Child Neurology Open

De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD...

Chiari malformation is a clinico-radiological entity defined by herniation of rhombencephalic structures through the foramen magnum. The most common type, Chiari I, involves herniation of the cerebellar tonsils specifically. We present the case of a 2-year-old with three weeks of progressive bilateral leg weakness, absent reflexes, and the inability to walk. The patient was found to have Chiari I with hydrocephalus and syringomyelia. This is the youngest patient reported in the literature presenting with a clinical picture of spinal shock...

Social media has changed the way we communicate and interact. Unsurprisingly, it has also changed how we teach and learn. Younger generations of learners have transitioned from traditional educational sources to digital ones. Medical educators need to adapt to trends in medical education and develop fluency in the digital methods used by medical learners today. This is part two of a two-part series on social media and digital education in neurology. This article provides an overview of how social media can be used as a teaching tool in medical education and provides an overview in which it is grounded...

A 17-year-old female with sickle cell disease status post a recent stem cell transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, and drooling. Brain MRI revealed diffuse restricted diffusion involving the bilateral corona radiata and areas of white matter in the right cerebral hemisphere most consistent with toxic leukoencephalopathy. Tacrolimus serum concentration was high at 19.3 ng/ml (ref 9-12 ng/ml) for which tacrolimus was discontinued. She was neurologically back at baseline 2 days later with the tacrolimus level improving to 8...

Introduction: Despite US FDA approval of cannabidiol (CBD) liquid (Epidiolex®), patients with epilepsy still supplement prescription treatments with dispensary CBD. This study aimed to evaluate therapeutic effectiveness of dispensary CBD. Methods: We retrospectively collected dosage information, CBD serum levels, efficacy, and adverse effects from patient charts (children, adolescents, adults) (n = 18). Results: All 18 patients showed no clinical benefit from dispensary CBD as detectable serum levels never reached a therapeutic range of 150 ng/mL (6 patients had barely detectable levels that were below laboratory reporting thresholds)...

SCN2A , a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1 . Given the rarity of SCN2A -associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A -associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxia lasting 4 months, cerebellar atrophy, and persistent mild ataxia with episodic exacerbations...

Objective: This study aimed to describe shunt malfunction symptoms in children ≤5 years old. Results: In a national survey of 228 caregivers, vomiting (23.1%), irritability (20.8%), and sleepiness (17.2%) were the most frequent symptoms of malfunction. These symptoms also occurred in over 1/3 of "false alarms" experienced by 75% of respondents. Compared with malfunctions, irritability (OR = 1.39, 95% CI [1.05, 1.85], p = 0.022) and fever (OR = 2.22, 95% CI [1...

Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse midline craniofacial malformations affecting the frontal-cranial and midface skeleton. Diagnosing midline abnormalities prenatally can be challenging, especially in twin pregnancies, due to poor resolution of skull base structures on fetal MRI, basal cephalocele could be mistaken for fluid in the nasopharynx, motion limitation, and fetal positioning...

We present contactless technology measuring abnormal ventilation and compare it with polysomnography (PSG). A 13-years old girl with Pitt-Hopkins syndrome presented hyperpnoea periods with apneic spells. The PSG was conducted simultaneously with Emfit movement sensor (Emfit, Finland) and video camera with depth sensor (NEL, Finland). The respiratory efforts from PSG, Emfit sensor, and NEL were compared. In addition, we measured daytime breathing with tracheal microphone (PneaVox,France). The aim was to deepen the knowledge of daytime hyperpnoea periods and ensure that no upper airway obstruction was present during sleep...

Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described. Here we report seizure and electroencephalographic features of boys with dystrophinopathy and epilepsy. This is a retrospective chart review of eight patients with dystrophinopathy and epilepsy seen at Arkansas Children's Hospital and University of Rochester Medical center...

Pediatric chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired immune-mediated disorder of the peripheral nervous system with a number of diagnostic pitfalls. A subset of treatment-resistant CIDP adult patients have been found with antibodies against paranodal proteins. We report the first pediatric case in a 14 year-old adolescent with a severe CIDP phenotype in whom positive anti-neurofascin 155 antibodies were found in his serum. Resistant to conventional therapies, he showed dramatic improvement when treated with Rituximab with mild to moderate functional motor disability at 24 month follow-up...

ALG6-CDG is a rare, but second most common, type 1 congenital disorder of glycosylation (CDG) caused by a defect in the α-1-3-glucosyltransferase (ALG6) enzyme in the N-glycan assembly pathway. Many mutations have been identified and inherited in an autosomal recessive pattern. There are less than 100 ALG6-CDG cases reported, all sharing the phenotype of hypotonia and developmental delay. The majority (perhaps >70%) have seizures, but a minority have intractable epilepsy or epileptic encephalopathy...

Distinguishing abnormal electroencephalogram (EEG) waveforms from benign variants is critical for accurate interpretation of EEG. Hyperventilation (HV) is one of the basic procedures during EEG to enable activation of epileptiform activity. Rarely, HV can activate benign EEG rhythms. Herein, we illustrate two pediatric cases with bursts of rhythmic mid-temporal theta of drowsiness (RMTD), activated by hyperventilation. Continued awareness of this EEG phenomenology and its variations in pediatrics is important in avoiding misdiagnosis of epilepsy...

We report the case of a 3-year-old boy who presented with recurrent stereotyped transient episodes of left sided weakness consistent with capsular warning syndrome (CWS) which eventually progressed to acute ischemic stroke (AIS). He received thrombolytic therapy with tissue plasminogen activator. Workup was notable for positive CSF varicella (VZV) PCR, and positive CSF and serum VZV IgG and negative IgM. On further history, he was unvaccinated and had a rash consistent with VZV 5 months prior to presentation...

The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with NTRK1 fusion with course complicated by seizures refractory to medical treatment...

In current literature, there is uncertainty in the pathophysiology and management of influenza-associated Acute Necrotizing Encephalitis. Because of this and the rarity of the disease, no clear treatment guidelines exist. It is thought that treatment after 24 h of symptom onset or known brainstem involvement are poor predictors of outcome. Here, we present a case that provides support for aggressive management of the inflammatory cascade with combination high-dose steroid, immunoglobulin, and anti-viral therapy with oseltamivir despite initiation after 24 h from symptom onset, brainstem involvement, and a pathogenic RANBP2 gene mutation which mechanistically increases oxidative stress, cytokine effects, and possibly viral invasion into brain tissue and vasculature...

Background: Although headache is common in pediatrics, data for the Flemish population are missing. We explored headache-prevalence, and its association with communication-technology (CT) and physical activity (PA) in Flemish children and adolescents. Methods: A cross-sectional exploratory school-based questionnaire study was designed. Flemish boys and girls (5-18 years) completed a symptom-questionnaire. Primary outcomes: sociodemographic background, headache-prevalence, headache-characteristics, CT-use and PA characteristics (self-report)...

Torcular dural sinus malformations (tDSMs) can occur in the brain during prenatal development. These rare vascular malformations occur in less than 1% of the population but can lead to a poor prognosis secondary to congestive heart failure and hydrocephalus. Many tDSM cases require surgical embolization or coiling to return normal cerebral blood flow and prevent mortality and morbidity. We describe the first case of spontaneous self-embolization of a large torcular dural sinus malformation, possibly due to hypercoagulability from a comorbid prothrombin gene variant...

Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD is characterized by muscle weakness and atrophy predominantly affecting the calf muscles with symptoms onset between 14 and 40 years of age. There is no clear phenotype - genotype correlation for dysferlinopathy...

Pediatric stroke is uncommon. A traumatic cause of pediatric ischemic stroke is even rarer. Ischemic stroke due to intraluminal thrombus can be acutely treated with thrombolysis but various factors in sub-Saharan Africa make this unfeasible. We present a case of an eight-year-old Tanzanian boy who sustained penetrating trauma to his palate developing an ischemic stroke of his right middle cerebral artery territory.