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<jats:p> The application of techniques based on in vivo magnetic resonance to the study of leukodystrophies is evaluated. Magnetic resonance imaging (MRI), the most important neuroimaging modality for patients with leukodystrophies, has proven invaluable for the detection of the extent and etiology of white-matter involvement, diagnosis, and monitoring of disease progression. Proton magnetic resonance spectroscopy, which can detect several brain metabolites, including those related to axonal function and myelination, can provide additional diagnostic and prognostic information and, in some cases, allows a rare insight into the biochemical pathology of leukodystrophies. The potential of other advanced magnetic resonance techniques, including diffusion tensor imaging, magnetization transfer contrast, and molecular imaging, is also discussed. In the future, anatomic and physiologic magnetic resonance techniques are expected to be integrated into a single examination that will provide a detailed characterization of white-matter diseases in children. (J Child Neurol 2004;19:559-570). </jats:p>

<jats:p> The ketogenic diet has traditionally been considered an anticonvulsant therapy of last resort, despite excellent efficacy and limited side effects. We hypothesized that the ketogenic diet would have similar results in patients with new-onset epilepsy. A retrospective study was conducted of patients started on the ketogenic diet since 1994. Thirteen of 460 (2.8%) patients were started on the ketogenic diet as early (zero or one prior anticonvulsant) therapy for seizures. Of those remaining on the diet, 60% (6 of 10) had a &gt; 90% seizure reduction at 6 months and 100% (6 of 6) had a &gt; 90% reduction at 12 months. Patients with infantile spasms were as likely to achieve &gt; 50% seizure reduction at 6 months as patients with other seizure types (75% vs 60%; P = .6). The ketogenic diet can be a valuable therapy before epilepsy becomes intractable. In the 13 patients reported, efficacy without side effects was achieved similarly to that with patients with intractable epilepsy. ( J Child Neurol 2005;20:31—34). </jats:p>

<jats:p> The emotional and behavioral problems associated with pediatric multiple sclerosis remain unclear. Participants with pediatric multiple sclerosis or clinically isolated syndrome (n = 140; ages 5-18 years) completed self- and parent ratings using the Behavioral Assessment System for Children, Second Edition, neurologic exam, the Fatigue Severity Scale, and neuropsychological assessment. Mean self- and parent-ratings on the Behavioral Assessment System for Children, Second Edition, were in the typical range across all scales. However, 33.1% indicated a clinically significant problem on a least 1 scale. Although the type of clinical problems varied across participants, attention problems, somatization, and anxiety were found to be most common. Disease features including duration, age of onset, neurologic disability, and fatigue did not distinguish those with and without clinical problems. However, cognitive functioning significantly predicted the presence of a clinical problem ( P = .02). Pediatric multiple sclerosis is associated with a range of nonspecific emotional and behavioral clinical problems, occurring more frequently in those patients with cognitive involvement. </jats:p>

<jats:p> Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis ( P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis ( P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis. </jats:p>

<jats:p> Pediatric tumefactive lesions remains challenging to clinicians in terms of diagnosis and treatment. The authors describe 11 children with biopsy-proven central nervous system tumefactive demyelination. The mean age of onset was 11 years. Clinical and radiological data coupled with biopsy aided in the diagnosis of tumefactive demyelination. Of the 6 cases in which oligoclonal band data were available, only 3 showed oligoclonal band in the cerebrospinal fluid. Due to poor recovery despite treatment with high-dose glucocorticosteroids, intravenous immunoglobulin, and/or plasmapheresis, 6 cases went on to receive cyclophosphamide with marked improvement. Long-term data were available on 9 cases. Eight of 9 cases were started on preventative multiple sclerosis therapy after initial presentation; 1 is pending discussion with family. Five of the 8 cases had clinical relapse during treatment. Seven cases met 2010 McDonald criteria for multiple sclerosis at follow-up, (1 developed secondary progressive multiple sclerosis), and 2 cases remained as clinically isolated syndrome on treatment. </jats:p>

<jats:sec><jats:title>Objective:</jats:title><jats:p> To characterize the risk of hemorrhagic transformation following cardioembolic stroke in childhood, and whether anticoagulation impacts that risk. </jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p> Ninety-five children (1 month-18 years) with cardioembolic arterial ischemic stroke between January 1, 2009, and December 31, 2019, at 2 institutions were identified for retrospective chart review. Neuroimaging was reviewed to assess for hemorrhagic transformation. </jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p> There were 11 cases of hemorrhagic transformation; 8 occurred within 2 days of stroke diagnosis. Risk of hemorrhagic transformation did not differ in patients with and without anticoagulation use (15% vs 9%, estimated risk difference 5%; CI –9%, 19%). Stroke size did not predict hemorrhagic transformation (OR 1.004, 95% CI 0.997, 1.010). Risk of hemorrhagic transformation was higher in strokes that occurred in the inpatient compared with the outpatient setting (16% vs 6%). </jats:p></jats:sec><jats:sec><jats:title>Conclusion:</jats:title><jats:p> Hemorrhagic transformation occurred in 11% of pediatric cardioembolic ischemic stroke, usually within 2 days of stroke diagnosis, and was not associated with anticoagulation or stroke size. </jats:p></jats:sec>

<jats:p> Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuroradiologists with expertise in CLN2 convened to discuss early electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings in CLN2 diagnosis. Of 18 CLN2 cases, 16 (88.9%) had background slowing and 16 (88.9%) had epileptiform discharges on initial EEG. Seven of 17 (41.2%) patients who received intermittent low-frequency photic stimulation had a photoparoxysmal response. Initial MRIs showed subtle cerebellar (n = 14, 77.8%) or cerebral (n = 9, 50.0%) atrophy, white matter abnormalities (n = 11, 61.1%), and basal ganglia T2 hypointensity (n = 6, 33.3%), which became more apparent on follow-up MRI. The recognition of even subtle cerebellar atrophy and white matter signal changes in children aged 2-5 years who present with language delay, new-onset seizures, and an EEG with epileptiform discharges and background slowing should prompt investigation for CLN2. Because these early signs are not unique to CLN2, genetic testing is essential early in the diagnostic journey. </jats:p>

<jats:p> We examined the association between the severity of acute concussion symptoms and time to return to school and to sports in adolescent student athletes. We hypothesized that there would be an association between the severity of acute symptoms experienced in the first 72 hours and functional recovery such that adolescents with the lowest burden of acute symptoms would have the fastest return to school and sports and those with the highest burden of symptoms would have the slowest return to school and sports. This injury surveillance cohort included 375 adolescent student athletes aged 14-19 years who sustained a sport-related concussion between 2014 and 2020. Athletic trainers documented time to return to school and to sports. A greater proportion of adolescents with the highest acute symptoms remained out of school at 3 (odds ratio [OR] = 2.5, 95% confidence interval [CI] 1.5-4.4), 5 (OR = 2.4, 95% CI 1.4-4.0), 7 (OR = 2.6, 95% CI 1.5-4.3), and 10 days (OR = 2.3, 95% CI 1.3-3.9) compared to those with the lowest acute symptoms. Similarly, a greater proportion of athletes with the highest acute symptoms remained out of sports at 7 (OR = 3.5, 95% CI 1.5-8.1), 10 (OR = 3.1, 95% CI 1.8-5.6), 14 (OR = 1.8, 95% CI 1.1-3.0), and 21 days (OR = 1.9, 95% CI 1.0-3.6) compared to those with the lowest acute symptoms. This study underscores the adverse effect of high acute symptom burden following concussion on return to school and to sports among adolescent student athletes. Conversely, student athletes with a low burden of acute symptoms have a faster return to school and to sports. </jats:p>

<jats:p> Identifying the etiology of childhood arterial ischemic stroke helps prevent stroke recurrence. In addition, stroke may herald a serious underlying condition requiring treatment, such as acquired heart disease, malignancy, or autoimmune disorder. Evidence-based guidelines exist for adults to identify and treat common risk factors for primary and secondary stroke, including hypertension, diabetes, elevated lipids, atrial fibrillation, and sleep apnea, which are rarely relevant in children. However, guidelines do not exist in pediatrics. Identifying the cause of childhood stroke may be straightforward or may require extensive clinical and neuroimaging expertise, serial evaluations, and reassessment based on the evolving clinical picture. Risk factors may be present but not necessarily causative, or not causative until a triggering event such as infection or anemia occurs. Herein, we describe strategies to determine stroke etiology, including challenges and potential pitfalls. </jats:p>

<jats:sec><jats:title>Background</jats:title><jats:p> Continuous spike wave in sleep (CSWS) is an electroencephalogram (EEG) pattern associated with developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This etiologically heterogeneous syndrome may occur because of genetic factors and congenital or acquired brain lesions. We studied the pattern of clinical presentation and underlying etiologies in patients with DEE-SWAS that respond to resective surgery. </jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p> We reviewed our clinical and research databases for patients who had resolution of CSWS following surgical resection of a focal lesion. </jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p> We identified 5 patients meeting inclusion criteria. In 3 of 5, an epileptogenic structural abnormality was not apparent on brain magnetic resonance imaging (MRI). In all 3 patients, focal cortical dysplasia was identified through intracranial EEG monitoring. </jats:p></jats:sec><jats:sec><jats:title>Significance</jats:title><jats:p> DEE-SWAS may be a secondary bilateral network epilepsy syndrome, which can be treated with resection of the inciting focal lesion. In patients with drug-resistant CSWS, clinicians should consider a complete epilepsy presurgical workup, including intracranial EEG monitoring. </jats:p></jats:sec>