Annals of the Child Neurology Society最新文献

Systemic lupus erythematosus (SLE) is a heterogeneously presenting, chronic, multisystem autoimmune disease. Neurological manifestations of SLE can affect both central and peripheral nervous systems and are associated with reduced health-related quality of life and increased mortality.^1-3 While most neurological manifestations occur around the time of SLE diagnosis, they may precede diagnosis, creating diagnostic and therapeutic challenges. Mononeuritis multiplex (MNM) is a rare SLE manifestation, usually occuring years after diagnosis.⁴ We present an 11-year-old girl who presented with severe, rapidly progressive MNM due to SLE. This is the first report of MNM as the initial SLE manifestation in a pediatric patient, and only the second report of MNM at time of SLE diagnosis.⁵

This previously healthy 11-year-old girl presented with progressively worsening distal right leg pain, antalgic gait, and intermittent fever, preceded by recent influenza A infection. Her evaluation was significant for normocytic anemia, elevated inflammatory markers, and magnetic resonance imaging (MRI) suggestive of an inflammatory myopathy (Figure 1). The differential diagnosis included postinfectious reactive myositis versus new-onset chronic immune-mediated inflammatory disease. She was discharged on a prednisone taper with further evaluation pending.

Over the next month, her examination became progressively more abnormal, with increasingly severe distal upper and lower extremity weakness, pain, paresthesias, muscle atrophy, and gait instability. She developed bilateral claw hand deformity and foot drop, absent toe flexion and extension, and absent Achilles reflexes. Brain MRI demonstrated abnormal small T2 hyperintensity in the right lateral pons. Spine MRI and lumbar puncture were normal. Figure 1 shows bilateral lower extremity MRI, with abnormalities interpreted as myositis versus neurogenic atrophy.

Nerve conduction and electromyography demonstrated severe axonal sensory and motor neuropathy with asymmetric involvement, consistent with mononeuritis multiplex. The presence of this neuropathy and patchy myopathic changes supported clinical diagnosis of vasculitic neuropathy. Muscle biopsy of left vastus lateralis demonstrated neurogenic atrophy without perivascular or endomysial inflammation (Figure 2). However, as the biopsy was completed after an initial steroid course, potential inflammatory muscular findings may have been masked.

With a likely diagnosis of rapidly progressive MNM from vasculitic neuropathy, extensive multidisciplinary diagnostic evaluation for potential etiologies continued. Prior rheumatologic evaluation had been pertinent for positive antinuclear antibody, and despite any specific clinical manifestations for SLE outside of neurological disease, a full evaluation revealed high-titer positive SS-A antibody (>8.0 ai), positive dsDNA antibody, RNP

The most memorable presentations at the Child Neurology Society's annual meeting are typically the award lectures. The society's awards recognize substantially different spheres of achievement, so the award lectures differ greatly in their approach and focus. The Hower Award honors an individual with a record of service to society and substantive contributions to the field. The Sachs Lecturer delves deeply into a scientific topic of current interest. The Dodge Award recognizes a promising early career researcher, and the recently added Denkla Award highlights contributions within the field of human development. Each award lecture is unique, but together, they illustrate what makes child neurology such a remarkable field.

As extraordinary as these award lectures have been, only a few have been developed into publications. Most have simply vanished, leaving nothing more than the awardee's name in an archival list of prior award winners. These presentations provided an annual snapshot of the developing field, but we did not do a very good job of preserving them. One of the goals of Annals of the Child Neurology Society is to publish articles derived from the society's award presentations. Some oral presentations lend themselves to print conversion better than others, of course, so the aim is to capture the essence of each lecture rather than a mirror image of the meeting presentation.

This issue of Annals of the Child Neurology Society contains our first award-related article, a captivating discussion of the neurology of creativity by Phillip Pearl based on his 2023 Hower Award presentation in Vancouver.¹ Dr. Pearl knows a great deal about creativity, whether applied to scientific discovery or to his long-standing passion for music. But in the article, he also explores the thought patterns that promote creativity and delves deeply into its neurophysiologic basis. I attended Dr. Pearl's Hower Award lecture last year, but reading his article allowed me to grasp some of the finer points that escaped me during the presentation.

Pearl's splendid article also perfectly illustrates why we need to remember and preserve the society award lectures. These superb presentations remind us of the soaring heights we as a profession can achieve. They allow us to gauge our progress over time. They should be preserved and become part of our legacy.

E. Steve Roach: Conceptualization; project administration; writing–original draft; writing–review editing.

The author is the editor-in-chief of the Annals of the Child Neurology Society. The opinions expressed in this article are those of the author and do not reflect the official policy of the Child Neurology Society.

We describe a remarkable electroencephalographic (EEG) response in a boy with intractable epilepsy and developmental and epileptic encephalopathy (DEE). Although there are studies on seizure control with fenfluramine in patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), no publications on other DEEs exist. The dramatic EEG improvement following fenfluramine initiation has not been described in individuals with DS or LGS. Our report highlights these novel findings with the hope of encouraging more research into fenfluramine's use in patients with difficult-to-treat epilepsies and DEEs.

This 3-year-old, right-handed boy with intractable focal epilepsy and DEE was admitted to the epilepsy monitoring unit (EMU) for EEG characterization. His seizures began at age 2 years and initially occurred more than eight times per day. The predominant seizure type was described as generalized tonic to tonic-clonic, which initally occurred on average once per week. Other seizure types included hyperkinetic generalized tonic-clonic seizures, focal motor hemifacial clonic seizures, and frequent generalized myoclonic seizures.

His EEG studies revealed a disorganized and slow background with superimposed multifocal pleomorphic epileptiform discharges. While admitted to the EMU for seizure characterization, fenfluramine was initiated. The baseline EEG (Figure 1A,B) was similar to his prior EEG recordings and revealed samples of his awake and asleep EEG background. His magnetic resonance imaging scan was normal. Genetic testing, including an epilepsy gene panel and whole-exome sequencing, were nondiagnostic.

Previous medications included levetiracetam, ethosuximide, and valproic acid. Current medications consisted of Federal Drug Administration–approved cannabidiol, lacosamide, and clobazam at therapeutic doses.

The boy's history was remarkable for developmental delay, and his examination was otherwise nonfocal. During the EMU admission he was started on fenfluramine (0.2 mg/kg/day) as an adjunct to his current regimen. A baseline EEG recording was obtained on the first day of admission after which fenfluramine (0.2 mg/kg/day divided twice daily) was started, with a robust response noted on EEG within 24–48 hours of starting fenfluramine (Figure 2A,B).

We present a pediatric patient with refractory epilepsy and DEE who demonstrated a dramatic EEG response after the initiation of fenfluramine (0.2 mg/kg/day). Fenfluramine has shown efficacy in seizure control in patients with DS and LGS, but dramatic responses trending toward EEG normalization have not been described in these patients.^{1, 2} Interestingly, researchers studying the use of fenfluramine in sunflower syndrome also documented an EEG response as well as clinical improvement in several patients. One patient exhibited improved slowing, while focal background slowing improved in two patients. Additionally, epileptiform discharges resolved i

Thiamine (vitamin B1) deficiency has two forms, dry and wet beriberi. Wet beriberi involves the cardiovascular system. Dry beriberi involves the central nervous system and is associated with Wernicke encephalopathy (WE). The clinical triad of WE includes ophthalmoplegia, ataxia, and confusion. Although most common in older individuals, WE rarely occurs in the pediatric population, and many children have delayed diagnoses.¹ The likelihood of thiamine deficiency is also increased after gastric surgery due to increased loss or malabsorption of thiamine, poor dietary intake, and/or increased metabolic requirement. We describe an adolescent with recent sleeve gastrectomy who presented with subacute encephalopathy, neuropathy, and ataxia. She was promptly treated with thiamine supplementation for suspected thiamine deficiency.

This neurotypical adolescent girl presented to the emergency department (ED) after three days of encephalopathy, visual changes, dysarthria, ataxia, and paresthesias. She reported consuming an excessive amount of alcohol the night prior to the onset of her symptoms but denied other toxic ingestions. She had no fever or neck stiffness and denied bowel and bladder symptoms.

In the ED she was confused, prompting computed tomography of the head without contrast. She was started on dextrose-containing maintenance intravenous fluids (IV) within the first six hours of arrival. Neurology was consulted and performed an evaluation at bedside the morning after her arrival and obtained further history. She had undergone a sleeve gastrectomy in a foreign country six months earlier and admitted noncompliance with vitamin supplementation and nutritional guidelines.

Her vital signs were normal, and her general examination was notable only for an abdominal surgical scar. Her neurological examination was significant for fluctuating attentiveness requiring repetitive tactile stimulation, bilateral mydriasis, bilateral cranial nerve VI palsy, dysarthria, distal symmetric sensory deficits of her extremities, areflexia, and gait ataxia.

The patient was evaluated for toxic, metabolic, infectious disease, vascular, and autoimmune disorders (Table 1) because of her initial findings. Due to the encephalopathy, visual changes, and ataxia, there was high suspicion for thiamine deficiency. Within 12 hours of presentation, she was empirically started on IV thiamine 500 mg every eight hours for two days. The dose was decreased to 250 mg, given intravenously, daily for five days. Her symptoms improved within two days of starting thiamine supplementation, and her thiamine level returned to the lower range of normal. Due to improvement in examination with thiamine, no further interventions were performed. She was discharged home on oral thiamine 100 mg daily.

Although our patient's thiamine level was in the lower limit of normal, we do not have a baseline level prior to her sleeve gastrectomy for comparison

Our understanding of primary (idiopathic) intracranial hypertension has evolved in recent years. There have been efforts to rename the disorder as pseudotumor cerebri syndrome or primary intracranial hypertension. Some studies have suggested a higher threshold opening pressure to define intracranial hypertension. The reported annual incidence varies from 0.6 to 0.9 per 100 000 children around the world. Patients are typically divided into prepubertal and pubertal groups, with pubertal patients having the same risk factors as adults. Prepubertal patients do not share these risk factors. They are more likely to be asymptomatic, have equal gender distributions, and are less likely to be obese. Headache is the most common presenting complaint, followed by vision changes and nausea/vomiting. A newer concept of fulminant intracranial hypertension has emerged, defined as acute onset with rapid progression of visual deficits or papilledema. Quick insertion of a temporary lumbar drain as a bridge while medical management reaches effectiveness improves visual outcomes and helps avoid permanent shunt placement. Headache is typically the first symptom to resolve with treatment, and papilledema resolves in five to six months. Recurrence rates in children and adolescents range from 28.5% to 36.4%, with higher rates after puberty.