RESUMO
BACKGROUND: Acute transverse myelitis (ATM) in children is a rare and often severe disease for which there are few known prognostic factors, particularly the subsequent risk of multiple sclerosis (MS) diagnosis. OBJECTIVES: To determine the clinical course and prognostic factors after a first episode of ATM in children. METHODS: Thirty children below 16 years of age diagnosed with a first neurological episode of ATM were included retrospectively. Clinical evaluation, treatment, laboratory, and MRI data were collected. RESULTS: Median age at onset was 11 years (range 3-15 years). Follow-up data were available for a median of 4 years (range 0.5-16.7 years). Five patients subsequently had a diagnosis of MS (17%), which was associated with acute partial transverse myelitis (odds ratio 5; 95% confidence interval 2.3-11), with a 60% probability of having a relapse at five years (p < 0.01). The 2011 Verhey criteria correctly identified MS in children with the highest specificity (96%) and sensitivity (80%). CONCLUSION: Acute partial transverse myelitis and brain MRI abnormalities at initial presentation are significantly predictive of a subsequent diagnosis of MS in children with ATM. These findings suggest that closer brain MRI monitoring after acute partial transverse myelitis might make the earlier introduction of disease-modifying therapies possible.
Assuntos
Encéfalo/patologia , Esclerose Múltipla/diagnóstico , Mielite Transversa/diagnóstico , Medula Espinal/patologia , Doença Aguda , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Esclerose Múltipla/complicações , Mielite Transversa/etiologia , Prognóstico , Estudos Retrospectivos , RiscoRESUMO
BACKGROUND: The first wave of the COVID-19 pandemic in France was associated with a reduced number of hospitalizations for self-harm, with the exception of older people. The on-going pandemic may have both sustained and delayed effects. METHODS: Data were extracted from the French national hospital database (PMSI), a nationwide exhaustive database. The number of self-harm hospitalizations (ICD-10 codes X60-84) between September 1, 2020 and August 31, 2021 (N = 85,679) was compared to 2019 (N = 88,782) using Poisson regression models. RESULTS: There was a decrease in the total number of self-harm hospitalizations during the studied period versus 2019 (-3.5%; Relative Risk [RR] [95% Confidence Intervals] = 0.97 [0.96-0.97]; p < 0.0001). However, sex and age effects were identified. While adults aged 30-59-years-old showed a decrease (monthly decreases: -12.6 to -15.0%), we found an increase in adolescent girls (+27.7%, RR = 1.28 [1.25-1.31]; p < 0.0001), notably since January 2021. Moreover, the numbers were similar to 2019 in adolescent boys, in youths aged 20-29 years, and in people aged 70 and more. Hospitalizations in intensive care units decreased (-6.7%, RR = 0.93 [0.91-0.96]; p < 0.0001) and deaths at hospital following self-harm remained stable (+0.6%, Hazard Ratio = 0.99 [0.91-1.08], p = 0.79). CONCLUSIONS: During this second stage, the number of self-harm hospitalizations remained at a lower level than in the prepandemic period. However, significant variations over time, age, and sex were observed. Young people (notably adolescent girls) appear to have particularly suffered from the persistence of the pandemic, while older people did not show any decrease since the beginning. Vigilance and continuing prevention are warranted.
Assuntos
COVID-19 , Comportamento Autodestrutivo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19/epidemiologia , Feminino , França/epidemiologia , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Estudos Retrospectivos , Comportamento Autodestrutivo/epidemiologiaRESUMO
BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) may be implicated in the immunopathogenesis of multiple sclerosis (MS) inducing demyelination in the animal model of MS. In adults reported anti-MOG antibody frequencies have been variable across a number of studies and can also be detected in controls. OBJECTIVE: To measure antibodies against MOG in paediatric patients with demyelinating disorders of the central nervous system and in controls. METHODS: Serum antibodies against MOG and myelin basic protein were measured by ELISA, flow cytometry (FACS) and in the liquid phase in 11 children with acute disseminated encephalomyelitis (ADEM), 22 children with MS, seven children with acute viral encephalitis and 13 healthy controls. The serostatus of Epstein-Barr virus (EBV) infections were assessed. RESULTS: Anti-MOG antibodies, measured either by ELISA or FACS were exclusively detected in children with demyelination. In ADEM these antibodies were highly reactive. Anti-MBP reactivity was detectable equally in all groups. The presence of either autoantibodies did not associate with EBV serostatus, age, gender or disease course. CONCLUSIONS: This study independently corroborates recently published results of seroprevalence and specificity of the assay. Due to their low sensitivity anti-MOG antibodies will not serve as disease-specific biomarkers, but could help to support the diagnosis of ADEM in difficult cases.
Assuntos
Autoanticorpos/sangue , Doenças Desmielinizantes/diagnóstico , Encefalite Viral/diagnóstico , Encefalomielite Aguda Disseminada/diagnóstico , Glicoproteína Associada a Mielina/imunologia , Adolescente , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Doenças Desmielinizantes/imunologia , Diagnóstico Diferencial , Encefalite Viral/imunologia , Encefalomielite Aguda Disseminada/imunologia , Ensaio de Imunoadsorção Enzimática , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/imunologia , Feminino , Citometria de Fluxo , França , Alemanha , Humanos , Imunidade Humoral , Masculino , Proteína Básica da Mielina , Proteínas da Mielina , Glicoproteína Mielina-Oligodendrócito , Proteínas do Tecido Nervoso/imunologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Transcrição/imunologiaRESUMO
BACKGROUND: A large number of studies have shown time perception impairment and reaction time (RT) variability in children with attention deficit hyperactivity disorder (ADHD), and have discussed the causes of such difficulties. However, very few studies have investigated time knowledge (i.e., the correct representation and use of time units) in children with ADHD. METHODS: We evaluated time knowledge in 33 children with ADHD, aged 8-12 years, who had consulted a reference center for learning disabilities in Paris, matched for age and gender with 33 typically developing (TD) children. We used a simple questionnaire-based survey and neuropsychological tests for cognitive and attentional skills. RESULTS: The acquisition of time knowledge was delayed in children with ADHD compared with TD children (P<0.01). At the end of primary school, children with ADHD obtained time knowledge scores that were close to those of TD children at the beginning of primary school. In children with ADHD, time knowledge was significantly related to the working memory index (P<0.05), but not to ADHD presentation (with or without hyperactivity). CONCLUSION: This study shows time knowledge impairment in children with ADHD, and paves the way for new screening tests and rehabilitation focused on time knowledge and time-related skills, in order to improve patient care and autonomy.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Cognição , Memória de Curto Prazo , Tempo , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Percepção do TempoRESUMO
INTRODUCTION: Behçet disease (BD) is a systemic vasculitis which can affect the neurological system. Neuro-Behçet's disease (NBD) is not well described in children. OBJECTIVE: Our study aimed to analyse the clinical patterns of paediatric NBD and to describe their repercussions on children's schooling. METHODS: We performed a retrospective chart review of 12 NBD children and a phone interview of patients and their physicians to investigate their last physical and schooling status. RESULTS: In 40 BD patients reviewed, 12 (sex ratio 8M/4F) had neurological involvement. The mean age of onset was 11 years. In 4 cases, neurological symptoms were the initial presentation. In other cases, NBD occurred within a mean time of 10 months after BD was diagnosed. Cerebral venous thromboses were frequent (5/12) as compared to recurrent meningoencephalitis (2/12), rhombencephalitis (2/12), transverse myelitis (1/12), peripheral neuropathy (1/12) or psychiatric disturbances (1/12). 9 patients had sequelae and 8 had difficulties in learning. 6 stopped at middle school level. For the other patients, an arrangement of the teaching environment was needed due to visual, auditory and concentration disorders. CONCLUSION: Neurological involvement is frequent in BD children and its consequences could be severe. Timely accommodations are required to facilitate their ability to follow the normal curriculum.
Assuntos
Síndrome de Behçet/patologia , Encéfalo/patologia , Adolescente , Atrofia , Síndrome de Behçet/fisiopatologia , Encéfalo/fisiopatologia , Criança , Escolaridade , Feminino , Humanos , Entrevistas como Assunto , Aprendizagem , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Instituições Acadêmicas , Trombose Venosa/patologia , Trombose Venosa/fisiopatologiaRESUMO
Pediatric MS is better understood after a series of epidemiological studies including the French cohort following almost 500 children since more than 7 years. Pediatric MS may have an onset as early as 2 years but symptoms are different than those at adolescence. Its evolution towards a motor handicap is slower than in adults but cognitive impairment have to be evaluated carefully. Interferon beta treatment can be use, if needed, even before the age of 10. Several environmental factors might increase its risk, especially early EBV infection or passive smoking. HBV vaccination does not increase significantly its risk of occurrence.
Assuntos
Esclerose Múltipla/terapia , Adolescente , Encéfalo/patologia , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , França/epidemiologia , Humanos , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/patologia , Esclerose Múltipla/fisiopatologiaRESUMO
PURPOSE: To describe the characteristics of a previously overlooked devastating epileptic encephalopathy that presents as intractable bilateral perisylvian epilepsy starting with prolonged status epilepticus (SE) in normally developing school-aged children. METHODS: Retrospective study over 7 years of all normally developing children admitted in our institution for a prolonged SE following non-specific febrile illness with at least one seizure recorded on EEG. RESULTS: Fourteen children were included at a median age of 7.5 years (4-11) (median follow-up of 4 years (1-7)). Intractable SE lasted 4-60 days (median 30). CSF cell count was normal in five cases and moderately increased in the others. During SE, seizures were recorded in 11 patients and involved temporal lobes in 7; the other 4 patients exhibited perisylvian clinical features with secondary generalization. Intractable epilepsy followed SE in all cases without any latent period. Persisting seizures were recorded in 10 patients and involved temporo-perisylvian regions in 8, frontal regions in 2; 3 others had perisylvian ictal semiology. Spiking was bilateral in 10 cases. MRI showed bilateral hippocampal hypersignal and/or atrophy in 10 cases (extended to the neocortex in 3). All children had major cognitive sequelae. When feasible (six patients), detailed neuropsychology suggested fronto-temporal impairment. CONCLUSIONS: Among so called grey matter encephalitis patients, we identified a recognizable pattern we propose to call Devastating Epileptic encephalopathy in School-age Children (DESC) that begins with prolonged SE triggered by fever of unknown cause, and persists as intractable perisylvian epilepsy with severe cognitive deterioration.
Assuntos
Cognição/fisiologia , Encefalite/etiologia , Epilepsia/etiologia , Estado Epiléptico/complicações , Anticonvulsivantes/uso terapêutico , Proteínas do Líquido Cefalorraquidiano/análise , Criança , Pré-Escolar , Resistência a Medicamentos , Eletroencefalografia , Encefalite/líquido cefalorraquidiano , Encefalite/fisiopatologia , Epilepsia/tratamento farmacológico , Febre de Causa Desconhecida/complicações , Humanos , Imageamento por Ressonância Magnética , Testes Neuropsicológicos , Prognóstico , Estudos RetrospectivosRESUMO
Lambert-Eaton myasthenic syndrome is a paraneoplasic syndrome which can reveal a primitive tumor. Frequently, the first diagnosis is myasthenia gravis. This disease is extremely rare in children. Only 10 cases have been reported in the last 35 years. We report 2 new observations occurring in very young patients, aged 2 and 3 years, with a ganglioneurobastoma as primitive tumor.
Assuntos
Neoplasias Encefálicas/diagnóstico , Ganglioneuroblastoma/diagnóstico , Síndrome Miastênica de Lambert-Eaton/etiologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Pré-Escolar , Evolução Fatal , Feminino , Ganglioneuroblastoma/diagnóstico por imagem , Ganglioneuroblastoma/cirurgia , Humanos , Masculino , Radiografia , Resultado do TratamentoRESUMO
West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year-old child with dihydropteridine reductase deficiency who developed hypsarrhythmia and infantile spasms which were documented on video-polygraphic EEG. Despite dietary restriction of phenylalanine, and oral administration of amine precursors, the initial course was unfavorable. A beneficial effect from hydrocortisone was then observed, with control of spasms and improvement of psychomotor delay.
Assuntos
Anti-Inflamatórios/uso terapêutico , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Epilepsias Mioclônicas , Hidrocortisona/uso terapêutico , Fenilcetonúrias , Anti-Inflamatórios/administração & dosagem , Anticonvulsivantes/administração & dosagem , Criança , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/enzimologia , Humanos , Hidrocortisona/administração & dosagem , Recém-Nascido , Masculino , Índice de Gravidade de Doença , Espasmos Infantis/diagnóstico , Resultado do Tratamento , Gravação em VídeoRESUMO
What is the balance of benefits and risks of dexamethasone in extremely immature infants? The answer remains unclear. We feel that the risks of "early" treatment outweigh the benefits, because many infants who would not develop CLD will be treated. Treatment between day 7 and day 14 seems more appropriate to us, as it focuses on infants with a high risk of developing CLD. However, the lungs may be already somewhat damaged when starting treatment, whose expected benefit is a shortened duration of mechanical ventilation and a decreased incidence of CLD. The risks for growth and brain development are not clearly assessed. Both 7-day courses and pulse therapy are effective, but no comparison of these 2 schedules has been published. We therefore do not know whether pulse therapy provides the same benefits as 7-day courses with fewer risks for growth or cardiomyopathy.
Assuntos
Anti-Inflamatórios/uso terapêutico , Dexametasona/uso terapêutico , Doenças do Prematuro/tratamento farmacológico , Pneumopatias/tratamento farmacológico , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/efeitos adversos , Doença Crônica , Dexametasona/administração & dosagem , Dexametasona/efeitos adversos , Humanos , Recém-NascidoRESUMO
AIM: We studied the use of premixed nitrous oxide and oxygen in 80 patients with neurologic diseases. PATIENTS AND METHODS: Mean ages ranged 10 +/- 5 yrs. Twenty-three patients (29%) were mentally retardated among which 17 of them presented with severe epilepsy. Painful procedures consisted of: lumbar punctures (80%), intravenous access (7), gastric endoscopy (6), skin biopsy (4), gastrostomy tube management (3). High-risk children were continuously monitored using ECG, non invasive blood pressure and transcutaneous oxygen saturation. We studied acceptation of the inhalation, vital signs, satisfaction of children, parents, medical and nursing staffs; side effects were compared with a group of healthy children undergoing venous access before induction of anesthesia. RESULTS AND DISCUSSION: Acceptation increased with age. No significant changes in vital signs variables were observed. Satisfaction rate regarding the method was 88% for all children, parents, physicians and nurses. No serious undesirable event (as respiratory depression, seizure, inhalation of gastric content) occurred in these patients. The more frequent side-effects were: drowsiness during and after inhalation (35 and 9% respectively in the handicapped patients); nausea and vomiting (8%), headaches (3%), were more frequent than reported in literature but there were 25% of meningitis among our patients. CONCLUSION: Premixed nitrous oxide and oxygen was effective for reducing procedural pain and anxiety in children with neurological disorders, even in severely handicapped patients, with minor side-effects.
Assuntos
Sedação Consciente/métodos , Nitrogênio/uso terapêutico , Oxigênio/uso terapêutico , Dor/tratamento farmacológico , Dor/etiologia , Administração por Inalação , Adolescente , Adulto , Biópsia/efeitos adversos , Cateterismo Periférico/efeitos adversos , Criança , Pré-Escolar , Sedação Consciente/efeitos adversos , Sedação Consciente/psicologia , Monitoramento de Medicamentos , Eletrocardiografia , Feminino , Gastroscopia/efeitos adversos , Gastrostomia/efeitos adversos , Humanos , Deficiência Intelectual/complicações , Masculino , Oximetria , Dor/diagnóstico , Dor/psicologia , Medição da Dor , Satisfação do Paciente , Punção Espinal/efeitos adversos , Resultado do TratamentoRESUMO
BACKGROUND: Symptomatic forms of hyperphenylalaninemia are rare in France since neonatal screening began. CASE REPORT: A child born in Algeria from consanguinous parents was referred at 2 years of age for a severe epileptic encephalopathy with hypotonia. Amino acid chromatography revealed hyperphenylalaninemia due to a dihydropteridine reductase deficiency. Dietary restriction of phenylalanine and oral administration of amine precursors, L-dopa and 5-hydroxytryptophan had poor efficiency on epilepsy and psychomotor delay. CONCLUSION: Diagnosis of hyperphenylalaninemia must be evoked in any children with progressive encephalopathy born in country where neonatal screening is not performed.
Assuntos
Biopterinas/metabolismo , Deficiências do Desenvolvimento/etiologia , Epilepsia/etiologia , Fenilalanina/sangue , Fenilcetonúrias , 5-Hidroxitriptofano/uso terapêutico , Argélia/etnologia , Anticonvulsivantes/uso terapêutico , Biopterinas/sangue , Biopterinas/urina , Encéfalo/patologia , Pré-Escolar , Consanguinidade , Deficiências do Desenvolvimento/tratamento farmacológico , Dietoterapia , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , França , Humanos , Levodopa/uso terapêutico , Imageamento por Ressonância Magnética , Masculino , Neopterina/sangueRESUMO
BACKGROUND: Alternating hemiplegia of childhood is a syndrome which begins in the first year of life. It is characterized by repeated attacks of uni-or bilateral hemiplegia or hemiparesia. In most cases paroxysmal manifestations are observed: movements or dystonia++ attacks, episodic nystagmus, abnormal eye movements and disturbance of the neurovegetative system, predominantly in the first year of life. ANALYSIS: In half of the cases, neurological anomalies begin during the neonatal period with a non characteristic aspect. Typical attacks take place after one year of life, sometimes associated with partial epilepsy. In a quarter of cases, the oculomotor anomalies have been known since early life. The diagnosis is made prior to one year on the basis of associated oculomotor anomalies and other symptoms without EEG arguments for epilepsy. Paroxysmal nystagmus is always found. One eye is affect in most cases, generally with horizontal and seldom with vertical movements of large variable pendular amplitude. One eye with nystagmus and the other with mydriasis is sometimes reported. Most attacks last from 30 sec to 3 min. Paroxysmal strabismus described in half of the cases seems to be generally unilateral internuclear transitory ophthalmoplegia. Finally, ocular deviations on the hemiparetic side are described. They are generally unique or sometimes associated with head deviation. Spontaneous blinking is reduced. CONCLUSION: Alternating hemiplegia of childhood is a non-epileptic sporadic, paroxysmal manifestation of unknown pathogenesis. Prognosis is poor. The presence of oculomotor signs suggests the diagnosis.
Assuntos
Hemiplegia/genética , Nistagmo Patológico/genética , Transtornos da Motilidade Ocular/genética , Diagnóstico Diferencial , Hemiplegia/diagnóstico , Humanos , Lactente , Recém-Nascido , Masculino , Nistagmo Patológico/diagnóstico , Transtornos da Motilidade Ocular/diagnóstico , Oftalmoplegia/diagnóstico , Oftalmoplegia/genética , Prognóstico , Estrabismo/diagnóstico , Estrabismo/genéticaRESUMO
UNLABELLED: The aim of this study was to analyse the outcome of optic pathway gliomas in 30 children with neurofibromatosis type 1, the indications of treatment, and the follow-up and screening protocol. PATIENTS AND METHODS: All patients with a minimal two years follow-up (median six years, range two to 19 years), in two multidisciplinary consultations of Saint-Vincent-de-Paul (Paris) and Purpan (Toulouse) hospitals, were included in the study. In our series, we practiced systematic screening MRI in children under six years' of age or with neuropsychological deficiency that may imply an unreliable ophthalmological examination. RESULTS: Thirty-seven percent (11 patients) had progressive ophthalmological signs and were treated, and 63% (19 patients) were not progressive. Our study confirmed that most of optic pathway gliomas were stable during evolution, but rare cases may have bad prognosis. CONCLUSION: Our study supported the importance of close ophthalmological follow-up during childhood for which screening methods are discussed. There is a consensus to limit treatment for patients with progressive ophthalmological symptoms.
Assuntos
Neurofibromatose 1/complicações , Glioma do Nervo Óptico/etiologia , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Glioma do Nervo Óptico/patologia , Prognóstico , Estudos RetrospectivosRESUMO
OBJECTIVES: To differentiate onset of CNS involvement in primary hemophagocytic lymphohistiocytosis (HLH) from that of other CNS inflammatory diseases and to identify early symptoms linked to abnormal cognitive outcome. METHODS: Forty-six children with primary HLH who had neurologic evaluation within 2 weeks and brain MRI within 6 months of diagnosis were included. Initial symptoms, CSF study, brain MRI, and neurologic outcome were assessed. Brain MRIs were compared with those of 44 children with acute disseminated encephalomyelitis (ADEM). RESULTS: At disease onset, 29 children (63%) had neurologic symptoms and 7 (15%) had microcephaly. Twenty-three (50%) children had abnormal CSF study, but only 15 (33%) had abnormal brain MRI. The latter showed that patients with HLH, unlike patients with ADEM, had symmetric periventricular lesions, without thalamic and brainstem involvement and with infrequent hyposignal intensity on T1. At the end of follow-up (3.6 ± 3.6 years), 17 of the 28 (61%) surviving patients had normal neurologic status, 5 (18%) had a severe neurologic outcome, and 6 (21%) had mild cognitive difficulties. Abnormal neurologic outcome was not influenced by age or type of genetic defect, but by the presence of neurologic symptoms, MRI lesions, or abnormal CSF study at onset. Early clinical and MRI symptoms may regress after treatment. CONCLUSION: Neurologic symptoms are frequent at the onset of primary HLH and are mostly associated with abnormal CSF findings, but with normal brain MRI. In cases of abnormal brain MRI, the observed lesions differ from those of ADEM.
Assuntos
Encéfalo/patologia , Encéfalo/fisiopatologia , Linfo-Histiocitose Hemofagocítica/patologia , Linfo-Histiocitose Hemofagocítica/fisiopatologia , Adolescente , Líquido Cefalorraquidiano/metabolismo , Criança , Pré-Escolar , Transtornos da Consciência/etiologia , Diagnóstico Diferencial , Encefalomielite Aguda Disseminada/patologia , Encefalomielite Aguda Disseminada/fisiopatologia , Feminino , Seguimentos , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/líquido cefalorraquidiano , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/psicologia , Imageamento por Ressonância Magnética , Masculino , Prontuários Médicos , Meningismo/etiologia , Microcefalia/etiologia , Microcefalia/patologia , Microcefalia/fisiopatologia , Estudos Retrospectivos , Convulsões/etiologia , Resultado do TratamentoRESUMO
Multiple sclerosis can develop during childhood, even among children under 10 years of age, and the initial diagnosis can be difficult. A first demyelinating event in children may be an episode of monophasic acute disseminated encephalomyelitis or a first episode of a macrophage activation syndrome, angiitis affecting the central nervous system or MS. The risk of developing MS is lower if: the child is younger than 10 years old; onset is associated with severely altered consciousness; presentation is polysymptomatic; or there are large and poorly limited lesions of the white matter. MS in children probably has a slightly better outcome than MS in adults. Initial treatment mainly relies on methylprednisolone, and there is little information on the results of beta interferon treatment in children with MS.
Assuntos
Esclerose Múltipla/diagnóstico , Fatores Etários , Criança , Humanos , Esclerose Múltipla/fisiopatologia , Esclerose Múltipla/terapia , PrognósticoRESUMO
OBJECTIVE: Multiple sclerosis (MS) is by far the most popular diagnosis for patients with multifocal neurological disease. Owing to demyelinating inflammatory non-necrotic plaques of the white matter, MS can give remitting symptoms of virtually every part of the central nervous system. Corticosteroids are usually helpful. Devic's neuromyelitis optica (DNMO) is a neurological disease involving only the optic nerves and the spinal cord, where demyelination evolves towards necrosis and atrophy; the prognosis is poor and no satisfactory treatment is known. The objectives of this study are to describe clinical, biological, pathological and radiological data of patients with DNMO and to differentiate DNMO from MS. MATERIAL AND METHODS: We studied the files of 14 patients diagnosed with possible DNMO in three French hospitals between 1980 and 1999 and reviewed the literature. RESULTS: Nine patients were included as definite DNMO. Five were excluded because they did not fulfil the diagnostic criteria. For the nine patients with definite DNMO, DNMO was either monophasic or multiphasic. The prognosis was generally poor: two patients died and five others developed severe disability such as blindness, para or quadriplegia or both. Cerebrospinal fluid study and neuroimaging were essential to confirm the diagnosis of DNMO. Various immunosuppressive treatments generally failed to benefit the patients. CONCLUSION: In the literature (as well as our 14 initial patients) only a few cases of patients described as suffering from DNMO fulfilled the diagnostic criteria. The others showed evidence that another disease like MS was involved. We stress that inclusion and exclusion criteria have to be kept in mind to differentiate clearly DNMO from MS and other central nervous system white matter diseases.
Assuntos
Neuromielite Óptica/diagnóstico , Neuromielite Óptica/patologia , Nervo Óptico/patologia , Medula Espinal/patologia , Adolescente , Adulto , Líquido Cefalorraquidiano/imunologia , Criança , Doenças Desmielinizantes/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/patologia , Estudos RetrospectivosRESUMO
The myeloproliferative leukemia retrovirus (MPLV) has the v-mpl cellular sequences transduced in frame with the deleted and rearranged Friend murine leukemia virus env gene. The resulting env-mpl fusion oncogene is responsible for an acute myeloproliferative disorder induced in mice by MPLV. v-mpl is a truncated form of the c-mpl gene which encodes the receptor for thrombopoietin. We investigated the contribution of the Env-Mpl extracellular domain in the constitutive activation of this truncated cytokine receptor and found that the rearrangement of the env sequences in the env-mpl fusion gene was not required for oncogenicity. A pathogenic variant, DEL3MPLV, was generated, which differs from MPLV by the deletions of 22 amino acids of the Env signal peptide, all of the mature Env sequences, and 18 N-terminal amino acids of the v-Mpl extracellular domain. The resulting del3-mpl oncogene product conserves in its extracellular region the first 12 amino acids of the Env signal sequence including a cysteine residue, and 25 amino acids of the v-Mpl. We show here that a mutation converting this cysteine to a glycine completely abolishes del3-mpl oncogenicity and that the del3-mpl oncogene product is constitutively activated by disulfide-linked homodimerization.