectrum of IOSCA and adds further evidence for the presence of a genotype-phenotype correlation among patients with recessive mutations in this gene.

Primary trabeculectomy with mitomycin C: safety and efficacy at 2 years.

PURPOSE: To examine the rates of intermediate-term intraocular pressure (IOP) control after trabeculectomy with adjunctive mitomycin C (MMC) and assess for associated complications. METHODS: Medical records of patients undergoing primary trabeculectomy with MMC at Concord Repatriation Hospital, Sydney between January 1997 and December 2005 were reviewed. All eyes with a minimum of 2-year follow up were included. Follow-up data were collected in a standardized form on postoperative IOP, bleb-related and other complications. Success was measured as IOP ≤ 18 mmHg and ≥ 6 mmHg (criteria 1) with (qualified success) or without (absolute success) the use of glaucoma medications. A secondary outcome measure was an IOP reduction of greater than 20% from baseline (criteria 2). Eyes with preoperative IOP of 18 mmHg or less were included, but also analysed separately to those eyes with preoperative IOP above 18 mmHg. RESULTS: Sixty eyes from 42 patients were included in the study, with 3-year follow up on 48 eyes. Mean preoperative IOP was 25.3 mmHg (range 8-45) and mean postoperative IOP was 14.0 mmHg at 1- and 2-year follow up, and 14.7 mmHg at 3 years (ranges: 3-31, 4-30 and 8-45 mmHg respectively). Cumulative success for criteria 1 was 85.0% at 2 years and 83.3% at 3 years, and for criteria 2 it was 80.0% and 79.2%, respectively. The number of eyes on glaucoma medications was reduced from 51 preoperatively to 30 at 3 years. Complications were infrequent. There was one eye with a shallow anterior chamber beyond the immediate postoperative period. One eye required cataract surgery at 1-year follow up. Subgroup analysis was performed using the first operated eye only, and results did not differ significantly from overall results. CONCLUSION: MMC-augmented trabeculectomy can significantly reduce IOP in the short and intermediate term, with a favourable safety profile.

Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.

BACKGROUND: The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular apraxia, telangiectasias, immunodeficiency, cancer susceptibility and hypersensitivity to ionizing radiation. METHODS: We describe the clinical features and course of three Mennonite children who were diagnosed with A-T following the completion of therapy for lymphoid malignancies. RESULTS: Prior to cancer therapy, all had non-progressive atypical neurological abnormalities, with onset by age 30 months, including dysarthria, dyskinesia, hypotonia and/or dystonia, without telangiectasias. Cerebellar ataxia was noted in only one of the children and was mild until his death at age eight years. None had severe infections. All three children were "cured" of their lymphoid malignancies, but experienced severe adverse effects from the treatments administered. The two children who received cranial irradiation developed supratentorial primitive neuroectodermal tumors of the brain, an association not previously described, with fatal outcomes. CONCLUSIONS: The range of neurological presentations of A-T is broad. Ataxia and telangiectasias may be minimal or absent and the course seemingly non-progressive. The diagnosis of A-T should be considered in all children with neuromotor dysfunction or peripheral neuropathy, particularly those who develop lymphoid malignancies. The consequences of missing the diagnosis may be dire. Radiation therapy and radiomimetic drugs should be avoided in individuals with A-T.

Early-onset neurodegenerative disease of the cerebellum and motor axons.

We describe a novel hereditary neurodegenerative disease of infancy affecting an Aboriginal family from northern Manitoba, Canada. The parents are nonconsanguineous, without a family history of neurodegenerative diseases. Four of 10 siblings (three males and one female) presented with neurologic abnormalities including arthrogryposis, seizures, and severe developmental delay shortly after birth. In two children, cerebellar atrophy and mild cerebral atrophy were documented on neuroimaging. Two children, a boy who died at age 40 months and a girl who died at age 22 months, underwent muscle biopsies at 3 weeks and 4 months of age, respectively. The biopsies revealed fiber-size variability in the boy, and grouped atrophy with fiber-type grouping in the girl. Two boys who died at ages 7.5 and 37 months underwent autopsies that indicated severe atrophy of the cerebellar hemispheres (especially the inferior lobules and vermis), hypomyelination of white-matter fascicles in the striatum, severe atrophy of corticospinal tracts in the brainstem and spinal cord, and atrophy of the anterior spinal roots. In the spinal cord, motor neuron cell bodies and the posterior columns were spared. This clinical entity likely represents a novel neurodegenerative disease of the cerebellum and long motor axons.

Postoperative Mycobacterium abscessus nodular conjunctivitis.

Non-tuberculous or 'atypical' mycobacteria are unusual causes of ocular or periocular infection. We report a case of postoperative Mycobacterium abscessus infection of the conjunctiva. A 71-year-old gentleman developed nodular conjunctival injection and irritation 6 weeks after cataract surgery. After failure of topical therapy with antibiotics, steroids and lubricants, a biopsy was taken. Histological examination revealed non-caseating granulomas within which were clusters of acid-fast bacilli, subsequently identified as M. abscessus. The patient received a total of 16 weeks of oral antimycobacterial treatment and the conjunctivitis completely resolved. A suspected recurrence was successfully treated with topical ciprofloxacin and at final follow up 15 months later there was no evidence of infection. To the best of our knowledge this is the first report of non-tuberculous mycobacterial infection of the conjunctiva occurring after cataract surgery.

GLUT1 deficiency without epilepsy: yet another case.

Glucose transporter type 1 (GLUT1) deficiency syndrome is a metabolic disorder characterized by a low cerebrospinal fluid glucose level caused by decreased activity of the glucose transporter protein. Of approximately 100 patients described with this syndrome in the published literature to date, only 3 patients have had intermittent ataxia as the initial manifestation. This case report describes a 13-year-old boy with a longstanding history of intermittent ataxia who was diagnosed as having GLUT1 deficiency syndrome after the onset of seizures at age 11 years. This case highlights the importance of a carefully organized lumbar puncture in the investigation and management of any child with neurodevelopmental delay and intermittent ataxia with or without seizures.

Postictal psychosis in a child.

Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepticus who developed psychotic symptoms. Diagnosis of postictal psychosis was made after correlating clinical symptoms with video-electroencephalographic monitoring. The clinical course of this illness is profiled, and the literature reviewed.

Unilateral amiodarone keratopathy.

Vortex keratopathy is characterized by bilateral symmetrical superficial corneal deposits in a vortex pattern. It is the most common ocular finding among patients being treated with amiodarone. An unusual case of unilateral amiodarone vortex keratopathy in an elderly woman with corneal dysplasia in the second eye is presented. The pathophysiology of amiodarone keratopathy is explored, and a cause for the unilateral keratopathy in this patient proposed.

Goldenhar syndrome: a case from Papua New Guinea.

Goldenhar syndrome is well known for its classical triad of epibulbar dermoids or lipodermoids, auricular appendages and pretragal fistulas. The syndrome was later included under the broader classification of oculoauriculovertebral spectrum to cover a wide range of associated anomalies. Here, a case is presented of Goldenhar syndrome in a child from Papua New Guinea. The patient had large epibulbar lipodermoids requiring surgical debulking primarily for mechanical lagophthalmos and secondarily for cosmesis. Further multidisciplinary effort is required to manage her systemic manifestations of the syndrome.