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1.
Rev Neurol (Paris) ; 180(4): 251-255, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38388226

RESUMO

In childhood absence epilepsy, pharmaco-resistance occurs in 20-30% of patients. In that situation, glucose transporter type 1 deficiency has to be ruled out, especially if absences started before the age of four years and if neurological signs are present. If ethosuximide, valproate and lamotrigine have failed in monotherapy or in association, there are currently no valuable therapeutic options. The same rules apply for epilepsy with myoclonic absences. Importantly, arguments supporting that making the patient seizure-free will improve eventual associated cognitive deficits such as attention deficit are very weak. Therefore, limiting the cognitive side effects of the anti-epileptic drugs has always to be a priority when faced with typical refractory absences in childhood. In epilepsy with eyelid myoclonia, the majority of patients are pharmaco-resistant. However, absence seizures, if present, tend to be very brief, and seizures are limited in many patients to eyelid myoclonia that eventually do not affect their quality of life and are well attenuated by wearing blue lenses. Atypical absences occurring in the course a developmental and/or epileptic encephalopathy are often pharmaco-resistant. In that situation, characterizing the type of epilepsy syndrome and searching for a specific genetic or structural etiology are needed to offer the best therapeutic options to the patient.


Assuntos
Anticonvulsivantes , Epilepsia Resistente a Medicamentos , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/tratamento farmacológico , Criança , Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Pré-Escolar , Convulsões/tratamento farmacológico , Convulsões/etiologia
2.
Arch Pediatr ; 26(2): 118-119, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30655046

RESUMO

Opsoclonus consists of massive erratic rapid eye jerks. They may occur in isolation or in association with myoclonus and ataxia, i.e., opsoclonus-myoclonus syndrome (OMS). We report the case of a 9-year-old girl who suffered from headaches for several days and was shown to have opsoclonus and left peripheral facial palsy. Work-up excluded the diagnosis of neuroblastoma, but CSF analysis showed aseptic meningitis, and serology for Borrelia burgdorferi (Lyme) was positive. The outcome was favorable with complete regression of symptoms after treatment with ceftriaxone 2g/day for 3 weeks. Although rare, the diagnosis of Lyme neuroborreliosis must be raised in the presence of isolated opsoclonus, particularly if the clinical picture is incomplete and if other features, such as peripheral facial palsy and pleocytosis in the CSF, are present.


Assuntos
Borrelia burgdorferi/isolamento & purificação , Neuroborreliose de Lyme/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Criança , Feminino , Humanos , Neuroborreliose de Lyme/complicações
3.
Arch Pediatr ; 24(5): 483-491, 2017 May.
Artigo em Francês | MEDLINE | ID: mdl-28351601

RESUMO

Organic mental disorders are different and further revealed by increasingly advanced research. They are nevertheless misunderstood, without consensus, and raise clinical, diagnostic, and therapeutic questions. These disorders require effective collaboration between practitioners such as pediatricians and child psychiatrists. The subject should not disappear behind the complexity related to the clinical expression of these symptoms. Based on three cases of autoimmune encephalitis, we offer a reflection on the management and assessment of these diseases by a multidisciplinary team with the intention of providing optimal management. The aim of this paper is to override an initial divide posed by a particular clinical presentation. We would like to shed light on the place and legitimacy of child psychiatrists and their clinical expertise. This does not exclude the need for care of the symptoms, considering each subject and her experience. Follow-up is necessary because of the possible, often traumatic, functional and psychological consequences. Finally, the presence of each professional should be specified when the psychiatric symptoms appear to be the result of an organic disease in order to better support the subject in his suffering body.


Assuntos
Doenças Autoimunes/diagnóstico , Doenças Autoimunes/terapia , Encefalite/diagnóstico , Encefalite/terapia , Comunicação Interdisciplinar , Colaboração Intersetorial , Transtornos Neurocognitivos/diagnóstico , Transtornos Neurocognitivos/terapia , Adolescente , Anticorpos Antinucleares/sangue , Encéfalo/diagnóstico por imagem , Encéfalo/imunologia , Criança , Psiquiatria Infantil , Diagnóstico Diferencial , Feminino , Humanos , Imunização Passiva , Imunossupressores/uso terapêutico , Iodeto Peroxidase/imunologia , Imageamento por Ressonância Magnética , Canais de Potássio de Abertura Dependente da Tensão da Membrana/imunologia , Receptores de N-Metil-D-Aspartato/imunologia
4.
Arch Pediatr ; 22(5): 544-6, 2015 May.
Artigo em Francês | MEDLINE | ID: mdl-25819632

RESUMO

INTRODUCTION: Approximately 40 cases of acute idiopathic velopharyngeal reversible paralysis in the pediatric population have been reported in the literature. OBSERVATION: We present the case of a 12-year-old boy who had consulted in pediatric emergency departments for symptomatology including rhinolalia, nasal regurgitation, and deviation of the labial commissure. Paraclinical explorations helped diagnose rhombencephalitis with enterovirus. The introduction of oral corticosteroids was followed by rapid clinical improvement in 3 days. Monitoring 1 month later showed complete regression of symptoms. DISCUSSION: Similar cases in the literature describe the occurrence of nasal regurgitation and rhinolalia, sometimes associated with other cranial nerve impairment. The pathogenesis is rarely highlighted and the imaging results are always normal. Ad integrum recovery with or without corticosteroids is the rule. In light of this literature review, it is possible to conclude that the occurrence of such a suggestive clinical picture should limit the often costly and unnecessary additional tests.


Assuntos
Doenças dos Nervos Cranianos/diagnóstico , Encefalite Viral/diagnóstico , Infecções por Enterovirus/diagnóstico , Paralisia/diagnóstico , Rombencéfalo , Insuficiência Velofaríngea/diagnóstico , Administração Oral , Corticosteroides/uso terapêutico , Criança , Doenças dos Nervos Cranianos/tratamento farmacológico , Encefalite Viral/tratamento farmacológico , Infecções por Enterovirus/tratamento farmacológico , Doenças do Nervo Facial/diagnóstico , Doenças do Nervo Facial/tratamento farmacológico , Doenças do Nervo Glossofaríngeo/diagnóstico , Doenças do Nervo Glossofaríngeo/tratamento farmacológico , Humanos , Masculino , Paralisia/tratamento farmacológico , Resultado do Tratamento , Doenças do Nervo Vago/diagnóstico , Doenças do Nervo Vago/tratamento farmacológico , Insuficiência Velofaríngea/tratamento farmacológico
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