Investigations of myelin oligodendrocyte glycoprotein (MOG) antibodies are usually focused on demyelinating syndromes, but the entire spectrum of MOG antibody-associated syndromes in children is ...unknown. In this study, we aimed to determine the frequency and distribution of paediatric demyelinating and encephalitic syndromes with MOG antibodies, their response to treatment, and the phenotypes associated with poor prognosis.
In this prospective observational study, children with demyelinating syndromes and with encephalitis other than acute disseminated encephalomyelitis (ADEM) recruited from 40 secondary and tertiary centres in Spain were investigated for MOG antibodies. All MOG antibody-positive cases were included in our study, which assessed syndromes, treatment and response to treatment (ie, number of relapses), outcomes (measured with the modified Rankin scale mRS), and phenotypes associated with poor prognosis. We used Fisher's exact and Wilcoxon rank sum tests to analyse clinical features, and survival Cox regression to analyse time to antibody negativity.
Between June 1, 2013, and Dec 31, 2018, 239 children with demyelinating syndromes (cohort A) and 296 with encephalitis other than ADEM (cohort B) were recruited. 116 patients had MOG antibodies, including 94 (39%) from cohort A and 22 (7%) from cohort B; 57 (49%) were female, with a median age of 6·2 years (IQR 3·7–10·0). Presenting syndromes in these 116 patients included ADEM (46 68%), encephalitis other than ADEM (22 19%), optic neuritis (20 17%), myelitis (13 11%), neuromyelitis optica spectrum disorders (six 5%), and other disorders (nine 8%). Among the patients with autoimmune encephalitis in cohort B (n=64), MOG antibodies were more common than all neuronal antibodies combined (22 34% vs 21 33%). After a median follow-up of 42 months (IQR 22–67), 33 (28%) of the 116 patients had relapses, including 17 (17%) of 100 diagnosed at first episode. Steroids, intravenous immunoglobulin, or plasma exchange were used in 100 (86%) patients at diagnosis, and 32 (97%) of 33 at relapses. Rituximab was mainly used at relapses (11 33%). 99 (85%) of 116 patients had substantial recovery (mRS <2) and 17 (15%) moderate to severe deficits (mRS >2; one died). Phenotypes of poor prognosis included ADEM-like relapses progressing to leukodystrophy-like features, and extensive cortical encephalitis evolving to atrophy. Time to antibody negativity was longer in patients with relapses (HR 0·18, 95% CI 0·05–0·59).
The spectrum of paediatric MOG antibody-associated syndromes is wider than previously reported and includes demyelinating syndromes and encephalitis. Recognition of these disorders has important clinical and prognostic implications.
Mutua Madrileña Foundation; ISCIII–Subdirección General de Evaluación y Fomento de la Investigación Sanitaria; Fondo Europeo de Desarrollo Regional; Pediatrics Spanish Society; Departament de Salut, Generalitat de Catalunya; Marato TV3 Foundation; Red Española de Esclerosis Múltiple; La Caixa Foundation; and Fundació CELLEX.
We conducted an observational study from January 2016 through January 2017 of patients admitted to a reference pediatric hospital in Madrid, Spain, for neurologic symptoms and enterovirus infection. ...Among the 30 patients, the most common signs and symptoms were fever, lethargy, myoclonic jerks, and ataxia. Real-time PCR detected enterovirus in the cerebrospinal fluid of 8 patients, nasopharyngeal aspirate in 17, and anal swab samples of 5. The enterovirus was genotyped for 25 of 30 patients; enterovirus A71 was the most common serotype (21/25) and the only serotype detected in patients with brainstem encephalitis or encephalomyelitis. Treatment was intravenous immunoglobulins for 21 patients and corticosteroids for 17. Admission to the pediatric intensive care unit was required for 14 patients. All patients survived. At admission, among patients with the most severe disease, leukocytes were elevated. For children with brainstem encephalitis or encephalomyelitis, clinicians should look for enterovirus and not limit testing to cerebrospinal fluid.
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Dostopno za:
DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in children with severe psychomotor ...retardation who are fed by feeding device. The objetive of this study was to describe patients treated for this entity in our center, comparing them against the published literature.
Descriptive study of our patients and those found in the literature. Epidemiologic and clinical data were collected.
We describe seven patients (three to 17 years old) with severe psychomotor retardation and undergoing treatment with VPA. Four presented pathologic fractures before the diagnosis of FS, and in three patients the diagnosis was reached due to abnormal laboratory findings. A review of the published cases was carried out and, including our sample, a total of 42 patients were studied: 51.3% were male, and the median age at diagnosis of FS was 6 years. Severe psychomotor retardation was found in 92.8% of patients, 78% carried a feeding device, and 77.5% received treatment with several antiepileptic drugs. The mean duration of VPA treatment was 5.7 years (range 2 to 7.5 years). Fifteen patients (37.5%) had bone complications. The resolution time of FS after discontinuation of drug therapy ranged from two to 19 months (median 4 months).
FS related to VPA is a rare complication, but it should be considered in patients with epilepsy, especially if they have severe psychomotor retardation, are users of feeding devices, and receive other antiepileptic treatments in addition to VPA.
Anosmia and hypogeusia are frequent symptoms in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in adults, but their incidence in children is unknown.
Describe the incidence ...and associated characteristics of olfactory and gustatory dysfunction in children with SARS-CoV-2 infection.
Descriptive study carried out by telephone survey of patients aged between five and 18 years with SARS-CoV-2 infection confirmed between March and December, 2020.
Two hundred eighty Spanish patients (female: 42.2%) with a mean age of 10.4 years (±3.54, range: 5 to 17) were analyzed, 22.5% with other diseases (mostly respiratory: 11.8%). The most frequent symptoms were fever (55.36%) and neurological symptoms (45.7%). Forty-four (15.7%) were hospitalized due to the infection, in intensive care unit (ICU): 7.1%. Forty-five patients (16.1%) had anosmia and/or hypogeusia: 32 both, eight with hypogeusia only, and five with exclusively anosmia. The mean symptom duration in days for anosmia was 36.4, and for hypogeusia it was 27.6. Either symptom was the initial manifestation in 15 patients. None had anosmia/hypogeusia with no other symptoms. Anosmia/hypogeusia was related to the presence of respiratory infection, gastroenteritis, chills, odynophagia, myalgia, asthenia, and anorexia, but not severity (hospitalization/ICU admission). Cohabitation with another infected individual was associated with a higher incidence of anosmia/hypogeusia (P = 0.041) and duration of anosmia (P = 0.006). The presence of anosmia/hypogeusia in cohabitants was associated with longer duration of anosmia (P < 0.001).
The incidence of anosmia/hypogeusia in children with SARS-CoV-2 was lower than that reported in adults, although with a longer duration. Although no association was found between anosmia/hypogeusia and greater disease severity, recognition of these symptoms could help identify paucisymptomatic patients.
Efficacy of Brivaracetam in children with epilepsy Ferragut Ferretjans, Fernando; Soto Insuga, Víctor; Bernardino Cuesta, Beatriz ...
Epilepsy research,
November 2021, 2021-Nov, 2021-11-00, 20211101, Letnik:
177
Journal Article
Recenzirano
•As far as we know, our case report is the largest such study of children with refractory epilepsy in which the effects of BRV are analysed.•Despite the refractory epilepsy of our sample we have ...obtained a significant rate of positive responses.•In our report we showed than a failure to obtain a favourable response with LEV does not predict a lack of effectiveness with BRV.•According to our series of cases, BRV is a drug with a good tolerability and safety profile.
To determine the efficacy, tolerance, and safety of BRV in children with epilepsy.
A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up of 3 months.
Sixty-six patients were included in the study. Patients received BRV at a mean age of 8.8 years (range 1−16 years). The majority (93.4 %) had refractory epilepsy, 27 with epileptic encephalopathy. The median maximum dose used was 4.3 mg/kg/day. In 30.3 % of the cases, seizure frequency was reduced by over 50 %, and 9 % remained seizure-free. Greater efficacy was observed in those patients who received higher doses and when a direct switch from levetiracetam (LEV) to BRV was performed. The ineffectiveness of LEV was not related to a failure to respond to BRV treatment. Side effects were identified in 24.2 % of the cases, the most frequent being irritability and drowsiness.
BRV appears to be an effective, safe, and well-tolerated AED in children with refractory epilepsy.
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation ...c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward.
We describe three new patients, a woman and her two sons diagnosed with CAPOS syndrome. A systematic review of literature on previously reported patients was performed.
The first son presented with acute-onset ataxia, encephalopathy, and sensorineural hearing loss, induced by febrile illness. The second one developed generalized areflexia and mild instability without an acute episode. The mother had been previously diagnosed with sensorineural hearing loss and optic nerve atrophy. The c.2452G>A mutation in ATP1A3 was found in all three patients.
Only 25 Individuals with CAPOS syndrome have been reported, including our family. This is the first time a Spanish family has been described. The fact that both siblings were assessed before the first acute-onset episode contributes to the description of early symptoms and signs of the disease, which could aid early diagnosis and management before the onset of acute episodes.
There is growing evidence for inflammation as a cause and/or consequence of seizures in epilepsy as certain inflammatory biomarkers are elevated. Interleukin (IL)-6, with pro-inflammatory and ...epileptogenic effects, can perpetuate seizures. Clinical and experimental data support its involvement in acute refractory situations, with some cases responding to treatment with tocilizumab, a humanized monoclonal antibody against the IL-6 receptor. We describe 2 pediatric cases of refractory epilepsy with an abrupt debut responding to tocilizumab. Advances in the knowledge of inflammatory biomarkers involved in epilepsy and the targeted treatment could have important benefits, especially in cases that are refractory to usual treatments.
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•Neuroinflammation (primary or secondary) could play a key role in epileptogenesis.•IL-6 is a biomarker of inflammation potentially useful in refractory acute seizures.•Tocilizumab could be useful in refractory status epilepticus if IL-6 is elevated.•Development of targeted treatments could have high benefit in refractory epilepsy.
OBJECTIVE:To report 14 patients with immune-mediated relapsing symptoms post–herpes simplex encephalitis (HSE) and to compare the clinical and immunologic features of the teenage and adult group with ...those of young children.
METHODS:Prospective observational study of patients diagnosed between June 2013 and February 2015. Immunologic techniques have been reported previously.
RESULTS:Among the teenage and adult group (8 patients, median age 40 years, range 13–69; 5 male), 3 had an acute symptom presentation suggesting a viral relapse, and 5 a presentation contiguous with HSE suggesting a recrudescence of previous deficits. Seven patients developed severe psychiatric/behavioral symptoms disrupting all social interactions, and one refractory status epilepticus. Blepharospasm occurred in one patient. Five patients had CSF antibodies against NMDA receptor (NMDAR) and 3 against unknown neuronal cell surface proteins. In 5/6 patients, the brain MRI showed new areas of contrast enhancement that decreased after immunotherapy and clinical improvement. Immunotherapy was useful in 7/7 patients, sometimes with impressive recoveries, returning to their baseline HSE residual deficits. Compared with the 6 younger children (median age 13 months, range 6–20, all with NMDAR antibodies), the teenagers and adults were less likely to develop choreoathetosis (0/8 vs 6/6, p < 0.01) and decreased level of consciousness (2/8 vs 6/6, p < 0.01) and had longer delays in diagnosis and treatment (interval relapse/antibody testing 85 days, range 17–296, vs 4 days, range 0–33, p = 0.037).
CONCLUSION:In teenagers and adults, the immune-mediated relapsing syndrome post-HSE is different from that known in young children as choreoathetosis post-HSE and is underrecognized. Prompt diagnosis is important because immunotherapy can be highly effective.
Abstract
In this case report, we present the case of a 7-year-old male patient who started with diplopia and paralysis of the sixth unilateral cranial nerve after a severe acute respiratory syndrome ...coronavirus 2 (SARS-CoV-2) infection. The cranial resonance was normal and the cerebrospinal pressure was 32 cm H
2
O detected by lumbar puncture. The treatment with corticosteroids and acetazolamide was effective. This is the first case of idiopathic intracranial hypertension associated to SARS-CoV-2 probably due to immune-mediated process.
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