Journal of Child Neurology最新文献

Brucellosis is a zoonotic infection common in many parts of the world, but rare in the United States. This case report presents a unique instance of pediatric neurobrucellosis mimicking a brain tumor, marking the first reported case in the United States and only the fourth globally in the general population. Brucellosis is endemic to the Middle East, Indian subcontinent, South Africa, parts of South and Central America, and Mexico. The primary Brucella species causing human infection include Brucella melitensis (reservoir: sheep and goats), Brucella suis (swine), and Brucella abortus (cattle), with transmission primarily via unpasteurized dairy, direct animal contact, or inhalation of aerosols.¹ Neurobrucellosis, a rare complication, manifests in diverse ways, including meningitis, encephalitis, cranial neuropathies, intracranial hypertension, and psychiatric symptoms. Its clinical variability often leads to diagnostic delays and complications. Early recognition and treatment require a high index of suspicion to mitigate its potentially severe outcomes.² This case underscores the importance of considering neurobrucellosis in atypical neurologic presentations.

Pathogenic variants in the HADHA and HADHB genes are associated with impairment of mitochondrial trifunctional protein. Mitochondrial trifunctional protein deficiency is a disorder of long-chain fatty acid oxidation with different clinical presentations: the neonatal-onset form expressing with severe cardiac phenotype, the infantile-onset form with intermediate hepatic phenotype with metabolic crises, and the late-onset form with mild neuromyopathic phenotype. Long-term complications in patients with the intermediate and late-onset phenotypes include peripheral neuropathy and retinopathy. We report a patient harboring 2 compound heterozygous variants in the HADHA gene (p.Tyr724* and p.Gly319Ser) and presenting with an early-onset, progressive sensorimotor axonal polyneuropathy, without any other systemic manifestations typical of mitochondrial trifunctional protein deficiency. We also provide a literature review of HADHA mutated patients presenting with early-onset isolated neuropathy phenotype.

Wernicke encephalopathy is most commonly associated with alcohol consumption and in patients with malnutrition. This case report discusses a rare presentation in an adolescent due to avoidant restrictive food intake disorder following COVID-19 infection. We performed a review of the literature and compiled reported cases of pediatric Wernicke encephalopathy.

BackgroundMany individuals with chronic tic disorders endorse sensory dysregulation. Whether sensory dysregulation is linked with co-occurring conditions or associated with greater tic severity, urge severity, or severity of co-occurring conditions in this population is unknown. Characterizing sensory dysregulation in chronic tic disorders may help illustrate the mechanisms underlying development of chronic tic disorders.MethodsWe enrolled 40 subjects ages 6 to 17 with chronic tic disorders. Sensory profiles were determined by the parent-proxy reported Short Sensory Profile 2 or the self-reported Adolescent/Adult Sensory Profile. Symptom severities for anxiety, tics, obsessive-compulsive disorder, attention-deficit hyperactivity disorder (ADHD), and premonitory urge were assessed. Anxiety disorder diagnoses were determined using the Anxiety and Related Disorders-IV Child and Parent Interview. Obsessive-compulsive disorder and ADHD diagnoses were determined by clinician interview. Relationships between abnormal sensory profiles and co-occurring conditions were assessed with the Fisher exact test. Relationships between sensory profiles and continuous variables were assessed using Student 2-sided t test and linear regression.ResultsGreater total sensory profile scores in youth with chronic tic disorders were associated with worse tic (P = .001) and premonitory urge severities (P = .002). Participants with abnormal sensory avoidance and sensitivity had greater obsessive-compulsive disorder (avoidance: P < .001; sensitivity: P = .002), ADHD (avoidance: P = .01; sensitivity: P < .001), and anxiety (Screen for Child Anxiety-Related Emotional Disorders [SCARED]-Parent avoidance: P = .009; SCARED-Parent sensitivity: P = .01; SCARED-Child avoidance: P = .004; SCARED-Child sensitivity: P < .001) symptom severity compared with participants with normal sensory avoidance and sensitivity.ConclusionSensory dysregulation, specifically abnormal sensory avoidance and sensory sensitivity, is common in youth with chronic tic disorders and associated with increased severity of chronic tic disorders-related symptoms and co-occurring conditions.

Motor function, quality of life, and multidisciplinary treatment of patients with spinal muscular atrophy using disease-modifying therapies were evaluated. Assessments were performed according to the patient's functional capacity. Twenty patients were included in the study: 6 nonsitters and 14 sitters. Quality of life was assessed using the Pediatric Quality of Life Inventory 4.0 (PedsQL)-Neuromuscular Module. Low motor function performance and adequate quality of life were identified. Low motor function performance may be related to delayed onset of disease-modifying therapy; however, quality of life is good for a population receiving adequate treatment. Therefore, we conclude that the age at which drug treatment begins influences motor function scores and that adequate drug and multidisciplinary treatment improves the perception of quality of life.

Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.

Primary headache disorders are common in the pediatric population, and a possible association with obesity has been suggested. In this cross-sectional case-control study data were collected on 137 patients from the Pediatric Headache Outpatient Clinic, Herlev and Gentofte Hospital, Denmark. Patients with primary headache completed questionnaires concerning headache characteristics and underwent a physical examination with height and weight measurements. Headache patients were compared to 122 healthy controls who completed the same examinations. Healthy controls were recruited from schools on Zealand, Denmark. The study did not find any significant differences in body mass index z score, neither between patients with headache and healthy controls, nor between patients with migraine and tension-type headache. The study did not find any association between obesity and primary headache. Future studies on association between obesity and primary headache disorders within the pediatric population are needed.

Autism spectrum disorder (ASD) is a heterogeneous neurobehavioral disorder. Children with ASD often have restrictive diets that can be due to food aversion, sensory sensitivities, ritualistic behavior, or comorbid gastrointestinal issues. Diet and nutritional status play a critical role in the health of neurodevelopment, and the microbiome, and can affect cognition, motor and sensory status, behavior, and sleep. Children with ASD are 5 times more likely to develop eating problems and secondary vitamin and nutritional deficiencies. Such dietary restriction has been causative of vitamin and nutritional deficiencies that can lead to permanent sequelae if not adequately identified and treated. Symptoms of these deficiencies can be subtle and misleading and, thus, underrecognized. This review discusses various symptomatic vitamin and nutrient deficiencies associated with dietary restrictions that can occur in children and adolescents with ASD of which clinicians need to be aware. With treatment, symptoms can be reversible. Without timely treatment, sequelae can be permanent.

Dravet syndrome (DS) is a developmental and epileptic encephalopathy often resulting from haploinsufficiency of the voltage-gated sodium channel (VGSC) gene SCN1A located on chromosome 2q24.3. Although single-nucleotide changes account for the majority of cases, rare cases are due to 2q24.3 microdeletions involving SCN1A. The 2q24.3 region surrounding SCN1A contains a cluster of VGSC genes including SCN2A, SCN3A, SCN7A, and SCN9A. Prior publications reported larger 2q24.3 deletions affecting multiple VGSC genes being associated with a more severe phenotype. Consensus recommendations for epilepsy therapies do not exist for DS patients with 2q24.3 deletion involving other VGSC genes. To address this gap, we qualitatively assessed the therapy response in 5 patients with 2q24.3 microdeletions. We found evidence of efficacy for valproic acid, clobazam, and cannabidiol whereas levetiracetam and phenobarbital were not beneficial. Additional studies are necessary to examine the efficacy of fenfluramine and the ketogenic diet.