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1.
J Fr Ophtalmol ; 47(7): 104202, 2024 May 08.
Artigo em Francês | MEDLINE | ID: mdl-38723375

RESUMO

PURPOSE: Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists. METHODS: Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included. RESULTS: Twenty-six (16 girls) with confirmed myasthenia and ocular symptoms were included. Ten patients had definite autoimmune myasthenia gravis (AIMG); 6 had suspected AIMG with negative antibody testing. Six patients had definite congenital myasthenic syndrome (CMS); 4 had suspected CMS with no evidence of mutation. Mean age at diagnosis of myasthenia was 5 years-3 years and 5 months for CMS and 6 years and 3 months for AIMG. Male to female (M:F) ratio was 6/10 for autoimmune myasthenia gravis and 4/6 for CMS. Ptosis was present in all cases; strabismus in 21 patients (68%). The clinical forms of myasthenia were ocular myasthenia in 12 patients (10 AIMG and 2 CMS), generalized in 12 patients (7 CMS and 5 AIMG) and secondary generalization of ocular myasthenia in 2 patients (2 AIMG). DISCUSSION: These results are based on only 26 cases, which can be explained by the rarity of this diagnosis in children. As in adults, the first signs are often ophthalmologic - ptosis alone or associated with strabismus. Diagnosis is difficult because of the absence of clinical signs, laboratory tests or electrophysiological signs with high sensitivity. Thus, the work-up may remain completely negative in secondarily proven forms. In addition, electroneuromyograms and oculomotor recordings in small children are more difficult to perform than in adults. For these reasons, the clinical examination is essential. In the case of strong suspicion, all additional medical examinations are carried out in a day unit, in order to reach a positive diagnosis of myasthenia. The so-called "congenital" forms, which are genetic, are proportionately higher than in adults, and diagnosis and treatment are often more difficult than in the classic autoimmune forms. CONCLUSION: Myasthenia can affect children from a very young age and can present as ptosis, initially isolated or associated with strabismus. Diagnosis and treatment may be difficult and should be organized in specialized centers.

2.
Arch Pediatr ; 31(1): 26-31, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37989659

RESUMO

BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the anterior horn cells of the spinal cord. Nusinersen for the treatment of SMA has been covered by public healthcare in France since May 2017. OBJECTIVE: Our aim was to investigate whether there is a correlation between clinical and compound motor action potential (CMAP) measurements in SMA patients treated with nusinersen after 3  years' follow-up. METHOD: Motor skills were evaluated regularly between M0 and M36 using the Motor Function Measure (MFM) score. CMAP measurements were collected regularly between M0 and M22. RESULTS: Data for 10 patients with SMA type 2 were collected and divided into two age groups (< 5 years and > 5 years). Motor function improved, but not significantly, regarding distal motor skills (D3) in both groups, and in axial and proximal motor function (D2) in the younger group. CMAP measurements improved in all patients. CMAP increased significantly for the median nerve, and this improvement correlated significantly with global MFM and with axial and proximal tone (D2). CONCLUSION: Our study shows gain in distal motor function with nusinersen, especially in younger patients with SMA type 2. These results encourage the screening of SMA patients and treatment as early as possible. CMAP measurements of the median nerve show clear improvement in patients treated with nusinersen and could be performed as routine follow-up.


Assuntos
Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Humanos , Pré-Escolar , Potenciais de Ação , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/tratamento farmacológico , Oligonucleotídeos/uso terapêutico , Atrofias Musculares Espinais da Infância/tratamento farmacológico
3.
Neuromuscul Disord ; 33(4): 309-314, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36881951

RESUMO

Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2). In Cohort 1, median CMAP amplitudes showed the best improvement between baseline and the 12 months visit compared to the other tested nerves (ulnar, fibular and tibial). High median CMAP amplitudes at baseline was associated with unaided sitting achievement at M6 (AUC 90%). None of the patients with CHOPINTEND at M0 < 30/64 and median CMAP < 0.5 mV achieved unaided sitting at M6 and this result was confirmed on Cohort 2 used as an independent validation data. Thus, median CMAP amplitude is a valid biomarker for routine practice to predict sitting at M6. A median CMAP amplitude over 0.5 mV at baseline may predict better motor recovery.


Assuntos
Atrofias Musculares Espinais da Infância , Criança , Humanos , Potenciais de Ação/fisiologia , Atrofias Musculares Espinais da Infância/genética , Neurônios Motores/fisiologia , Terapia Genética , Músculos
4.
Clin Neurophysiol ; 132(5): 1126-1137, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33773177

RESUMO

OBJECTIVE: We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15). METHODS: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m.o to 17y4m (median follow-up 8y3m), were retrospectively reviewed. EEGs were analyzed visually and using power spectrum analysis. RESULTS: Seventy video-EEGs were analyzed (1-16 per patient, median 6), follow-up lasting up to 8y10m (median 4y2m): 25 EEGs in intdup15 (8 m.o to 12y.o, median 4y6m) and 45 EEGs in idic15 (7 m.o to 12 y.o, median 15 m). Epilepsy: 6 West syndrome (WS) (2intdup15, 4idic15); 4 Lennox-Gastaut syndromes (LGS) (1 intdup15, 3 idic15), 2 evolving from WS; focal epilepsy (3 intdup15). In idic15, WS displayed additional myoclonic seizures (3), atypical (4) or no hypsarrhythmia (2) and posterior predominant spike and polyspike bursts (4). Beta-band rapid-rhythms (RR): present in 11 patients, power decreased during non-REM-sleep, localization shifted from diffuse to anterior, peak frequency increased with age. CONCLUSION: WS with peculiar electro-clinical features and LGS, along with beta-band RR decreasing in non-REM-sleep and shifting from diffuse to anterior localization with age are recognizable features pointing towards dup15q diagnosis in children with autism spectrum disorder and developmental delay. SIGNIFICANCE: This study describes electroclinical features in both interstitial and isodicentric duplications of chromosome 15q, in epileptic children, including some recent extensions regarding sleep features; and illustrates how the temporo-spatial organization of beta oscillations can be of significant help in directing towards dup15q diagnosis hypothesis.


Assuntos
Ritmo beta , Transtornos Cromossômicos/fisiopatologia , Epilepsia/fisiopatologia , Deficiência Intelectual/fisiopatologia , Trissomia/fisiopatologia , Adolescente , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Epilepsia/genética , Feminino , Humanos , Lactente , Masculino , Sono , Vigília
5.
Eur J Neurol ; 28(2): 660-669, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33051934

RESUMO

BACKGROUND AND PURPOSE: To describe a large series of patients with α, ß, and γ sarcoglycanopathies (LGMD-R3, R4, and R5) and study phenotypic correlations and disease progression. METHODS: A multicentric retrospective study in four centers in the Paris area collecting neuromuscular, respiratory, cardiac, histologic, and genetic data. The primary outcome of progression was age of loss of ambulation (LoA); disease severity was established according to LoA before or after 18 years of age. Time-to-event analysis was performed. RESULTS: One hundred patients (54 γ-SG; 41 α-SG; 5 ß-SG) from 80 families were included. The γ-SG patients had earlier disease onset than α-SG patients (5.5 vs. 8 years; p = 0.022) and ß-SG patients (24.4 years). Axial muscle weakness and joint contractures were frequent and exercise intolerance was observed. At mean follow-up of 22.9 years, 65.3% of patients were wheelchair-bound (66.7% α-SG, 67.3% γ-SG, 40% ß-SG). Dilated cardiomyopathy occurred in all sarcoglycanopathy subtypes, especially in γ-SG patients (p = 0.01). Thirty patients were ventilated and six died. Absent sarcoglycan protein expression on muscle biopsy and younger age at onset were associated with earlier time to LoA (p = 0.021 and p = 0.002). Age at onset was an independent predictor of both severity and time to LoA (p = 0.0004 and p = 0.009). The α-SG patients showed genetic heterogeneity, whereas >90% of γ-SG patients carried the homozygous c.525delT frameshift variant. Five new mutations were identified. CONCLUSIONS: This large multicentric series delineates the clinical spectrum of patients with sarcoglycanopathies. Age at disease onset is an independent predictor of severity of disease and LoA, and should be taken into account in future clinical trials.


Assuntos
Sarcoglicanopatias , Adolescente , Seguimentos , Homozigoto , Humanos , Músculo Esquelético , Estudos Retrospectivos , Sarcoglicanopatias/epidemiologia , Sarcoglicanopatias/genética , Sarcoglicanas/genética
6.
Arch Pediatr ; 27(7S): 7S15-7S17, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33357591

RESUMO

Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory involvement predominates in the intercostal muscles, and sometimes brainstem involvement are all serious aspects of the disease. Type I spinal muscular atrophy has been subdivided into 3 groups: - type IA, the clinical signs of which set in between birth and 15 days of life with sudden severe motor impairment, sucking-swallowing disorders attesting to bulbar involvement, respiratory distress. - type IB with onset of symptoms before the age of 3 months, which implies no head control - type IC starting between 3 and 6 months with the possibility of checking head control, often referred to as "I bis" by French practitioners. The development and use of innovative therapies in recent years does actually change the natural course of this disease. But we do not know for sure what the long-term evolution of infants who received these new therapies will be. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.


Assuntos
Atrofias Musculares Espinais da Infância , Diagnóstico Diferencial , Progressão da Doença , Humanos , Lactente , Recém-Nascido , Prognóstico , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/terapia
7.
Arch Pediatr ; 27(7S): 7S18-7S22, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33357592

RESUMO

Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration are functional and orthopaedic, respiratory, nutritional, socio-professional, and psychological. The implementation of standardized care (i.e., standard of care recommendations) has improved the quality of life and survival outcome of patients. The emergence of innovative therapies, some of which are now available, should further improve the clinical evolution of this disease. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.


Assuntos
Atrofias Musculares Espinais da Infância/diagnóstico , Adolescente , Criança , Desenvolvimento Infantil , Pré-Escolar , Progressão da Doença , Humanos , Lactente , Qualidade de Vida , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/terapia
8.
Arch Pediatr ; 27(7S): 7S45-7S49, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33357598

RESUMO

Spinal Muscular Atrophy (SMA) is a severe complex disorder involving different aspects of care and professionals. Helping individuals to achieve their best possible quality of life is an essential part of health care. A multidisciplinary approach to management across the range of actors improves the function, quality of life and longevity of patients with SMA. Multidisciplinary management should be designed to address the psychosocial challenges of patients with prolonged survival and novel therapies. In this part, we focus on multidisciplinary management of SMA, pluridisciplinary consultations, emergency management, psychosocial care and transitions to adulthood. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.


Assuntos
Equipe de Assistência ao Paciente , Qualidade de Vida/psicologia , Atrofias Musculares Espinais da Infância/psicologia , Atrofias Musculares Espinais da Infância/terapia , Terapia Combinada , Humanos , Atrofias Musculares Espinais da Infância/fisiopatologia , Transição para Assistência do Adulto
9.
Arch Pediatr ; 21(4): 347-54, 2014 Apr.
Artigo em Francês | MEDLINE | ID: mdl-24630620

RESUMO

AIM: Questions about care practices and the role of palliative care in pediatric neurodegenerative diseases have led the Neuromuscular Committee of the French Society of Neurology to conduct a retrospective study in spinal muscular atrophy type 1, a genetic disease most often leading to death before the age of 1 year. MATERIAL AND METHODS: A retrospective multicenter study from pediatricians included in the reference centers of pediatric neuromuscular diseases was carried out on two 10-year periods (1989-1998 and 1999-2009). RESULTS: The 1989-1998 period included 12 centers with 106 patients, the 1999-2009 period 13 centers with 116 children. The mean age of onset of clinical signs was 2.1 months (range, 0-5.5 months), the median age at diagnosis was 4 months (range, 0-9 months) vs 3 months. The median age of death was 7.5 months (range, 0-24 months) vs 6 months. The care modalities included physiotherapy (90 %), motor support (61 % vs 26 % for the previous period), enteral nutrition by nasogastric tube (52 % vs 24 %), and 3.4 % of children had a gastrostomy (vs 1.8 %). At home, pharyngeal aspiration was used in 64 % (vs 41 %), oxygen therapy in 8 %, noninvasive ventilatory support in 7 %. The mean age at death was 8.1 months (range, 0-24 months) vs 7 months, the time from diagnosis to death was 4 months vs 3 months. Death occurred at home in 23 % vs 17 %, in a pediatric unit in 62 % vs 41 %. The use of analgesics and sedative drugs was reported in 60 % of cases: 40 % morphine (vs 18 %) and benzodiazepines in 48 % (vs 29 %). Respiratory support was limited mostly to oxygen by nasal tube (55 % vs 54 %), noninvasive ventilation in 9 % of the cases, and intubation and assisted mechanical ventilation (2 %). DISCUSSION AND CONCLUSION: These results confirm a change in practices and the development of palliative care in children with a French consensus of practices quite different from the standard care in North-America and closer to the thinking of English medical teams. A prospective study within the 2011 national hospital clinical research program (PHRC 2011) is beginning in order to evaluate practices and the role of families and caregivers.


Assuntos
Cuidados Paliativos , Atrofias Musculares Espinais da Infância/terapia , Nutrição Enteral/métodos , Terapia por Exercício , Feminino , França , Gastrostomia , Humanos , Lactente , Recém-Nascido , Masculino , Ventilação não Invasiva , Oxigenoterapia , Cuidados Paliativos/métodos , Estudos Retrospectivos , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/mortalidade , Análise de Sobrevida
10.
Eur J Med Genet ; 56(12): 683-5, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24095819

RESUMO

STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy. We report a patient who presented late onset infantile spasms. Epilepsy was controlled but the patient developed severe mental delay. A first diagnosis of mitochondrial disease was based on clinical presentation and on a partial deficit of respiratory chain complex IV, but molecular screening for mitochondrial genes was negative. The sequencing of STXBP1 gene found a de novo nonsense mutation (c.585C>G/p.Tyr195X). This observation widens the clinical spectrum linked to STXBP1 mutations with the description of a patient with late onset infantile spasms. It raises the question of the value of epilepsy genes screening in patients with uncertain, partial or unconfirmed mitochondrial dysfunction.


Assuntos
Códon sem Sentido , Complexo IV da Cadeia de Transporte de Elétrons/genética , Deficiência Intelectual/genética , Proteínas Munc18/genética , Espasmos Infantis/genética , Ondas Encefálicas , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Síndrome de Lennox-Gastaut , Masculino , Espasmos Infantis/diagnóstico
11.
Biochim Biophys Acta ; 1822(6): 1062-9, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22326555

RESUMO

Isolated complex I deficiency is a frequent cause of respiratory chain defects in childhood. In this study, we report our systematic approach with blue native PAGE (BN-PAGE) to study mitochondrial respiratory chain assembly in skin fibroblasts from patients with Leigh syndrome and CI deficiency. We describe five new NDUFS4 patients with a similar and constant abnormal BN-PAGE profile and present a meta-analysis of the literature. All NDUFS4 mutations that have been tested with BN-PAGE result in a constant and similar abnormal assembly profile with a complete loss of the fully assembled complex I usually due to a truncated protein and the loss of its canonical cAMP dependent protein kinase phosphorylation consensus site. We also report the association of abnormal brain MRI images with this characteristic BN-PAGE profile as the hallmarks of NDUFS4 mutations and the first founder NDUFS4 mutations in the North-African population.


Assuntos
Complexo I de Transporte de Elétrons/genética , Doença de Leigh/genética , Doenças Mitocondriais/genética , NADH Desidrogenase/genética , Encéfalo/patologia , Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Complexo I de Transporte de Elétrons/deficiência , Complexo I de Transporte de Elétrons/metabolismo , Feminino , Fibroblastos/metabolismo , Humanos , Lactente , Doença de Leigh/metabolismo , Doença de Leigh/patologia , Masculino , Mitocôndrias/genética , Mitocôndrias/metabolismo , Doenças Mitocondriais/metabolismo , Doenças Mitocondriais/patologia , Mutação , Fosforilação , Pele/metabolismo
12.
Mol Genet Metab ; 104(4): 507-16, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21914562

RESUMO

BACKGROUND: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit (PDHA1) while a few cases result from mutations in genes for E1ß (PDHB), E2 (DLAT), E3 (DLD) and E3BP (PDHX) subunits or PDH-phosphatase (PDP1). AIM: To report molecular characterization of 82 PDHc-deficient patients and analyze structural effects of novel missense mutations in PDHA1. METHODS: PDHA1 variations were investigated first, by exon sequencing using a long range PCR product, gene dosage assay and cDNA analysis. Mutation scanning in PDHX, PDHB, DLAT and DLD cDNAs was further performed in unsolved cases. Novel missense mutations in PDHA1 were located on the tridimensional model of human E1 protein to predict their possible functional consequences. RESULTS: PDHA1 mutations were found in 30 girls and 35 boys. Three large rearrangements, including two contiguous gene deletion syndrome were identified. Novel missense, frameshift and splicing mutations were also delineated and a nonsense mutation in a mosaic male. Mutations p.Glu75Ala, p.Arg88Ser, p.Arg119Trp, p.Gly144Asp, p.Pro217Arg, p.Arg235Gly, p.Tyr243Cys, p.Tyr243Ser, p.Arg245Gly, p.Pro250Leu, p.Gly278Arg, p.Met282Val, p.Gly298Glu in PDHA1 were predicted to impair active site channel conformation or subunit interactions. Six out of the seven patients with PDHB mutations displayed the recurrent p.Met101Val mutation; 9 patients harbored PDHX mutations and one patient DLD mutations. CONCLUSION: We provide an efficient stepwise strategy for mutation screening in PDHc genes and expand the growing list of PDHA1 mutations analyzed at the structural level.


Assuntos
Substituição de Aminoácidos , Piruvato Desidrogenase (Lipoamida)/genética , Doença da Deficiência do Complexo de Piruvato Desidrogenase/genética , Adolescente , Sequência de Bases , Domínio Catalítico , Células Cultivadas , Criança , Pré-Escolar , Feminino , Fibroblastos/enzimologia , Fibroblastos/metabolismo , Dosagem de Genes , Humanos , Ligação de Hidrogênio , Mutação INDEL , Lactente , Recém-Nascido , Masculino , Dados de Sequência Molecular , Complexo Piruvato Desidrogenase/química , Complexo Piruvato Desidrogenase/genética , Complexo Piruvato Desidrogenase/metabolismo , Análise de Sequência de DNA
13.
J Med Genet ; 47(11): 729-35, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20679665

RESUMO

BACKGROUND: In type I congenital disorders of glycosylation (CDG I), proteins necessary for the biosynthesis of the lipid-linked oligosaccharide (LLO) required for protein N-glycosylation are defective. A deficiency in guanosine diphosphate-mannose: GlcNAc(2)-PP-dolichol mannosyltransferase-1 (MT-1) causes CDG Ik (OMIM 608540), and only five patients, with severe multisystemic clinical presentations, have been described with this disease. Objective To characterise genetic, biochemical and clinical data in five new CDG Ik cases and compare these findings with those of the five previously described patients. Methods LLO biosynthesis was examined in skin biopsy fibroblasts, mannosyltransferases were assayed in microsomes prepared from these cells, and ALG1-encoding MT-1 was sequenced at the DNA and complementary DNA levels. Clinical data for the five new patients were collated. RESULTS: Cells from five patients with non-typed CDG I revealed accumulations of GlcNAc(2)-PP-dolichol, the second intermediate in the biosynthesis of LLO. Assay of MT-1, -2 and -3, the first three mannosyltransferases required for extension of this intermediate, demonstrated only MT-1 to be deficient. DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations are severe, with dysmorphias, CNS involvement and ocular disturbances being prevalent. CONCLUSIONS: 5 patients with CDG Ik are described, and their identification reveals that in France, this disease and CDG Ib (mannose phosphate isomerase deficiency: OMIM 602579) are the most frequently diagnosed CDG I after CDG Ia (phosphomannomutase 2 deficiency: OMIM 601785) and substantiate previous observations indicating that this disease presents at the severe end of the CDG I clinical spectrum.


Assuntos
Defeitos Congênitos da Glicosilação/genética , Manosiltransferases/genética , Mutação , Sequência de Bases , Células Cultivadas , Pré-Escolar , Defeitos Congênitos da Glicosilação/classificação , Análise Mutacional de DNA , Éxons/genética , Feminino , Fibroblastos/metabolismo , Fibroblastos/patologia , Humanos , Lactente , Lipopolissacarídeos/biossíntese , Masculino , Manosiltransferases/deficiência , Manosiltransferases/metabolismo
14.
J Inherit Metab Dis ; 30(5): 642-53, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17879144

RESUMO

Although they are classically viewed as paediatric diseases, it is now recognized that inborn errors of metabolism (IEMs) can present at any age from childhood to adulthood. IEMs can involve the peripheral nervous system, mostly as part of a more diffuse neurological or systemic clinical picture. However, in some cases, the neuropathy can be the unique initial sign. Here, based on our personal experience and on a comprehensive literature analysis, we review IEMs causing neuropathies in adults. Diseases were classified according to the predominant type of neuropathies into (1) acute neuropathies, (2) mononeuropathy multiplex, (3) chronic axonal polyneuropathies, (4) chronic demyelinating polyneuropathies, (5) small-fibre neuropathies, and (6) lower motor neuron disease.


Assuntos
Erros Inatos do Metabolismo/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Doença Aguda , Adolescente , Adulto , Idade de Início , Doença Crônica , Árvores de Decisões , Doenças Desmielinizantes/etiologia , Diagnóstico Diferencial , Erros de Diagnóstico/prevenção & controle , Humanos , Erros Inatos do Metabolismo/classificação , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/epidemiologia , Pessoa de Meia-Idade , Mononeuropatias/etiologia , Doença dos Neurônios Motores/etiologia , Polineuropatias/etiologia , Terminologia como Assunto
16.
Arch Pediatr ; 14(9): 1137-51, 2007 Sep.
Artigo em Francês | MEDLINE | ID: mdl-17570648

RESUMO

The aim of this review is to focus on the nosological classification of neonatal "convulsions", to precise the underlying aetiologies and the prognosis, and to propose diagnostic and therapeutical approach. Seizures may be epileptic or not, they may be occasional, part of an epilepsy syndrome or associated to a metabolic disease. Electroencephalography plays a central role; it enables to confirm the epileptic nature of the ictal events, it allows to evaluate the prognosis and to guide the treatment decision, and sometimes may help in the etiological diagnosis. Work up should include cerebral imaging (MRI) completed by other exams according to the diagnostic hypothesis. It is essential to go as far as possible in the etiological work-up not to attribute convulsions to an occasional event as HIE in which criteria remain very strict, when convulsions could be due to genetic origin or to maternal pathology. Treatment decision should comprise different ways: treatment of the underlying cause, of the eventual associated pathologies, maintenance of vital functions and antiepileptic treatment. Phenobarbitone remains the first line drug in occasional seizures, and second line drugs for which further studies are needed both for immediate and long-term secondary effects. Besides occasional seizures epilepsy syndromes and metabolic diseases remain exceptional. Nevertheless recognition of these conditions allows to establish the prognosis and to start immediately with an appropriate and specific medication depending on the epilepsy syndrome and can contribute to a prenatal diagnosis. It is important to recognize the inborn errors of metabolism because emergency appropriate treatment is required. Prognosis which is generally bad is essentially related to the underlying aetiology and probably to the duration of the active period of seizures.


Assuntos
Convulsões/terapia , Anticonvulsivantes/uso terapêutico , Diagnóstico Diferencial , Eletroencefalografia , Humanos , Recém-Nascido , Fármacos Neuroprotetores/uso terapêutico , Prognóstico , Convulsões/diagnóstico , Convulsões/etiologia , Terminologia como Assunto
18.
Arch Pediatr ; 13(3): 266-8, 2006 Mar.
Artigo em Francês | MEDLINE | ID: mdl-16442787

RESUMO

Febrile seizures appearing during acute gastroenteritis have been described in japanese populations. These convulsions are not related to clinical signs of dehydration or electrolyte disorder. This entity was called CwG, benign Convulsions with mild Gastroenteritis. We report the case of a 19 month-old japanese boy who presented with a CwG. We described the characteristic clinical features of this entity and we reviewed the cases reported in literature. The evolution of the CwG is always simple without relapse or side effects. Better understanding will help pediatricians make more accurate diagnosis and avoid treatment even though initial signs might be severe.


Assuntos
Gastroenterite/complicações , Convulsões/etiologia , Seguimentos , Gastroenterite/diagnóstico , Humanos , Lactente , Japão/etnologia , Masculino , Convulsões/diagnóstico , Fatores de Tempo
19.
Arch Pediatr ; 11(12): 1465-7, 2004 Dec.
Artigo em Francês | MEDLINE | ID: mdl-15596336

RESUMO

Limb pain in children is one of the most frequent reasons to refer to the emergency unit. Most often it suggests an orthopaedic, a muscular, a peripheral neurologic or a spinal affection. We report two cases of recurrent limb pains revealing a central nervous system tumor.


Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias do Sistema Nervoso Central/diagnóstico , Dor , Neoplasias Encefálicas/fisiopatologia , Neoplasias do Sistema Nervoso Central/fisiopatologia , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino
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