Acute ataxia is a pediatric condition associated with a plethora of etiologies. This systematic review with meta-analysis was undertaken to provide a hierarchal approach to the differential diagnosis of acute ataxia in the pediatric population. Eleven studies, consisting of 1167 children, met inclusion criteria of 10 or more patients, multiple etiologies of ataxia, and diagnostic data including number of patients with each condition. Extracted data were summarized and expected values (EVs) and 95% credible intervals for each disease entity were estimated using a Bayesian methodology. Postinfectious cerebellitis (EV, 38.0%; 95% CredI, 35.3-40.8%), drug intoxication/poisoning (EV, 14.1%; 95% CredI, 12.1-16.1%), central nervous system infection or inflammation (EV, 8.1%; 95% CredI, 6.6-9.8%), neoplasm (EV 7.3%; 95% CredI, 5.9-8.8%), and peripheral neuropathies including Guillain-Barré syndrome (EV, 6.6%; 95% CredI, 5.3-8.1) occurred most commonly and accounted for 74.1% of cases.

AimOur study aims to explore the relationship between anxiety, depressive symptoms, and family functioning about quality of life in children diagnosed with neurofibromatosis type 1.MethodsA total of 51 participants, including 24 children in the neurofibromatosis type 1 group and 27 age- and gender-matched controls, aged between 8 and 18 years, were included. A pediatric neurologist confirmed each neurofibromatosis type 1 diagnosis. A semi-structured clinical interview (KSADS-PL) and psychometric evaluation were performed by a unique child psychiatrist. A sociodemographic form and psychometric scales assessing family functioning, quality of life, and children's anxiety and depressive symptoms were administered.ResultsAttention-deficit hyperactivity disorder and/or specific learning disorder were identified in 12 cases (50.0%). Parent-reported psychosocial subscores and total quality of life scores were significantly lower in the neurofibromatosis type 1 group compared with controls. Affective involvement subscores in family functioning were significantly higher in the neurofibromatosis type 1 group than in controls. The total quality of life scores reported by both children and parents, along with parent-reported psychosocial quality of life subscores, showed a moderate positive correlation with age at neurofibromatosis type 1 diagnosis. In contrast to the control group, problem-solving subscores in family functioning in the neurofibromatosis type 1 group showed a moderate positive correlation with depression scores and a moderate negative correlation with child-reported psychosocial quality of life subscores. Additionally, in the neurofibromatosis type 1 group, general family functioning exhibited a moderate positive correlation with total anxiety scores and a moderate negative correlation with child-reported psychosocial quality of life subscores.ConclusionsAddressing family functioning and integrating psychosocial support into neurofibromatosis type 1 management may enhance adaptation, mental health, and long-term quality of life for affected children and their families.

This multicenter retrospective study examined the clinical characteristics and outcomes of 26 patients with sodium channel protein type 8 subunit alpha (-related epilepsy and/or neurodevelopmental disorders across the Gulf region. Data were collected from August 2024 to January 2025. Most patients (80.77%) experienced epilepsy onset within the first year of life, with a mean onset age of 8.25 months. Common features included developmental delay (69.57%), epileptic encephalopathy (73.08%), intellectual disability (46.15%), and movement disorders (34.62%). Genetic testing identified mutations, primarily loss-of-function variants (65.38%), with missense mutations being most frequent. Seizure types varied, with generalized tonic-clonic (53.84%) and focal seizures (42.31%) being common. Levetiracetam and sodium channel blockers were the most used treatments. A seizure reduction of >50% was achieved in 65.38% of patients, and 26.92% became seizure-free. Loss-of-function mutations were linked to better outcomes. The study underscores the clinical variability of disorders and the importance of personalized genetic diagnosis and targeted therapy.

ObjectiveThe aim of this study was to investigate the relationship between sleep parameters and motor performance, cognitive status, and pulmonary function in children with Duchenne muscular dystrophy (DMD).MethodChildren with DMD aged 5-12 years who were able to walk independently were included in the study. Sleep problems were assessed using a parent-proxy tool, the Children's Sleep Habits Questionnaire (CSHQ). The Pediatric Sleep Questionnaire-sleep-related breathing disorders (PSQ-SRBD) was used to assess sleep-disordered breathing. Motor performance was evaluated using the 6-minute walk test and muscle strength assessments. Cognitive status was assessed by performing dual tasks, including both motor-motor and cognitive-motor tasks. Spirometry was used to measure pulmonary function.ResultsA total of 39 children with DMD (mean age: 9.03 ± 1.88 years) were included. The mean CSHQ total score was 44.79 ± 6.32 points, and 64.1% (n = 25) of the children had sleep problems. The PSQ-SRBD scores did not indicate a significantly increased risk of SRBD (median: 0.15 (IQR: 0.09-0.27)); only 15.4% (n = 6) of the children were found to be at increased risk. No significant associations were found between sleep problems and motor, cognitive, or pulmonary parameters ( > .05).ConclusionBehavioral sleep problems were found to be highly prevalent in children in the early stages of DMD; however, there was no correlation between sleep problems and clinical parameters. Children with DMD should be screened for sleep problems at an early stage, before any deterioration in clinical parameters or symptoms of sleep disturbances is expected.

IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in the gene. Although it clinically resembles classical arylsulfatase A (ARSA)-deficient metachromatic leukodystrophy (MLD), ARSA activity remains biochemically normal. Fewer than 30 genetically confirmed patients have been reported to date.Patient PresentationWe describe 2 pediatric patients with homozygous gene mutations. Both presented with progressive neurodegeneration, spastic quadriparesis, demyelinating peripheral neuropathy, and radiologic findings consistent with MLD. The first patient harbored a canonical splice-site variant (c.577-1G>T), whereas the second carried a recurrent missense mutation (p.Cys241Ser). Notably, the first patient also had a duplication consistent with coexisting CMT1A. Despite preserved ARSA activity, both patients fulfilled clinical and imaging criteria for MLD. Abdominal imaging revealed gallbladder sludge in both patients, with additional biliary tract dilation in one. These hepatobiliary findings have not been previously reported in genetically confirmed saposin B deficiency, broadening the known phenotypic spectrum.ConclusionThese patients underscore the importance of gene sequencing in MLD-like presentations with normal ARSA activity and suggest that hepatobiliary involvement may be an underrecognized feature of saposin B-related MLD.

BackgroundMeningitis remains a major cause of morbidity and mortality among children aged 0-14 years, especially in low- and middle-income countries, despite global advances in vaccines and health care.MethodsBased on Global Burden of Disease (GBD) 2021 data, we assessed meningitis-related prevalence, mortality, and disability-adjusted life years (DALYs) in children aged 0-14 across 204 countries from 1990 to 2021, stratified by age, sex, region, and Socio-demographic Index (SDI). Trends were evaluated using Estimated Annual Percentage Change.ResultsFrom 1990 to 2021, global prevalence, deaths, and DALYs declined by 52.0%, 69.2%, and 69.1%, respectively. The highest burden in 2021 was observed in Sub-Saharan Africa and South Asia. Disease burden showed wide geographic variation and was inversely correlated with SDI. Leading attributable risks included malnutrition and behavioral factors.ConclusionsAlthough meningitis burden has decreased globally, regional disparities persist. Sustained vaccination, health system strengthening, and targeted interventions in high-burden areas remain critical to reducing preventable childhood deaths and disabilities.

Carotid artery dissection is a rare but significant cause of pediatric stroke, often associated with trauma or underlying collagen vascular disorders. The management of these cases, both medical and surgical, is complex, particularly in bilateral dissections where collateral circulation may be insufficient. We describe a case of bilateral internal carotid artery occlusion that developed 10 days after an initial traumatic fall. The progression of ischemic stroke burden and fluctuating neurologic status, despite therapeutic anticoagulation and optimal medical management, led to the decision for endovascular intervention involving balloon angioplasty and stenting. Following the procedure, a rapid improvement in neurologic function was observed, with the patient exhibiting only mild deficits at discharge. This case highlights the complexities in managing pediatric carotid dissections, especially in unusual presentations. Our experience underscores the necessity for tailored treatment strategies, rigorous monitoring, and a multidisciplinary approach to optimize outcomes in pediatric stroke patients.

We report a pediatric case of encephalomyeloradiculoneuropathy (EMRN) presenting with elevated lactate levels in cerebrospinal fluid (CSF) and magnetic resonance spectroscopy (MRS), indicating astrocytic metabolic dysfunction. A 7-year-old girl developed fever, headache, and altered consciousness, initially diagnosed as acute disseminated encephalomyelitis (ADEM). Brain and spinal magnetic resonance imaging revealed multifocal lesions in the cerebral white matter and cervical spinal cord. CSF lactate was markedly elevated (4.06 mmol/L), and MRS demonstrated a lactate peak (7.95 mM). Nerve conduction studies revealed absent F waves and decreased reflexes, indicating peripheral nerve involvement. Anti-lactosylceramide antibodies were detected. The patient showed limited response to corticosteroids and IVIG but improved after plasma exchange. Follow-up MRS confirmed lactate normalization. This case underscores the relevance of astrocytic inflammation in EMRN pathogenesis and utility of MRS in identifying astrocytic metabolic impairment. MRS may differentiate EMRN from ADEM, especially in atypical or treatment-refractory presentations, allowing earlier diagnosis and targeted therapeutic strategies.

To study the cognitive outcome of Chinese very-low-birth-weight (VLBW) infants and its relationship to brain magnetic resonance imaging (MRI), we conducted a prospective cohort design including 104 VLBW and 110 full-term (FT) infants born in 2020. The mean Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) scores of VLBW infants were significantly lower than those of FT infants (all  < .001). The MDI and PDI scores of VLBW infants with MRI abnormalities were significantly lower than those of infants with normal MRI and FT infants (all  < .01). The brain MRI findings were correlated with the incidence of neurodevelopmental impairments (NDI) (OR = 5.05, 95% CI = 1.378-18.478;  = .015). In conclusion, VLBW infants are at high risk for neonatal brain MRI abnormalities and NDI at 24 months, and neonatal MRI abnormality is a strong predictor for later NDI.

Recurrent concussion (RC) studies, especially in young children, are limited and provide conflicting results. We studied 505 children sustaining concussions presenting to an outpatient concussion clinic over a 2-year period, ages 5-18, of which 207 were RCs. Recovery time was defined by days to return to play (RTP), return to learn (RTL), and headache recovery (HR). Recovery was not affected by age at first concussion. Neither loss of consciousness nor posttraumatic amnesia were more frequent in RC. The number of concussions was associated with prolonged HR,  = .03. Prolonged RTP ( = .002) and HR ( = .006) were associated with a longer duration of prior concussion recovery time. Prolonged RTL was associated with a shorter interval between concussions,  = .01. RC was associated with a higher number of total symptoms on initial presentation, endorsed affective symptomology, fatigue and headache, and a history of premorbid self-reported headaches and anxiety. HR was associated with a prior history of self-reported anxiety and depression in RC, whereas, in first concussions (FC) only anxiety was associated. Sleep disturbance on initial presentation was associated with HR in both groups. Although recovery from FC and those with RC exhibit broad variation, RC demonstrates differences in recovery, indicating a need for greater awareness of clinical recovery in this group. Definitions of full recovery from concussion are evolving. Further study of concussion recovery is needed, especially in children with RC.

ObjectiveThe objective of this study was to investigate the effect of antiseizure medications (ASMs) on cognitive abilities in children and adolescent patients newly diagnosed with Juvenile Myoclonic Epilepsy (JME). Additionally, the study compared cognitive abilities between newly diagnosed JME patients and healthy controls.Methods38 patients newly diagnosed with JME based on clinical history and electroencephalographic findings (mean age 14.85 ± 1.80) and 30 healthy control participants (mean age 14.07 ± 1.86) were included in our study. In the JME group, there were 71.1% females and 28.9% males, whereas in the control group there were 60% females and 40% males. Bourdon Attention Test and Wechsler Intelligence Scales for Children-Revised (WISC-R) were performed to measure the cognitive abilities of the patient and control groups. In the JME group, the tests were performed before and 12 months after antiseizure medications were started. The patients' clinical, laboratory, radiologic, and electroencephalographic (EEG) data, as well as their antiseizure medication use and treatment compliance were recorded and collected through our hospital database system during the outpatient clinic visits.ResultsThe results showed a very high and positive correlation between WISC-R-Pre and WISC-R-Post test scores in the patient group, and this was statistically significant ( =0.001). Although the WISC-R-Pre test average was 89.89 ± 20.28, the WISC-R-Post average was 92.66 ± 21.79. This increase was found to be statistically significant ( =0.023). Although the average score of the Bourdon-Pre test was 310.84 ± 104.84, the Bourdon-Post score was found to be 272.79 ± 75.616. This decrease was not found to be statistically significant ( = 0.063). Although the average number of seizures per year was 6.78 before treatment, it decreased to 2.52 after treatment. This difference was found to be statistically significant ( =0.001). The strongest significance with the lowest value (0.003) was observed in the levetiracetam group. In the patient group, a positive correlation was found between the number of seizures and WISC-R-Post test scores and this was statistically significant ( =0.05).ConclusionsNo significant difference was found between the newly diagnosed JME patients and the healthy control group in terms of intelligence level and attention performance. However, it was concluded that the antiseizure medications initiated in the patient group had a positive effect on cognitive function. In addition, a statistically significant positive correlation was detected between the decrease in the number of seizures after medication and the WISC-R-Post test, demonstrating the positive effect of drug treatment on cognitive functions.

Pediatric stroke is a rare entity but has high mortality and morbidity. This case report describes the presentation of acute ischemic stroke in a 7-year-old boy with a large cerebral arteriovenous malformation. The case emphasizes the early diagnosis of stroke, and dissects the mechanisms and presentation of possible stroke etiologies with multiple risk factors.

We examined associations between magnetic resonance imaging (MRI)-obtained cervical spine flexor and extensor muscle fat infiltrate and muscle volume with (1) return-to-play clearance and (2) postconcussion injury incidence. Adolescents (N = 30, age = 15.8 ± 1.3 years, 60% female) underwent cervical spine MRI initially postconcussion and were monitored until return to play. After return-to-play clearance, participants underwent follow-up MRI and completed monthly injury surveys for 12 months. Cox proportional hazards regression examined associations between muscle fat infiltrate and muscle volume (1) initially postconcussion with return-to-play clearance and (2) at return-to-play with subsequent injury incidence. Adjusting for covariates, return-to-play clearance was not associated with cervical spine muscle fat infiltrate (hazard ratio [HR] = 0.99, 95% confidence interval [CI]: 0.96-1.02) or muscle volume (HR = 0.98; 95% CI: 0.96-1.01). Adjusting for covariates, postconcussion injuries were not associated with muscle fat infiltrate (HR = 0.90; 95% CI: 0.78-1.05) or muscle volume (HR = 1.01; 95% CI: 0.97-1.04). Cervical spine muscle characteristics may not be affected after concussion, or our MRIs may have occurred too early to capture postconcussion dysfunction.

Infantile epileptic spasms syndrome is an early-onset epileptic encephalopathy. Its association with inborn errors of metabolism is underrecognized, and the treatment can be complicated by the biochemical vulnerability. This report showed individualized treatment in 2 patients with inborn errors of metabolism. The first patient was found to have propionic acidemia in the setting of encephalopathy by third day of life. Infantile epileptic spasms syndrome was diagnosed at 10 months. Levetiracetam was started, and vigabatrin was introduced following liver transplant, which resulted in seizure freedom. The second patient presented at 6 months with hyperammonemia and elevated orotic acid consistent with ornithine transcarbamylase deficiency. Infantile epileptic spasms syndrome was diagnosed 3 weeks later. Treatment with vigabatrin, adjunctive to levetiracetam, led to a brief period of seizure cessation. The patient was later treated with two 4-week courses of enteral prednisolone, leading to the cessation of spasm. These cases emphasize the complexity in managing infantile epileptic spasms syndrome in patients at high risk for metabolic decompensation.

BackgroundKetogenic therapy is an adjunct therapy for drug-resistant epilepsy and is usually initiated while patients are hospitalized. Phoenix Children's has experience with safe and effective outpatient initiation of ketogenic therapy in infants 18 months of age and younger.MethodsA retrospective chart review of 37 infants who initiated ketogenic therapy from 2011 to 2022 was performed.ResultsThe median (range) age of patients was 10 (2-18) months. Ketogenic therapy reduced seizures by at least 50% in 23 of 37 patients (62%). Adverse effects were reported in 32 of 37 patients (86%), including constipation, vomiting, and acidosis. Of 32 patients who developed adverse effects, all were managed as outpatients, and 4 (12%) required hospitalization to manage additional adverse effects.ConclusionThe results suggest that outpatient initiation of ketogenic therapy for infants ≤18 months of age was safe and efficacious in this cohort.

Situational syncope refers to syncope that occurs in specific situations and is a special type of neurally mediated syncope. The etiologic composition of situational syncope varies between adults and children. In adults, it is more common during micturition and defecation, whereas in children, it is more frequently seen during flag-raising, micturition, and defecation. The clinical features and underlying mechanisms of various types of situational syncope also differ in terms of age and sex. The treatment of situational syncope mainly includes nonpharmacologic treatment, pharmacologic treatment, and surgical treatment. Adverse events related to situational syncope are rare, and the prognosis is generally good if there are no other systemic diseases. However, in patients with underlying cardiovascular diseases, situational syncope can lead to serious cardiovascular adverse events.

A twig-like middle cerebral artery is a rare vascular anomaly that presents with cerebral infarction, transient ischemic attack, headache, seizures, and intracerebral hemorrhage. It can be mistaken for unilateral moyamoya disease and focal cerebral arteriopathy of the inflammatory type. Recognizing this distinction is vital for guiding monitoring and stroke prevention strategies. Overall, the twig-like middle cerebral artery is a rare condition, but it has been reported more frequently in adults than in children. Because of its rarity, the diagnosis is often missed, making it crucial to raise awareness about this entity. We report a case of a twig-like middle cerebral artery presenting as a stroke in an infant, initially misdiagnosed as moyamoya disease. This is the first report of a twig-like middle cerebral artery in an infant. Relevant literature is reviewed in the discussion.

Recent medical advances are allowing more youth with neuromuscular disorders to live into adulthood, thus increasing the necessity to transition youth from pediatric to adult medical care. Examining salient factors and processes for successful transition planning from pediatric to adult medical care in youth with neuromuscular disorders is a nascent field of study. The current study aims to address the key quality improvement question of identifying factors to consider when planning for transition by exploring the views of youth with neuromuscular disorders, caregivers, and providers within a multidisciplinary clinic regarding current care transition practices via quantitative and qualitative approaches. Both qualitative and quantitative results highlighted patient-endorsed importance of transition and emphasized the need for future tailored supports to facilitate gleaning skills for transition. Overall, this study offers valuable insights from patients, parents, and providers about challenges and best practices involved in transition planning for young adults with neuromuscular disorders.

BackgroundBotulinum toxin is widely used for the treatment of spasticity in pediatric patients with cerebral palsy. Although regarded as safe, rare but severe systemic complications, such as iatrogenic botulism, may arise.Case PresentationWe present the case of an 8-year-old boy with cerebral palsy who experienced global muscle weakness, bilateral ptosis, dysphagia, and respiratory distress after botulinum toxin A (Dysport). The clinical presentation was consistent with iatrogenic botulism. The patient was administered botulinum antitoxin, resulting in a gradual enhancement of the condition. Sequential clinical photos depict the progression of the sickness and subsequent recovery, which led to progressive improvement.ConclusionIatrogenic botulism must be contemplated in individuals exhibiting new-onset bulbar or respiratory symptoms after botulinum toxin injection. Timely identification and prompt commencement of antitoxin treatment are essential for positive outcomes.

Visuoperceptual skills are crucial for childhood development yet remain poorly understood in children with perinatal arterial ischemic stroke (PAIS). This study examined visuoperceptual performance and structural connectivity of visual pathways in children with perinatal arterial ischemic stroke and typically developing controls. Participants completed the Motor-Free Visual Perceptual Test (MVPT), Apples Test, Jerry John's Basic Reading Inventory (BRI), and diffusion-weighted magnetic resonance imaging (MRI) with tractography of optic pathways. Visuoperceptual and reading scores were compared by group and lesion laterality. Twenty-six perinatal arterial ischemic stroke and 27 typically developing controls were recruited. Perinatal arterial ischemic stroke children scored significantly lower on the Motor-Free Visual Perceptual Test and Jerry John's Basic Reading Inventory and took longer on the Apples Test. Right hemisphere lesions were associated with greater deficits in visuoperceptual and reading than left-sided lesions. No correlations were found between white matter microstructure and visuoperceptual scores. Findings highlight the need for early visuoperceptual screening in perinatal arterial ischemic stroke, regardless of motor status, and further investigation by lesion laterality.