Annals of the Child Neurology Society最新文献

Magnetoencephalography (MEG) is a technology used in pediatric and adult epilepsy that records magnetic fields produced from electric currents in the brain. MEG can locate epileptogenic zone(s), lateralize language functions, localize sensorimotor cortex, and identify visually evoked fields. It is a powerful technology with key advantages in pediatrics. The majority of its limitations are resource driven. With advancing technology, MEG will become a more prominent and valuable tool used in pediatric epilepsy and epilepsy surgery in the future. We review MEG and provide illustrative cases to showcase its usage.

We highlight a patient whose focal epilepsy was misdiagnosed as periodic paralysis in order to better understand the diagnosis of periodic paralysis. In the evaluation of any mysterious spell, event capture and consideration of seizures are paramount.

This 24-year-old man with right hemiplegic spastic cerebral palsy presented to the epilepsy monitoring unit (EMU) for evaluation of episodic motor weakness that began at age ten. These events would last less than three minutes. He could speak and remained conscious during the spells. His parents reported that he appeared paralyzed during these episodes. He appeared “stuck” and had rigid tone and fixed posture. He underwent an extensive evaluation and was diagnosed with periodic paralysis (PP) and prescribed acetazolamide. In his 20s, he noted that an aura preceded these events. He experienced auditory hallucinations, a sensation of stomach acid in his throat, and fear, followed by an inability to move. He was evaluated for PP with electrolyte testing, genetics, and electromyography, all of which were normal.

Brain magnetic resonance imaging revealed a presumed perinatal cerebrovascular infarction in his left hemisphere (Figure 1), consistent with his findings of right spastic hemiplegic cerebral palsy.

During his EMU admission, a typical event was captured (Video 1). Based on these findings, his episodes were determined to be epilepsy and his treatment was modified to include valproic acid and discontinue acetazolamide. He was last seen three months after EMU admission and remained seizure-free on valproic acid monotherapy.

We describe a patient with focal epilepsy that was misdiagnosed as PP. He had never been admitted to an EMU. A thorough history and evaluation ultimately determined an alternative etiology of his episodes. Episodic weakness could be attributed to PP, nonepileptic events, metabolic derangements, cardiogenic syncope, or, as highlighted in this report, epileptic seizures.

The suspicion of PP was surprising, given the descriptions of his episodes. PP is a rare neuromuscular genetic disorder that can be generally divided into three categories: hyperkalemic, hypokalemic, and normokalemic. CACNA1S, SCN4A, and KCNJ2 are the most common gene mutations.¹ Mutations of SCN4A most often present with hyperkalemic PP. SCN4A genes produce Na1.4 ion channels in muscle.² These ion channels allow an influx of sodium during the depolarization phase of an action potential.² The mutation leaves the sodium channel open for a prolonged period, thereby disabling further action potentials from generating. This shifts potassium outwards, resulting in elevated levels during attacks.² Hypokalemic periodic paralysis is often the result of CACNA1S mutations. These mutations affect Cav1.1 channels and cause a reduced ability for the muscle to

Infants with prematurity and necrotizing enterocolitis (NEC) are at increased risk for short bowel syndrome and subsequent nutritional deficiencies. In particular, ileal resection is associated with vitamin B₁₂ malabsorption, which interferes with normal myelination and homocysteine metabolism.^{1, 2} Vitamin B₁₂ deficiency is associated with neurodevelopmental delay as well as hyperhomocysteinemia, which increases the risk for venous thrombosis.^{2, 3}

This eight-year-old boy presented with severe headache, dehydration, and lethargy. He developed acute onset severe frontal headache followed by decreased oral intake, decreased urine output, and recurrent vomiting. The headache was dull and radiating to the back of his head. At the same time, he appeared to be sleepy and less active. These symptoms lasted for two to three days before he was brought to the primary doctor's office and then referred to the emergency department. On assessment, he was tired-looking and exhibited mild microcephaly, but his neurological examination was normal, as was an examination by an ophthalmologist.

He experienced mild global developmental delay. He was born at 25 weeks gestational age and had a prolonged stay in the neonatal intensive care unit, complicated by NEC and a hemicolectomy with ileostomy and removal of ileocecal valve. He had low normal levels of B₁₂ for several years prior to presentation and was not treated (151 pg/ml after surgery [normal 160-950]).

Brain magnetic resonance imaging and magnetic resonance venography (MRV) showed filling defects in the inferior sagittal, straight, torcula, and proximal transverse sinuses consistent with cerebral venous sinus thrombosis (CVST) with no evidence of acute infarction (Figure 1). Dehydration was initially considered to be the cause. Enoxaparin sodium was started at 1 mg/kg every 12 h with the goal of anti-Xa level between 0.5 and 1.0 U/ml. The hypercoagulation evaluation was normal. The B₁₂ level was 86 pg/ml. His hematocrit was 33.3, and his mean corpuscular volume (MCV) was 87.4. He was not treated at that time. He was discharged within a week after the repeat imaging remained stable with the goal to continue enoxaparin sodium for three months.

After three months, he again developed headache and lethargy, and MRV showed a new thrombus. Enoxaparin was switched to warfarin. After a year of warfarin, the clot resolved but he still had headaches. Two B₁₂ levels were obtained, both below 200. His anemia worsened (hematocrit 24.7) and his MCV increased to 96.9. The homocysteine level was 184 μmol/L (normal <11.4). At this point, he began B₁₂ injections (1000 mcg daily for one week followed by monthly and then quarterly injections thereafter). His B₁₂ levels normalized and remained normal throughout his course. The warfarin was discontinued and thrombus has not recurr

This editorial marks the formal beginning of the Annals of the Child Neurology Society (ACNS), an official journal of the Child Neurology Society (CNS). Since its founding in 1972, the CNS membership has increased steadily and the needs of its members have become more diverse. This is an extraordinarily productive era for the study of childhood neurological disorders, and the steady stream of exciting discoveries make this an ideal time for the society to launch its clinically focused journal.

The CNS will maintain its traditional relationship with Annals of Neurology, with its focus on more basic research. Several years ago, the American Neurological Association created Annals of Clinical and Translational Neurology, and the addition of ACNS by the CNS forms an Annals “family” of journals that together support a wide range of scholarly endeavors.

Creation of ACNS is arguably the most important venture for the society in many years. All new journals face challenges both expected and unexpected, and the fledgling journal will need time to grow and mature. But the CNS needs a clinically focused journal, and we will succeed.

ACNS provides a venue for clinically focused articles and for society business. We will publish clinical and translational research articles, epidemiology studies, case series, case reports, educational image vignettes, quality improvement articles, letters, and commentaries on medicine or societal factors that affect the care of children with neurological disease. Clinically relevant basic science articles are encouraged. Manuscripts must undergo rigorous peer review and revision before acceptance.

We have assembled an outstanding editorial team (Table 1) and a diverse editorial board whose members have broad expertise in child neurology as well as in important areas such as neuroradiology and neurosurgery (Table 2). The editorial board includes both established leaders in the field and up-and-coming colleagues who represent the future of the profession. While centered in North America, ACNS has editorial board representatives from Africa, South America, Asia, Europe, and the Middle East.

ACNS is owned by the CNS and will be published via a contract with Wiley, much like the arrangement for Annals of Neurology between the American Neurological Association and Wiley. The society maintains editorial control of ACNS, selecting the publishing partner, choosing the editor-in-chief, and approving associate editors and editorial board members. At least 65% of the editorial board members must be CNS members in good standing. The ACNS editorial team will make the final determination of a manuscript′s suitability for publication.

The articles in open access journals are freely available to anyone with internet access and, consequently, reach a larger audience and tend to be cited more often than equivalent articles in subscription journals. Both open access and sub

Guidance of axons sprouting from maturing neuroblasts, during intermediate trajectories and in seeking target neurons for synaptogenesis, is a fundamental developmental process in central nervous system maturation. Axons but not dendrites sprout from neuroblasts during migration. The growth cone of the axonal tip projects constantly changing multiple veils and spikes (lamellipodia and filopodia) that contain microtubules, actin microfilaments, mitochondria, endosomes, and membrane receptor proteins. They are sensitive to changes in ionic calcium flux and may be impeded by perinatal hyper- or hypoglycemia. The growth of axonal membranes occurs mainly at the growth cone. Neurofilaments appear in the axonal tip as it approaches its target. Growth cones are attracted to or repelled by various extracellular matrix molecules that guide them, such as netrins and glycoproteins. Numerous genes are involved, some specific for only certain projections. Neurotransmitters later to be secreted are recognized in growing axons before their synthesis. Axonal fascicles are enveloped by extracellular keratan sulfate that ensures that fascicles contain axons of similar origin and destination and whose neurons secrete the same transmitter. Near their targets, axonal tips may ramify to form synapses on more than one neuron. Transitory pioneer axons provide supplementary mechanical guides to permanent axonal trajectories. Thalamus and olfactory bulb contain axonless neurons with dendrodendritic synapses. Chromaffin neurons of neural crest origin develop no neurites. Most cerebral malformations involve aberrant axonal pathfinding; in holoprosencephaly, keratan sulfate abnormally ensheathes individual axons. Axonal pathfinding to near or distant target neurons is primordial for synaptic circuitry subserving normal and abnormal neurological functions including epilepsy.