Correlation between early computed tomography findings and neurological outcome in pediatric traumatic brain injury patients.

Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in children. Head computed tomography (CT) is frequently utilized for evaluating trauma-related characteristics, selecting treatment options, and monitoring complications in the early stages. This study assessed the relationship between cranial CT findings and early and late neurological outcomes in pediatric TBI patients admitted to the pediatric intensive care unit (PICU). The study included children aged 1 month to 18 years who were admitted to the PICU due to TBI between 2014 and 2020. Sociodemographic data, clinical characteristics, and cranial CT findings were analyzed. Patients were categorized based on their Glasgow Coma Scale (GCS) score. Of the 129 patients, 83 (64%) were male, and 46 (36%) were female, with a mean age of 6.8 years. Falls (n = 51, 39.5%) and in-vehicle traffic accidents (n = 35, 27.1%) were the most common trauma types observed. Normal brain imaging findings were found in 62.7% of the patients, while 37.3% exhibited intracranial pathology. Hemorrhage was the most frequent CT finding. Severe TBI (n = 26, p = 0.032) and mortality (n = 9, p = 0.017) were more prevalent in traffic accidents. The overall mortality rate in the study population was 10.1%. In children with TBI, cranial CT imaging serves as an essential initial method for patients with neurological manifestations. Particularly, a GCS score of ≤ 8, multiple hemorrhages, diffuse cerebral edema, and intraventricular bleeding are associated with sequelae and mortality.

Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

BACKGROUND: One of the most common causes of carpal tunnel syndrome (CTS) in childhood is mucopolysaccharidosis (MPS). While ultrasonography (US) can aid in the diagnosis of CTS in adult patients, there is limited experience of this in the pediatric group. We aimed to investigate the results of wrist ultrasonography, which may be a candidate alternative to electrophysiological examination. METHODS: The participants were evaluated for symptoms, physical examination findings, electrophysiological tests and grayscale US. CTS was diagnosed in accordance with the American Academy of Orthopedic Surgeons Management of Carpal Tunnel Syndrome: Evidence-Based Clinical Practice Guideline. RESULTS: Included in the study were 27 MPS patients aged 4.5-32 years and 30 healthy control subjects aged 4.3-26 years. Of the 54 wrists in the MPS group, 30 were diagnosed with CTS. The median cross-sectional area (CSA) at the proximal carpal tunnel, the CSA at the forearm, and the wrist-forearm ratio (WFR) were higher in the wrists of the MPS with CTS group than in those without CTS and the healthy control subjects. The WFR cutoff of ≥1.35, 56.6% (95% CI: 437.4-74.5) sensitivity, and 89.8% (95% CI: 81.0-95.5) specificity were consistent with a diagnosis of CTS (receiver operating characteristics analysis, area under the curve = 0.775, 95% CI: 0.673-0.877). CONCLUSION: Although the US provides results with unsatisfactory specificity and sensitivity, it is a candidate for further investigation for the diagnosis of CTS because it is an innovative, noninvasive, and more accessible method. WFR value may produce more meaningful results than wrist or forearm nerve area measurements.

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

OBJECTIVE: Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies. METHODS: This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years. RESULTS: Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months. Comprehensive clinical evaluation and neuroimaging revealed structural-acquired causes as the most common etiology. Notably, inborn errors of metabolism were identified in 5.4 % of cases, with six distinct diagnoses including nonketotic hyperglycinemia, pyridoxine-dependent epilepsy, primary coenzyme Q10 deficiency 7, congenital disorder of glycosylation type IIM, 6-pyruvoyl tetrahydrobiopterin synthase deficiency, and argininosuccinate lyase deficiency. The prevalence of inborn errors of metabolism in this cohort was consistent with global variations reported in the literature. Genetic testing, including karyotype analysis and whole exome sequencing, was performed in a subset of cases with no clear diagnosis, revealing abnormalities in approximately 50 % of cases. Adrenocorticotropic hormone emerged as the most frequently prescribed antiseizure medication. CONCLUSION: This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity.

Clinical and Imaging Clues of Arteriopathy-Related Pediatric Arterial Ischemic Stroke: A Single Center Experience.

Background and Purpose: Arteriopathy is a common etiology for childhood arterial ischemic stroke (AIS). In this study, we aimed to address clinical, demographic, and neuroimaging characteristics and the reversibility of vasculopathy in patients with childhood stroke due to arteriopathy by classifying them according to Childhood AIS Standardized Classification and Diagnostic Evaluation (CASCADE) criteria. Methods: We included 15 patients with AIS due to arteriopathy presented between 2013 and 2018. All patients were diagnosed and followed up using magnetic resonance imaging (MRI) studies. All acute AIS patients were classified by acute CASCADE criteria (1-4). Moreover, each group was categorized according to the chronic CASCADE criteria, including progressive, stable, reversible, and indeterminate courses. Results: In the study population, CASCADE 2 patients were the most common group, and basal ganglia involvement was the most common involvement in CASCADE 2 patients. Of CASCADE 2 patients, 71.4% received steroids, which was compatible with a favorable outcome. In the study, trauma was present in 33.3% of patients, 60% of which was related to CASCADE 4. In the control visit on month 24, there were neuromotor sequelae of 60%, including hemiparesis, facial paralysis, and decreased fine motor skills; furthermore, the recurrence rate was 20%. Conclusion: We strongly emphasize that arteriopathy should be kept in mind in school-age children presenting with hemiparesis and headache. Moyamoya disease must be considered in the differential diagnosis with anterior circulation involvement, while focal cerebral arteriopathy (FCA) in patients with basal ganglia involvement was detected on MRI and dissection in the patients with a history of head-neck injury. We think that steroids have positive influences on neurologic prognosis in patients with FCA.

Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.

Neuronal ceroid lipofuscinosis (CLN) 7 typically presents with motor and cognitive decline, seizures (myoclonus) and vision loss. Atypical manifestations such as, ataxia, Rett-like findings, microcephaly, personality disorders, extrapyramidal symptoms, stereotypical hand movements and autistic behaviors had been reported. A 7-year-old male patient referred with the diagnosis of sepsis and a medical history of afebrile seizure at the age of 3 years, and sleep problems and aggressive behavior at the age of 4 years. Dance-like movements were noted in his arms and legs. Laboratory tests identified elevated creatine kinase, and diffuse acanthocytes in a peripheral blood smear. A genetic analysis for chorea-acanthocytosis was conducted but no pathogenic variant was detected in the VPS13A gene. A homozygous deletion in the MFSD8 gene was detected with whole exome sequencing. Upon the initiation of treatment for the septic shock, the CK level regressed to normal value and the acanthocytes in the peripheral blood smear disappeared. Acanthocytosis and rhabdomyolysis were attributed to sepsis. This report suggest that CLN7 should be kept in mind in neurodegenerative findings with similar clinical findings and in the presence of choreo-athetotic movements.

Ocular and cerebral causes of visual impairment in young children and a new scoring system to evaluate visual function.

PURPOSE: Childhood blindness is important cause contributing to the burden of blindness. It is necessary to identify the most frequently observed diseases in different populations. We aimed to demonstrate clinical features of low vision children and to evaluate the factors affecting visual function by a new visual function scoring system. METHODS: Two hundred forty nine children between the age of 6 months and 3 years were included. Visual function was scored from 0 to 15 according to; response to threat, light, object, presence of fixation, duration of fixation, following of light and object in horizontal, vertical, oblique, and circular gazes, optokinetic nystagmus. Patients were classified according to neurological diagnosis and cranial magnetic resonance imaging findings. Correlation between visual function score and ocular and neurologic findings were evaluated. RESULTS: While 136 patients (54.6%) had cerebral visual impairment (CVI), 89 (35.7%) had ocular pathology, 24 patients (9.6%) had combined pathology. The most common ocular and cerebral pathologies were oculocutaneous albinism (23.9%) and hypoxic ischemic encephalopathy (HIE) (27.5%), respectively. Patients with CVI had lower visual function than ocular pathologies. Neurological structural disorders and HIE had worse visual function. Widespread involvement of brain had lower visual function score. Seizure negatively affected visual function. CONCLUSIONS: Cerebral causes were found in approximately half of infants and children with low vision who were referred to our center for visual habilitation. The visual function scoring system we developed in this study will provide an opportunity to be objective in the follow-up of babies and in evaluating the effectiveness of visual habilitation programs.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

A sydenham chorea attack associated with COVID-19 infection.

The coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 appeared in Wuhan, China in December 2019 and quickly spread around the world and is considered a global pandemic. This disease, which is pre-infected with respiratory and cardiovascular system symptoms, can also occur in many organ systems. Since the beginning of the pandemic, cases related to neurological involvement have been reported in the literature and studies coercing neurological findings and complications have been published. COVID-19 can cause wide spectrum of neurological phenotypes from severe to milder. To the best of our knowledge, our case is the first report describing the chorea in a patient associated with COVID-19. In this article, we aim to present a patient who was admitted with chorea on the 3rd day of the COVID-19 followed by Sydenham chorea, which had already improved. This report expands the phenotypic spectrum of COVID-19 and suggests that COVID-19 can be associated with or trigger chorea.

Levetiracetam monotherapy in children with epilepsy: Experience from a tertiary pediatric neurology center.

OBJECTIVES: Levetiracetam (LEV) is a second-generation antiepileptic drug with high efficacy and tolerability in children and adults with epilepsy. We aimed to retrospectively assess the long-term efficacy, tolerability, and safety of LEV monotherapy in children with epilepsy. METHODS: All patients who received LEV monotherapy at the Ankara University Children Hospital between January 2010 and June 2020 were evaluated. This retrospective pediatric cohort study determined the efficacy and safety of LEV monotherapy in 281 outpatients with epilepsy. RESULTS: There were 281 patients, 50.5% female, aged 5 months to 18 years with a mean age of 9 years. Of these, 48% of patients had idiopathic epilepsy, 40.6% had symptomatic epilepsy, and 11,4% had cryptogenic/genetic epilepsy. Primary generalized seizures occurred in 61.6% of patients, focal seizures in 19.6%, both generalized and focal seizures in 15,3%, focal to bilateral tonic-clonic seizures in 2.5%, and undefined type of seizure in 1.1%. A total of 22.8% patients had an accompanying extra neurological disease, mostly cardiological and hematological. The range of final daily dose was 10-71 mg/kg/day, with mean 29.5 mg/kg/day. Duration of therapy ranged from 7 days to 96 months, with median 12 months (IQR: 6-22). For the all cohort, a 6th month retention rate was 81%, a 12th month retention rate was 71.4%, and a 24th month retention rate was 61.8%. Eighty five percent of the patients had a seizure reduction of at least 50% and 55.9% of patients remained seizure-free for median 12 months treatment duration with LEV monotherapy. Improvement of electroencephalography (EEG) findings was found in 42% of patients on control EEGs. A total of 67 adverse events were documented in 45 (16%) patients. The most common adverse events were behavioral problems such as aggression (n:18) and irritability (n:17). The discontinuation rate due to adverse events was 2.5%, and due to inefficacy was 5.3%. CONCLUSION: The present study suggests that the high retention rates, high percentage of seizure reduction, the low discontinuation rate due to adverse events and inefficacy, and the relatively benign and transient profile of adverse events make LEV preferable as monotherapy in the pediatric population.