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1.
Neuromuscul Disord ; 21(6): 379-86, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21440438

RESUMO

Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS). We describe three children whose clinical and electrophysiological findings originally suggested CMS, in whom CNM was diagnosed pathologically, though not yet genetically characterised. A fourth case, with XLMTM, also showed electrophysiological features of a neuromuscular transmission defect. Three (including the XLMTM case) showed improved strength with acetylcholinesterase inhibitor treatment. We also studied neuromuscular junction structure and function in the MTM1 knockdown zebrafish model of XLMTM, demonstrating abnormal neuromuscular junction organization; anticholinesterase therapy resulted in marked clinical response. These observations suggest that a neuromuscular transmission defect may accompany CNM and contribute to muscle weakness. Muscle biopsy should be considered in infants suspected to have CMS, especially if treatment response is incomplete, or no CMS gene mutation is identified. Treatment with acetylcholinesterase inhibitors may benefit some CNM patients. This warrants further confirmation.


Assuntos
Inibidores da Colinesterase/uso terapêutico , Miopatias Congênitas Estruturais/tratamento farmacológico , Miopatias Congênitas Estruturais/fisiopatologia , Junção Neuromuscular/fisiopatologia , Transmissão Sináptica/fisiologia , Adolescente , Animais , Biópsia , Criança , Inibidores da Colinesterase/farmacologia , Modelos Animais de Doenças , Eletromiografia , Feminino , Técnicas de Inativação de Genes , Humanos , Lactente , Masculino , Músculo Esquelético/patologia , Miopatias Congênitas Estruturais/genética , Junção Neuromuscular/efeitos dos fármacos , Proteínas Tirosina Fosfatases não Receptoras/genética , Brometo de Piridostigmina/farmacologia , Brometo de Piridostigmina/uso terapêutico , Transmissão Sináptica/efeitos dos fármacos , Resultado do Tratamento , Peixe-Zebra , Proteínas de Peixe-Zebra/genética
2.
Eur J Paediatr Neurol ; 14(6): 479-87, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20089428

RESUMO

AIMS: To define the incidence, describe presentation, management and outcome and identify prognostic factors in Acquired Transverse Myelopathy (ATM) in children under 16 years. METHODS: A prospective population-based surveillance study, involving all consultant paediatric neurologists in the United Kingdom from 1 July 2002 to 30 June 2004. RESULTS AND DISCUSSION: Response rate was 91%, and 60 children were reported, of whom 41 were included. Median age was 9 years. The incidence of ATM in children under 16 years in confirmed cases is at least 1.72 per million children per year. There was a previously unrecognised male predominance (M:F 25:16). Early evaluation of bladder function is sometimes omitted. MR imaging should include whole spine and brain to maximise diagnostic information. Despite the use of high dose steroids, 25% of cases were left with significant sequelae. Outcome data was available for 36 children in whom recovery was defined as 'complete' in 19, 'good' in 8, 'fair' in 3 and 'poor' in 6. Significant positive prognostic factors were preceding infection, start of recovery within a week of onset, age less than 10 years, and lumbosacral spinal level on clinical assessment. Significant negative predictors were flaccid legs at presentation, sphincter involvement and rapid progression from onset to nadir within 24h.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Mielite Transversa , Adolescente , Fatores Etários , Criança , Pré-Escolar , Planejamento em Saúde Comunitária , Deficiências do Desenvolvimento/terapia , Feminino , Humanos , Lactente , Estimativa de Kaplan-Meier , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Mielite Transversa/diagnóstico , Mielite Transversa/epidemiologia , Mielite Transversa/terapia , Estudos Retrospectivos , Resultado do Tratamento , Reino Unido/epidemiologia
3.
Eur J Paediatr Neurol ; 14(2): 178-81, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19541513

RESUMO

Five patients with spontaneously recovering Dancing Eye Syndrome/Opsoclonus Myoclonus Syndrome are described. Age at presentation ranged from 4 to 19 months. Four had symptoms of fever and a coryzal illness within days to a few weeks prior to the onset. One of the 4 also had varicella zoster 4 weeks before presentation. All had opsoclonus, myoclonus/ataxia and irritability. Associated infective agents identified were Coxsackie virus and rotavirus. Spontaneous improvement of symptoms started within 9 days of presentation and total duration of illness ranged from 10 to 24 days. Developmental progress at follow-up was normal in all cases. A range of immunomodulatory therapies have been advocated for the treatment of Dancing Eye Syndrome/Opsoclonus Myoclonus Syndrome. However, in some children, early spontaneous recovery may occur, an observation which should be borne in mind when designing therapeutic trials in this condition.


Assuntos
Encéfalo/fisiologia , Desenvolvimento Infantil/fisiologia , Síndrome de Opsoclonia-Mioclonia/complicações , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Recuperação de Função Fisiológica , Remissão Espontânea , Anti-Infecciosos/uso terapêutico , Ataxia/complicações , Infecções por Coxsackievirus/complicações , Infecções por Coxsackievirus/tratamento farmacológico , Infecções por Coxsackievirus/virologia , Feminino , Humanos , Fatores Imunológicos/uso terapêutico , Lactente , Recém-Nascido , Masculino , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Infecções por Rotavirus/complicações , Infecções por Rotavirus/tratamento farmacológico , Infecções por Rotavirus/virologia
4.
Eur J Paediatr Neurol ; 14(2): 156-61, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19423368

RESUMO

The incidence, mode of presentation and management of Dancing Eye Syndrome/Opsoclonus-Myoclonus Syndrome (DES/OMS) was prospectively evaluated in 20 United Kingdom (UK) paediatric neurology centres by questionnaire over a 24-month period between 2003 and 2005. Nineteen children were notified, giving an incidence of 0.18 cases per million total population per year. Mean age at presentation was 18 months (range 3-42 months). Fifteen families consented to participate in the study. Atypical features were present in 6/15 cases including very delayed presentation of opsoclonus, dysphagia, and rapid spontaneous improvement without treatment. Only 4/15 cases were associated with neuroblastoma (NB) but current practice in excluding this is diverse and a standardised approach is suggested.


Assuntos
Síndrome de Opsoclonia-Mioclonia/epidemiologia , Síndrome de Opsoclonia-Mioclonia/terapia , Neoplasias Abdominais/epidemiologia , Neoplasias Abdominais/patologia , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/patologia , Catecolaminas/urina , Pré-Escolar , Transtornos de Deglutição/epidemiologia , Feminino , Humanos , Incidência , Lactente , Imageamento por Ressonância Magnética , Masculino , Neuroblastoma/epidemiologia , Neuroblastoma/patologia , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Prevalência , Estudos Prospectivos , Remissão Espontânea
5.
J Clin Neurosci ; 14(11): 1049-54, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17822902

RESUMO

All 253 children receiving neurosurgical intervention for hydrocephalus (HCP) at a single British Neurosurgical Unit over a decade were investigated by retrospective case note review. Referral rates and mean age at presentation remained stable throughout, as did proportions of children presenting due to myelomeningocoele or meningitis. Comparing the first and second halves of the decade, the predominant aetiologies (intraventricular haemorrhage [IVH] at <1 year and brain tumour at 1-16 years) reduced from comprising half (70/129) of all cases to just over one-third (43/124). Other significant changes included a 45% reduction in neonatal IVH and a 179% increase in rare miscellaneous disorders. Outcome after 4 years of follow-up for all patients showed 44.4% without deficit, 11.9% with non-cognitive neurological deficits only, 11.5% with cognitive impairment only, 13.5% with both cognitive and neurological impairments, and 15.5% mortality.


Assuntos
Hidrocefalia , Derivação Ventriculoperitoneal/estatística & dados numéricos , Adolescente , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/epidemiologia , Hemorragia Cerebral/complicações , Hemorragia Cerebral/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Hidrocefalia/epidemiologia , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Incidência , Lactente , Masculino , Meningite/complicações , Meningite/epidemiologia , Meningomielocele/complicações , Meningomielocele/epidemiologia , Morbidade , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento
6.
Dev Med Child Neurol ; 48(1): 58-9, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16359595

RESUMO

Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement. A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported. Cranial MRI showed no tumours. A pathogenic mutation was identified on NF2 gene analysis. The child developed hypertension due to renal vascular disease. Although renal vascular disease is a recognized complication of neurofibromatosis type 1 (NF1), it has not been reported in NF2.


Assuntos
Hipertensão Renovascular/complicações , Neurofibromatose 2/complicações , Pressão Sanguínea , Genes da Neurofibromatose 2 , Humanos , Lactente , Masculino , Mutação , Neurofibromatose 2/genética
7.
Neuromuscul Disord ; 14(4): 253-60, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15019703

RESUMO

Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen storage disease type IV presents with rapidly progressive liver cirrhosis and death in childhood. Variants include a cardiopathic form of childhood, a relatively benign myopathic form of young adults, and a late-onset neurodegenerative disorder (adult polyglucosan body disease). A severe neuromuscular variant resembling Werdnig-Hoffmann disease has also been described in two patients. The objective was to describe two additional infants with the neuromuscular variant and novel mutations in the GBE1 gene. Branching enzyme assay, Western blot, RT-PCR and sequencing were performed in muscle biopsies from both patients. The cDNA of patient 1 was subcloned and sequenced to define the mutations. Muscle biopsies showed accumulation of periodic acid Schiff-positive, diastase-resistant storage material in both patients and increased lysosomal enzyme activity in patient 1. Branching enzyme activity in muscle was negligible in both patients, and Western blot showed decreased branching enzyme protein. Patient 1 had two single base pair deletions, one in exon 10 (1238delT) and the other in exon 12 (1467delC), and each parent was heterozygous for one of the deletions. Patient 2 had a large homozygous deletion that spanned 627 bp and included exons 8-12. Patient 1, who died at 41 days, had neurophysiological and neuropathological features of Spinal Muscular Atrophy. Patient 2, who died at 5(1/2) weeks, had a predominantly myopathic process. The infantile neuromuscular form of glycogen storage disease type IV is considered extremely rare, but our encountering two patients in close succession suggests that the disease may be underdiagnosed.


Assuntos
Doença de Depósito de Glicogênio Tipo IV , Músculo Esquelético/patologia , Doenças Neuromusculares , Enzima Ramificadora de 1,4-alfa-Glucana/metabolismo , Ácido Aminossalicílico/metabolismo , Biópsia/métodos , Western Blotting/métodos , Tronco Encefálico/enzimologia , Tronco Encefálico/patologia , Análise Mutacional de DNA/métodos , Éxons , Feminino , Doença de Depósito de Glicogênio Tipo IV/complicações , Doença de Depósito de Glicogênio Tipo IV/genética , Doença de Depósito de Glicogênio Tipo IV/metabolismo , Humanos , Lactente , Oxirredutases Intramoleculares , Lisossomos/enzimologia , Microscopia Eletrônica/métodos , Músculo Esquelético/enzimologia , Músculo Esquelético/metabolismo , Músculo Esquelético/ultraestrutura , Mutação , Doenças Neuromusculares/enzimologia , Doenças Neuromusculares/patologia , Prostaglandina-E Sintases , RNA Mensageiro/biossíntese , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/patologia , Transativadores/genética
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