Child neurology open最新文献

We describe a neonate presenting on first day of life with refractory seizures secondary to a single, large area of focal cortical dysplasia (FCD) who underwent surgical resection at age 3 weeks leading to resolution of seizure activity and dramatic improvement in developmental trajectory. Surgical intervention for epilepsy is infrequently offered for neonates, often reserved only for those with catastrophic presentations. This case demonstrates that surgical intervention can be safe and efficacious in neonates for pharmaco-resistant seizures associated with a focal lesion. Rapid whole exome sequencing in this case yielded a germline novel de novo TSC1 mutation, leading to a genetic diagnosis of tuberous sclerosis complex (TSC). Our patient demonstrates an atypical neonatal presentation of TSC. Limited data is available for those with isolated FCD in TSC; this is the first reported case in a neonate.

This report describes an infant who developed iris heterochromia 2 years after presenting at age 2 months with acquired Horner syndrome following excision of a parapharyngeal neuroblastoma. Iris heterochromia is classically associated with congenital, not acquired, Horner syndrome due to a disruption of the oculosympathetic pathway early in life that alters iris melanocyte migration, leading to an ipsilateral lighter colored iris compared to the fellow iris. In the case reported here, the disruption to the oculosympathetic pathway occurred so early in life that normal iris melanocyte migration was impacted on the affected side, leading to eventual iris heterochromia that was noted almost 2 years later.

Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsilon subunit causing primary acetylcholine-receptor deficiency in two siblings. Two siblings presented with fatigable weakness. Both siblings had whole exome sequencing showing a homozygous variant (c.322C > T, p.Pro108Ser) of unknown significance in the epsilon subunit. Electromyography/nerve conduction study with repetitive nerve stimulation on one sibling showed a defect in neuromuscular junction transmission. Pseudoephedrine and fluoxetine for suspected slow-channel congenital myasthenic syndrome yielded no improvement. A trial of pyridostigmine led to clinical improvement. Given the clinical presentation, consanguinity, homozygous genetic variant, and response to pyridostigmine, we rationalize the homozygous variant (c.322C > T, p.Pro108Ser) in cholinergic receptor nicotinic epsilon subunit causes the primary acetylcholine-receptor deficiency congenital myasthenic syndrome.

Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the form of line charts and illustrated graphs. Results: The mean current age of was 117 months (±29.03) (range 12-372 months). The mean age of disease onset was 28.32 months (±13.68) (range 8 days - 252 months). The most prevalent symptom was developmental delays, mainly speech and motor, seizures, and intellectual disability. The male-to-female ratio was 3:1. Multiple treatments were used, with 54 pharmacological interventions, valproic acid being the most common. Creatinine monohydrate was the prevalent dietary intervention, with 25 patients reporting an improvement. Conclusion: The study suggests that efficient treatment with appropriate dietary intervention can improve patients' health, stressing that personalized treatment programs are essential in managing this disorder.

ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephalitis. The patient had displayed normal development until 12 months of age. At 13 months of age, one month after experiencing a post-vaccination fever, she quickly progressed to being unable to sit unassisted nor speak any words. Analysis of the cerebrospinal fluid (CSF) revealed lympho-dominant pleocytosis. Amino acid analysis of both the serum and CSF demonstrated elevated glycine exclusively in the CSF. Diffuse leukodystrophy was noted in the brain magnetic resonance image. Whole exome sequencing revealed compound heterozygous ISCA2 variants of c.166T>G, p.C56G and c.422A>C, p.Q141P. No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases of early onset rapid developmental regression with leukodystrophy, MMDS4 should be considered.

At the time of graduation from medical school, medical students have been exposed primarily to adult neurology and have limited exposure to child neurology. Child neurology is a unique field that encompasses caring for children with neurological conditions ranging from routine to rare. There are many opportunities for a variety of unique careers in child neurology including both in the inpatient and outpatient setting. This article aims to provide practical advice for the medical student interested in child neurology to best prepare for a successful match and rewarding career.

Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.

Despite the ubiquitous nature of human herpesvirus-7 (HHV-7) infection, its clinical significance in the central nervous system (CNS) is poorly understood. However, the related human herpesvirus-6 (HHV-6), which has remarkable genomic similarity to HHV-7, is linked to encephalitis. We present the case of a 17-year-old immunocompetent male with remote history of seizure who arrived in status epilepticus. Upon resolution, he required hospitalization for worsening encephalopathy. Electroencephalogram (EEG) revealed bilateral temporal lobe dysfunction and magnetic resonance imaging (MRI) showed increased signaling in bilateral medial temporal lobes with hippocampal microhemorrhages. Empiric intravenous (IV) acyclovir was initiated despite initially negative cerebrospinal fluid (CSF) studies due to concern for herpes simplex virus (HSV) encephalitis. The patient improved and was discharged on hospital day 13 (HD13). After discharge, a human metagenomics CSF panel resulted positive only for HHV-7, making a case for possible etiology and empiric treatment of HHV-7 despite delayed CSF and serum studies.

In epilepsia partialis continua (EPC), the EEG tracings may fail to show epileptiform activity because the electrical activity is too subtle or too deep to be picked up by surface electrodes. EPC can occur at any age and may have many etiologies, including genetic, metabolic, structural, infectious, and idiopathic. Typical EEG in EPC is characterized by discharges of cortical origin that commonly consist of sharp waves, spikes or periodic lateralized epileptiform discharge; however, EEG findings at large are variable and often not even identified. Here we present a pediatric case of EPC in the setting of subdural empyema with atypical EEG seizure associated with focal clonic activity who made rapid improvements.

Objective: To evaluate improved identification and the generalization of the RITA-T (Rapid interactive Screening Test for Autism in Toddlers) model through partnerships with Primary Care (PC), Early Intervention (EI), and Autism Diagnosticians. Methods: Over 3 years (2018-2021), 15 EI and 9 PC (MD and NP) centers participated in this project. We trained providers on the RITA-T and established screening models. We reviewed charts of all toddlers referred through this model and compared wait times, and diagnoses, to those evaluated through regular referral in a tertiary-based autism clinic. We also examined the RITA-T psychometrics. Results: 377 toddlers met our inclusion criteria. Wait time for diagnosis was an average of 2.8 months and led to further collaboration between community providers. RITA-T cut-off scores stayed consistent. Providers reported improved confidence and easy integration of this model. Conclusions: This model is generalizable and improves the Early Identification of ASD.