Annals of the Child Neurology Society最新文献

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.

A healthy and normally developing girl was born at 41 weeks via forceps-assisted vaginal delivery. Starting around 6 months of age, during meals (and especially when eating sour foods like citrus fruit), she routinely developed acute-onset flushing of the left cheek in a stereotyped linear pattern (Figure 1A and Video S1) and persisting into childhood (Figure 1B). This was not bothersome to her and was not associated with any systemic symptoms. The flushing completely disappeared within 30 min after eating. The Minor starch-iodine test showed no evidence of hyperhidrosis.¹

Auriculotemporal syndrome (“Frey syndrome”) is due to dysfunction of the auriculotemporal nerve (a branch of the mandibular division of the trigeminal nerve, V3). Mechanical injury to the nerve (e.g., during forceps-assisted birth or parotid gland surgery) leads to nerve regeneration with aberrant innervation of the sweat glands of the skin. Thus, activation of the parotid gland during meals induces skin flushing in a V3 distribution. In this patient, anticipatory guidance given to daycare providers helped preempt concerns about food allergies.

The pathophysiology of the syndrome was first described by Dr. Łucja Frey (1889–1942), a Polish physician and scientist who was murdered by the Nazis during World War II.^2-4

Audrey C. Brumback: Conceptualization; investigation; visualization; writing—original draft.

Audrey C. Brumback serves on the editorial board of Annals of the Child Neurology Society.