Abnormal Neuroimaging Findings Research Articles

Neonatal seizures during extra corporeal membrane oxygenation support.

To evaluate EEG monitoring during neonatal ECMO and to identify any correlations between seizure detection to abnormal neuroimaging.Eight-year, service evaluation of neonates who received at least one continuous EEG (cEEG) whilst on ECMO at Great Ormond Street Hospital. Pearson's chi-square test and multivariate logistic regression analysis were used to assess clinical and EEG variables association with seizures and neuroimaging findings.Fifty-seven neonates were studied; 57 cEEG recordings were reviewed. The incidence of seizures was 33% (19/57); of these 74% (14/19) were electrographic-only. The incidence of status epilepticus was 42%, (8/19 with 6 neonates having electrographic-only status and 2 electro-clinical status. Seizures were detected within an hour of recording in 84%, (16/19). The overall mortality rate was 39% (22/57). Seizure detection was strongly associated with female gender (OR 4.8, 95% CI: 1.1-20.4, p = 0.03), abnormal EEG background activity (OR 2.8, 95% CI: 1.1-7.4, p = 0.03) and abnormal EEG focal features (OR 23.6, 95% CI: 5.4-103.9, p = 0.001). There was a strong association between the presence of seizures and abnormal neuroimaging findings (OR 10.9, 95% CI: 2.8-41.9, p = 0.001). Neonates were highly likely to have abnormal neuroimaging findings in the presence of severely abnormal background EEG (OR 9.5, 95% CI 1.7-52.02, p = 0.01) and focal EEG abnormalities (OR 6.35, 95% CI 1.97-20.5, p = 0.002)Conclusion: The study highlights the importance of cEEG in neonates undergoing ECMO. An association between seizure detection and abnormal neuroimaging findings was described. What is Known: • Patients on ECMO are at a higher risk of seiures. • Continuous EEG monitoring is recommended by the ACNS for high risk and ECMO patients. What is New: • In this cohort, neonates with sezirues were 11 times more likely of having abnromal neuroimaging findings. • Neonates with burst suppressed or suppressed EEG background were 9.5 times more likely to have abnormal neuroimaging findings. What does this study add? • This study reports a 33% incidence of neonatal seizures during ECMO. • Neonates with seizures were 11 times more likely to have an abnormal brain scan. • The study captures the real-time approach of EEG monitoring. • Recommended cEEG monitoring should last at least 24h for ECMO patients. • This is the first study to assess this in neonates only.

Neuroimaging findings in children with COVID-19 infection: a systematic review and meta-analysis

The COVID-19 pandemic has impacted individuals differently, and there's been a growing body of evidence pointing to neurological complications caused by the virus. However, our understanding of the range of neurological issues linked to SARS-CoV-2 infection in children is limited. This systematic review and meta-analysis aimed to assess the abnormal neuroimaging findings in pediatric COVID-19 patients, shedding light on this crucial aspect of the disease's impact on children. We conducted an extensive search in the PubMed, Medline, and ScienceDirect databases for observational studies reporting neuroimaging findings of the brain and spinal cord in children with COVID-19 between December 1, 2019, and October 30, 2021. Grey literature sources, including medRxiv and Google Scholar, were also explored. Pooled proportions of abnormal neuroimaging findings, categorized into neurovascular findings, ADEM-like lesions, encephalitic pattern, myelitis, transient splenial lesions, and other anomalies, were calculated using a random-effects model. Between-study heterogeneity was assessed using the χ2 statistic for pooled proportions and the inconsistency index I2. The Quality of the studies was evaluated using the NIH Quality Assessment Tool and the adapted Newcastle–Ottawa Scale. Our search yielded 9,605 articles, with 96 studies (involving 327 pediatric patients) included in the qualitative analysis. Of these, five reports (encompassing 111 patients) underwent quantitative analysis. The pooled proportion of pediatric COVID-19 patients with neurological symptoms and exhibiting abnormal neuroimaging findings was 43.74%. These findings were further categorized into neurovascular findings (8.22%), ADEM-like lesions (7.69%), encephalitic pattern (13.95%), myelitis (4.60%), transient splenial lesions (16.26%), and other abnormalities (12.03%). Insignificant between-study heterogeneity was observed in all categories, and our analysis did not reveal significant publication bias. In conclusion, a substantial proportion of pediatric COVID-19 patients with neurological symptoms have abnormal neuroimaging findings, underscoring the need for vigilant monitoring of neurological complications in this vulnerable population. Standardized reporting and long-term follow-up studies are essential to fully understand the implications of these findings. Collaborative research efforts will deepen our understanding of COVID-19's neurological dimensions in children and enhance clinical care for this population.

Diabetic Striatopathy in Pediatric Patient: A Case Report on a Reversible and Acquired Movement Disorder

Purpose: To present a rare case of diabetic striatopathy (DS) in a child with type 1 diabetes mellitus (DM) with reversible unilateral hemichorea-hemiballismus. Case Report: We report a case of an adolescent girl with uncontrolled type 1 DM who presented with hemichorea-hemiballismus of the right extremities. Cranial magnetic resonance imaging (MRI) showed hyperintense signals on bilateral basal ganglia. There was improvement in hemichorea- hemiballismus as blood glucose levels normalized. Conclusion: A high index of suspicion is required to make a diagnosis of DS in children presenting with abnormal movement disorder and characteristic neuroimaging findings in a background of uncontrolled DM.

Epilepsy Frequency and Risk Factors Three Years After Neonatal Seizures

BackgroundNeonatal seizures, one of the main risk factors for the development of epilepsy, remain a clinical concern. In children with neonatal seizures, early recognition of risk factors is important for the early diagnosis and appropriate treatment of epilepsy and for improving prognosis. In this study, we aimed to determine the frequency of and the risk factors for the development of epilepsy in patients with neonatal seizures. MethodsThe hospital files of 228 children who experienced seizures in the neonatal period were reviewed. The frequency of epilepsy and risk factors for the development of epilepsy were determined at age 36 months. ResultsEpilepsy was diagnosed in 40.8% of the cases. Univariate analysis revealed family history of epilepsy, parental consanguinity, abnormal neurological examination findings, microcephaly, unresponsiveness to antiepileptic drugs or antiseizure medication, use of more than one antiepileptic drugs to antiseizure medication at discharge, status epilepticus, electroencephalography abnormalities, abnormal neuroimaging findings, invasive ventilation requirement, myoclonic seizures, central nervous system malformation, and congenital metabolic disease as risk factors for the development of epilepsy. Of these, a family history of epilepsy, abnormal neurological examination findings at discharge, and use of at least two antiepileptic drugs to antiseizure medication at discharge were found as independent risk factors in multivariate analysis. ConclusionsNeonatal seizures appear to be associated with epilepsy in more than one-third of the patients. Of the newborns with seizures, those with a family history of epilepsy, abnormal neurological examination findings at discharge, and those using at least two antiepileptic drugs to antiseizure medication at discharge should be monitored more carefully for the development of epilepsy.

Increased rate of significant findings on brain MRI during the early stage of the COVID-19 pandemic.

To assess the effect of the COVID-19 pandemic on the proportion of abnormal paediatric neuroimaging findings as a surrogate marker for potential underutilisation. Consecutive paediatric brain MRIs performed between March 27th and June 19th 2019 (Tbaseline) and March 23rd and June 1st 2020 (Tpandemic) were reviewed and classified according to presence or absence and type of imaging abnormality, and graded regarding severity on a 5-point Likert scale, where grade 4 was defined as abnormal finding requiring non-urgent intervention and grade 5 was defined as acute illness prompting urgent medical intervention. Non-parametric statistical testing was used to assess for significant differences between Tpandemic vs. Tbaseline. Fewer paediatric MRI brains were performed during Tpandemic compared to Tbaseline (12.2 vs 14.7 examinations/day). No significant difference was found between the two time periods regarding sex and age (Tbaseline: 557 females (44.63%), 7.95 ± 5.49years, Tpandemic: 385 females (44.61%), 7.64 ± 6.11years; p = 1 and p = .079, respectively). MRI brain examinations during Tpandemic had a higher likelihood of being abnormal, 41.25% vs. 25.32% (p<.0001). Vascular abnormalities were more frequent during Tpandemic (11.01% vs 8.01%, p = .02), congenital malformations were less common (8.34% vs 12.34%, p = .004). Severity of MRI brain examinations was significantly different when comparing group 4 and group 5 individually and combined between Tbaseline and Tpandemic (p = .0018, p < .0001, and p <.0001, respectively). The rate of abnormality and severity found on paediatric brain MRI was significantly higher during the early phase of the pandemic, likely due to underutilisation.

Neuroimaging Findings in Acquired Esotropia Patients at Siriraj Hospital from 2009–2020

Objective: To analyze the neuroimaging findings in patients with acquired esotropia at Siriraj Hospital from 2009 to 2020. Materials and Methods: A retrospective review of the medical records of all patients aged above 6 months old who presented with acquired esotropia was done. All the patients had an angle of deviation 10 prism diopters (PD), refraction &lt; +3.0 diopters (D), and had neuroimaging performed. The patients with restrictive myopathy and extraocular neurological abnormalities were excluded from the study. Results: In total, 177 subjects aged between 8 months old to 81 years old (mean age 32.35 ± 24.40 years old) were included in the study. The patients’ demographic data, ocular findings, and neuroimaging findings were collected. The mean angle of deviation near and at distance were 26.88 ± 18.90 PD and 29.81 ± 17.25 PD, respectively. Of the 177 cases, 113 cases (63.8%) had no neuroimaging abnormalities, while 64 cases (36.2%) had abnormal neuroimaging findings. In those 64 cases with abnormal findings, there were 16 intracranial tumors, 6 inflammations, 4 vascular lesions, 7 degenerations, and 31 other lesions. Sixth nerve palsy was found to be significantly different between the positive and negative neuroimaging group from both the uni- and multivariate analysis. Conclusion: Although more than half of acquired esotropia patients had no abnormalities in neuroimaging, but 14.7% of those with abnormal neuroimaging findings had underlying serious conditions, which consisted of intracranial tumors, inflammation, and vascular lesions. Special attention should be concentrated to patients with sixth nerve palsy as it was the significant factor found to be associated with positive neuroimaging findings in acquired esotropia.

First-Time Seizure Patients have High Rate of Abnormalities on Emergency Department Performed Brain Computed Tomography: A Prospective Study

BackgroundFirst-time seizures comprise 15% to 35% of all seizure-related complaints in the emergency department (ED). Emergent neuroimaging of first-time seizure patients is recommended by both the American Academy of Neurology and American College of Emergency Physicians. However, most of these studies are over 10 years old and included both adults and children. ObjectivesThe goal of this investigation is to determine the rate of abnormal neuroimaging in adults with first-time seizures presenting to the ED during the current era. MethodsThis was a prospective observational study of patients presenting to three urban EDs with a chief complaint of seizure over 18 months. Abnormal neuroimaging findings were defined a priori and were dichotomized into acute and subacute/chronic categories. ResultsOf the 2505 patients who presented with a seizure, 242 patients (9.7%) presented with a first-time seizure. The most common etiologies for first-time seizures were drug intoxication and drug withdrawal. Of those 242 patients, 29 (11.9%) patients had abnormal findings on brain computed tomography (CT). Brain CT demonstrated an acute finding in 13 (45%) patients and a subacute/chronic finding in 16 (55%) patients. The most common abnormality overall and the most common chronic finding was ischemic changes. The most common acute findings were traumatic intracranial hemorrhage and intracranial metastases. ConclusionsThis study demonstrated that 11.9% of first-time seizure patients presenting to the ED had abnormal findings on neuroimaging. Our findings support current recommendations to obtain emergent neuroimaging for adult patients with first-time seizures.

Intrauterine Blood Transfusion for Parvo B19-Induced Fetal Anemia: Neuroimaging Findings and Long-Term Neurological Outcomes

Introduction: We aimed to evaluate the neuroimaging findings and long-term neurodevelopmental outcomes of fetuses and children following intrauterine blood transfusion (IUT) for parvo B19 infection-induced anemia compared to those with RBC alloimmunization. Methods: We conducted a retrospective cohort study including women who underwent an IUT due to fetal anemia between 2006 and 2019 in a tertiary, university-affiliated medical center. The cohort was divided into two groups: a study group – fetuses affected by congenital parvo B19 infection; and a control group – fetuses affected by RBC alloimmunization. Retrospective data such as antenatal sonographic evaluations, fetal brain MRI results, and short-term fetal and neonatal outcomes were collected. All children underwent a neurodevelopmental evaluation after birth using a Vineland questionnaire. Primary outcome was defined as the presence or absence of neurodevelopmental delay. Secondary outcome was defined as the presence of abnormal fetal neuroimaging findings such as cerebellar hypoplasia, polymicrogyria, intracranial hemorrhage, or severe ventriculomegaly. Results: Overall, 71 fetuses requiring at least one IUT were included in the study. Of these, 18 were affected by parvo B19 infection and 53 by RBC alloimmunization with various associated antibodies. Fetuses in the parvo B19 group presented at an earlier gestational age (22.91 ± 3.36 weeks vs. 27.37 ± 4.67 weeks, p = 0.002) and were more affected by hydrops (93.33% vs. 16.98%, p < 0.001). Three fetuses out of the 18 (16.67%) fetuses in the parvo B19 group died in utero following the IUT. Abnormal neuroimaging findings were detected in 4/15 (26.7%) of the parvo B19 survivors versus 2/53 (3.8%) of fetuses affected by RBC alloimmunization (p = 0.005). There was no difference in long-term neurodevelopmental delay rates between the children in the study and control groups, as assessed at the average age of 3.65 and 6.53 years, accordingly. Conclusion: Fetal anemia due to parvo B19, treated with IUT, might be associated with increased rates of abnormal neurosonographic findings. The correlation between those findings and long-term adverse neurodevelopmental outcomes requires further investigation.

Prechtl’s General Movements performed at writhing age may help target MRI use in the NICU (P9-9.012)

<h3>Objective:</h3> We aimed to determine if Prechtl’s general movement assessment (GMA) could help target the use of magnetic resonance imaging (MRI) in the neonatal intensive care unit (NICU) to detect infants with neuroimaging abnormalities not detected by cranial ultrasound (CUS) alone. <h3>Background:</h3> Prechtl’s GMA is a bedside evaluation performed to identify infants at high-risk for neurological and motor disorders such as cerebral palsy (CP). Cramped synchronized (CS) GMA at writhing age has been associated with poor neuromotor outcomes. However, no clinical practice guideline exists to recommend routine use of term-equivalent MRI in infants with CS GMAs. <h3>Design/Methods:</h3> We retrospectively reviewed neuroimaging reports from pediatric neuroradiologists of all infants who had CS GMA between 36 and 44 weeks post-menstrual age at two level III and three level IV NICUs. All three sites used standard protocols for preterm neuroimaging with at least one CUS in the first week after birth and another near 30 weeks corrected gestational age. If an MRI was obtained (due to clinical suspicion for intracranial abnormality, abnormal CUS findings, or CS GMA) the reason for performing the MRI was recorded. <h3>Results:</h3> 144 infants had CS GMA, and of these, only 19 did not receive neuroimaging. Initial neuroimaging demonstrated abnormal (mild and severe) findings in 64.5% and clinically significant in 45.6%. When MRI was performed secondarily, agreement between the two types of imaging occurred most of the time. A higher level of insult was present in 20.7% of those receiving a secondary MRI. The frequency of clinically significant abnormal findings on final determination was 48.8%. In 14 cases, secondary MRI was performed in response to GMA CS pattern only; in this case, MRI was abnormal in 11 (76.8%) cases. <h3>Conclusions:</h3> These results suggest that infants with CS GMA at writhing age may represent a population with a high-likelihood of clinically significant abnormal neuroimaging findings. <b>Disclosure:</b> Dr. Chirigos has nothing to disclose. Dr. Burton has nothing to disclose. Dr. Maitre has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Thrive Neuromedical. Dr. Maitre has stock in Thrive Neuromedical. Dr. Ostrander has nothing to disclose.

Neuroimaging Findings in Vitamin B12-Deficient Infants With Neurologic Features.

Background:Vitamin B12 deficiency causes serious neurologic problems among infants. However, its neuroradiologic correlate is still largely obscure. Methodology: This prospective study was conducted on patients aged 6 months to 2 years. All children with proven vitamin B12 deficiency were planned to undergo magnetic resonance imaging (MRI) and magnetic resonance spectroscopy of the brain. Results: A total of 35 patients (63% female) were enrolled. Twenty-six (74%) patients had significant findings on brain MRI scan, commonest of which were thinning of corpus callosum and prominence of extra-axial spaces in 28.6% children, cerebral atrophy in 17%, and diffuse symmetrical hyperintensity of white matter in 5.7% patients. Using logistic regression, it was found that odds of abnormal neuroimaging findings were higher in children below 12 months, in females, and in patients with developmental regression, but none of them were statistically significant. Conclusion: Most of the infants with vitamin B12 deficiency have abnormal neuroimaging findings.

Clinically important intracranial abnormalities in children presenting with first focal seizure.

Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED). This study was conducted retrospectively in the PED at a University Children`s Hospital setting. The study population consisted of patients aged between 30 days and 18 years with first focal seizure and who had emergent neuroimaging at the PED between the years 2001 and 2012. There were 65 eligible patients meeting the study criteria. Clinically important intracranial abnormalities requiring emergent neurosurgical or medical intervention were detected in 18 patients (27.7%) at the PED. Four patients (6.1%) underwent emergent surgical procedures. Seizure recurrence and the need for acute seizure treatment in the PED were significantly associated with clinically important intracranial abnormalities. Neuroimaging study yielding of 27.7% shows that first focal seizure must be evaluated meticulously. From the emergency department`s point of view; we suggest that first focal seizures in children should be evaluated with emergent neuroimaging, if possible with magnetic resonance imaging. Especially patients with recurrent seizures at presentation requires more careful evaluation.

MRI Abnormalities of the Brain After Complex Febrile Seizures in Children.

Background Though simple febrile seizures do not cause significant and lasting neurological deficits, complex febrile seizures (CFS) can result in neurologic sequelae.Because CFS causes cortical focal injuries and other brain lesions, itneeds to be evaluated. Objective The objective of this study was to evaluate the MRI brain changes in CFS, the incidence of seizures in children aged six months to five years, and their severity in relation to MRI findings of the brain. Methods In this observational study, 36 children aged six months to five years, having fever with seizure, and fulfilling the criteria of CFS were enrolled within 48 hours of the episode. Detailed clinical and neurological examinations were performed with MRI scans to find out the probable CNS lesions of CFS. Two radiologists separately evaluated all MRI brains. Results MRI lesions of the brain were found in11 (30.56%) CFS patients. Generalized tonic-clonic seizures (GTCS) (n=31, 86.11%) were the most common type of seizure among CFS cases. Cortical focal hyperintensity (CFH) (42.1%) was the most common MRI presentation. Positive MRI findings were significantly associated with focal convulsions (n=5, 100%) as compared to GTCS cases (n=6, 19%) (p=0.001). Conclusions CFH is the most common abnormality in the MRI brain amongCFS cases. CFS patients with focal seizures or prolonged seizures in 24 hours have higher abnormal neuroimaging findings. MRI should be considered a preferred investigatory tool for detecting CNS pathology in CFS cases. Follow-up studies are needed to determine the long-term outcomes of CNS lesions in children with CFS.

A Prospective Hospital-Based Study on the Clinico-Etiological Profile of the First Episode of a Seizure in Children.

Background This study aims to examine the clinico-etiological profile of children with the first episode of a seizureand categorize seizure types based on age groups in a tertiary care hospital. Methodology This was aprospective observational studyconducted at a tertiary care medical institute in India over two years. Children (one month to 12 years of age) with the first episode of a seizure were included in the study population. The data collected included demographic profile, history, examination, biochemical profile, electroencephalogram (EEG), and neuroimaging.Children were categorized as generalized-onset, focal-onset, and unknown-onset seizures based on the International League Against Epilepsy2017 seizureclassification. Children were also classified according to specific etiologies such as structural, metabolic, or other specific causes. All the children were followed up at the hospital's outpatient clinic or through a telephonic interview. Results A total of 220 children were examined in this study. Among them, 64% were male and 36% were female, with a male-to-female ratio of 1.75:1. Among the 220 children, 21.8% had a family history of seizure. The most common type of seizures were generalized-onset seizures (n = 110, 50%), followed by focal-onset seizures (n = 96, 43.6%). Overall, 9% of children presented with status epilepticus as their first-episode seizure. An abnormal EEG was recorded for 122 (76%) children. While 60% of children had abnormal neuroimaging findings, the remaining had normal neuroimaging. Febrile seizures (n = 92, 41.9%) were the most common cause of the first episode of a seizure. Most of the febrile seizures occurred between the ageof one and four (n = 60, 65.2%). Epilepsy syndromes were the second most common etiology, followed by central nervous system (CNS) infections, structural brain abnormalities, metabolic disorders, vascular lesions, toxins, and immune-mediated causes, in that order. In 14 (6.36%) children, the etiology was unknown at the time of the study. Conclusions First-episode seizures in children cause physical, mental, and financial stress on the parents. The collection of detailed history, examinations, and appropriate investigations can help identifythe etiology of seizures. It was possible to determine the etiology of the first episode of a seizure in the majority of the patients. Generalized-onset seizures were the most common. Febrile seizures, epilepsy syndrome, CNS infections, vascular lesions, and metabolic disorders were the main etiological factors, in that order.

Evidence-Based Screening to Optimize the Yield of Positive Ophthalmologic Examinations in Children Evaluated for Suspected Child Abuse.

To determine nonocular findings associated with significant retinal hemorrhage on dilated fundus examination in cases of suspected child abuse. This was a retrospective chart review from May 2014 to August 2021 at a level-1 trauma center. Two hundred seventy-four patients met the following inclusion criteria: (1) children 36 months and younger; (2) concern for child abuse; and (3) had an ophthalmology consultation. Through univariate and multivariate logistic regression, the study produced a screening algorithm for ophthalmic work-up in child abuse. One or more abnormal neuroimaging findings had a statistically significant association with retinal hemorrhages and produced the strongest association with a univariate odds ratio of 170 (confidence interval: 10.245 to > 999.999). The multivariate model (P < .0001 with a c-statistic of 0.980) proposes using the following variables for predicting retinal hemorrhage on examination: abnormal neuroimaging, Glasgow Coma Scale score less than 15, altered mental status on examination, seizure activity, vomiting, bruising, scalp hematoma/swelling, and skull fractures. This study elucidates clinical and imaging factors that correlate to retinal findings, validating previously studied variables and introducing new variables to be considered. The authors propose an evidence-based screening algorithm to increase the yield of positive dilated examinations and decrease the burden of potentially unnecessary child abuse ophthalmologic examinations. [J Pediatr Ophthalmol Strabismus. 2022;59(5):310-319.].

Magnetic resonance neuroimaging after laser for twin-twin transfusion syndrome with single fetal demise

Neurologic injury in the surviving twin is a risk after single fetal demise in a monochorionic pregnancy. This study aimed to describe fetal magnetic resonance neuroimaging findings in pregnancies complicated by single fetal demise after laser photocoagulation for twin-twin transfusion syndrome. This was a single-center retrospective analysis of a cohort of prospectively collected patients in a monochorionic twin registry who had fetoscopic laser photocoagulation for twin-twin transfusion syndrome with single fetal demise at follow-up. Magnetic resonance neuroimaging was offered 3 to 4 weeks after the demise to assess for potential neurologic sequelae. Magnetic resonance images were interpretedby 2 board-certified neuroradiologists and classified as normal, mildly abnormal, or severely abnormal. The groups were compared on the basis of recipient vs donor demise using the Fisher exact test and Mann-Whitney U test. Multivariate logistic regression was performed to determine risk factors for abnormal magnetic resonance neuroimaging. In 378 laser photocoagulation procedures, 64 cases (16.9%) of single demise were identified (36 in the donor group and 28 in the recipient group). Of note, 6 patients had rupture of membranes with nonviable delivery (3 from each group). Moreover, 40 patients (69%) underwent magnetic resonance imaging. Of those patients, 12 (30%) had abnormal findings: 10 (83%) were associated with mild changes, and 2 (17%) were associated with severe findings. Abnormal magnetic resonance neuroimaging was seen in 3 of 22 patients (14%) after donor demise and 9 of 18 patients (50%) after recipient demise (P=.02). Logistic regression revealed that recipient vs donor demise was an independent risk factor for abnormal magnetic resonance imaging. In addition, 2 pregnancies with severe magnetic resonance imaging findings had complicated courses. Mildly abnormal magnetic resonance neuroimaging findings were common after laser photocoagulation for twin-twin transfusion syndrome complicated by single fetal demise and were more common in cases of recipient demise than donor demise. Severe magnetic resonance neuroimaging findings in this series were limited to patients with complicated peri- or postoperative courses.

Trends in Etiologies, Demographics, and Neuroimaging in New-Onset Adult Strabismus at an Ophthalmic Emergency Department.

To evaluate new-onset strabismus in adults presenting to an ophthalmic emergency department, and to identify which patients require neuroimaging. This was a retrospective review of electronic medical records of patients 18 years and older who presented to an ophthalmic emergency department between January 1, 2019 and December 31, 2020 with new-onset strabismus. Data regarding demographics, causes, neuroimaging, and resolution were recorded and analyzed. Of the 557 patients in the current study, 54.8% were men and the mean age was 57.3 ± 16.7 years (range: 18 to 92 years). Most patients (72.4%) presented with diplopia. Esotropia was the most common ocular misalignment (43.6%) and was more common in women than men (51.6% vs 37.0%, respectively) (P = .001). The most common diagnoses were cranial nerve palsies (66.8%) for both sexes and all age groups, with the most common etiology being microvascular (48.1%) for patients 50 years and older and idiopathic (20.1%) for patients between 18 and 49 years old. The incidence of cranial nerve palsies was significantly higher in older patients (P < .001). Neuroimaging was performed in 58% of patients (n = 323), of whom 37.2% (n = 120) had abnormal findings. The most common abnormal neuroimaging finding was mass for all age groups and sexes (19.2%). Patients with cranial nerve palsy and microvascular etiology had a significantly lower proportion of abnormal neuroimaging findings (P < .001). Most cases of new-onset strabismus in adults presenting to the emergency department were due to cranial nerve palsy, particularly in older patients. Despite high rates of neuroimaging, patients with cranial nerve palsy had mostly normal findings. The current study supports the belief that neuroimaging may be deferred in patients older than 50 years with micro-vascular risk factors. [J Pediatr Ophthalmol Strabismus. 2022;59(4):269-273.].

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.

Background and ObjectivesIsolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by PRRT2 variants and TMEM151A variants. Patients with proximal 16p11.2 microdeletion (16p11.2MD) (including PRRT2) often have neurodevelopmental phenotypes, whereas a few patients have PKD. Here, we aimed to identify 16p11.2MD in patients with PKD and describe the related phenotypes.MethodsWhole-exome sequencing and bioinformatics analysis of copy number variant (CNV) were performed in patients with PKD carrying neither PRRT2 nor TMEM151A variant. Quantitative PCR and low-coverage whole-genome sequencing verified the CNV.ResultsWe identified 9 sporadic patients with PKD and 16p11.2MD (∼535 kb), accounting for 9.6% (9/94) of our patients. Together with 9 previously reported patients with PKD and 16p11.2MD, we found that 16p11.2MD was de novo in 11 of 12 tested patients and inherited from a parent in the other patient. And 80% (12/15) of these patients had a mild language delay, 64.3% (9/14) had compromised learning ability, 42.9% (6/14) had a mild motor delay, and 50% (6/12) had abnormal neuroimaging findings. No severe autism disorders were observed.DiscussionMild developmental problems may be overlooked. A detailed inquiry of developmental history and CNV testing are necessary to distinguish patients with 16p11.2MD from isolated PKD.

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.

Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classified as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically affecting function of brain, eye, ear, and skin. Here, a first-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging findings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.

Predictors of Uncontrolled Seizure in Children Presenting in Tertiary Level Hospital in Nepal: A Prospective Study

Introduction: About one third of the children with seizure do not achieve complete seizure control. We aimed to find the predictive factors for uncontrolled seizure in children. Methods: This prospective study was conducted from October 2018 to September 2020 at Tribhuvan University Teaching Hospital, Kathmandu, Nepal. Children aged 12 months to 16 years with seizure and who were under regular follow up visits for at least once in past 3 months time were included and followed up for one year. Uncontrolled seizure was defined when seizure frequency was 2 or more in a year during the study period. Various factors were analyzed and when they were significantly different between the groups on bivariate analysis using the Chi square test, they were further analyzed with binary logistic regression model to find out the true predictors. Results: Total of 110 children were enrolled. Forty children (36.4%) had their seizure onset before one year of age. About one third of patient had family history of seizure. The most common type of seizure was generalized type (60%). Of the total, 56% had uncontrolled seizure. Three true predictors of uncontrolled seizure were found. They were (i) age of onset before 12 months of age (OR 2.94; 95% C.I 1.32-6.55), (ii) abnormal findings in neuroimaging (OR 26.5; 95% C.I 8.72-80.07) and (iii) frequency of seizure (OR 40.9; 95% CI 9.05-184.9). Conclusion: Seizure onset in infancy, abnormal neuroimaging findings and frequent seizure are predictors for uncontrolled seizure in children. Thus, we suggest that these factors be considered while managing the children with seizure.

Neurofilament light in plasma is a potential biomarker of central nervous system involvement in systemic lupus erythematosus.

Neuropsychiatric manifestations (NP) are common in systemic lupus erythematosus (SLE). However, the pathophysiological mechanisms are not completely understood. Neurofilament light protein (NfL) is part of the neuronal cytoskeleton. Increased NfL concentrations, reflecting neurodegeneration, is observed in cerebrospinal fluid (CSF) in several neurodegenerative and neuroinflammatory conditions. We aimed to explore if plasma NfL could serve as a biomarker for central nervous system (CNS) involvement in SLE. Sixty-seven patients with SLE underwent neurological examination; 52 underwent lumbar puncture, while 62 underwent cerebral magnetic resonance imaging (MRI). We measured selected auto-antibodies and other laboratory variables postulated to have roles in NP pathophysiology in the blood and/or CSF. We used SPM12 software for MRI voxel-based morphometry. Age-adjusted linear regression analyses revealed increased plasma NfL concentrations with increasing creatinine (β = 0.01, p < 0.001) and Q-albumin (β = 0.07, p = 0.008). We observed higher plasma NfL concentrations in patients with a history of seizures (β = 0.57, p = 0.014), impaired motor function (β = 0.36, p = 0.008), increasing disease activity (β = 0.04, p = 0.008), and organ damage (β = 0.10, p = 0.002). Voxel-based morphometry suggested an association between increasing plasma NfL concentrations and the loss of cerebral white matter in the corpus callosum and hippocampal gray matter. Increased plasma NfL concentrations were associated with some abnormal neurological, cognitive, and neuroimaging findings. However, plasma NfL was also influenced by other factors, such as damage accrual, creatinine, and Q-albumin, thereby obscuring the interpretation of how plasma NfL reflects CNS involvement. Taken together, NfL in CSF seems a better marker of neuronal injury than plasma NfL in patients with SLE.