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1.
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
2.
Arch Pediatr ; 27(2): 104-106, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31955955

RESUMO

Hypocalcemia is known to induce stridor but was rarely reported to cause strabismus. We report the case of a 4-year-old girl who presented with paroxysmal stridor and strabismus with diplopia, persisting for several weeks. Severe hypocalcemia (1.25 mmol/L) was finally diagnosed and was related to hypoparathyroidism, which was the first manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in this patient. Strabismus and stridor both resolved after normalization of calcemia. This case report is a rare observation of paroxysmal strabismus caused by hypocalcemia and it highlights the importance of calcium monitoring in any situation of atypical neurological symptoms.


Assuntos
Hipocalcemia/etiologia , Poliendocrinopatias Autoimunes/diagnóstico , Sons Respiratórios/etiologia , Estrabismo/etiologia , Pré-Escolar , Feminino , Humanos
4.
Arch Pediatr ; 17(3): 226-32, 2010 Mar.
Artigo em Francês | MEDLINE | ID: mdl-20117919

RESUMO

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p<0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies.


Assuntos
Síndrome Acrocalosal/diagnóstico , Resultado da Gravidez , Diagnóstico Pré-Natal , Aborto Eugênico , Síndrome Acrocalosal/patologia , Corpo Caloso/patologia , Erros de Diagnóstico , Feminino , França , Humanos , Recém-Nascido , Masculino , Gravidez , Prognóstico , Estudos Retrospectivos
5.
Arch Pediatr ; 16(8): 1133-6, 2009 Aug.
Artigo em Francês | MEDLINE | ID: mdl-19500954

RESUMO

INTRODUCTION: Seven cases of pneumococcal meningitis caused by serotypes covered by the available vaccine occurred in France in vaccinated children, 4 of which were caused by serotype 19F. CASE REPORT: A 3-year-old child, who had received 3 doses of the 7-valent pneumococcal conjugate vaccine Prevenar but not the 4th injection, presented with bacterial meningitis after acute media otitis. The identified bacterium was a 19F serotype of Streptococcus pneumoniae. COMMENTS: This vaccine failure was characterized by an immune memory installation defect and underscores the necessity of the booster dose of vaccine during the 2nd year of life to acquire rates of protective and lasting antibodies. Serotype 19F of S. pneumoniae is particular since, despite good immunogenecity, it induces antibodies with weak avidity. We describe a case of pneumococcal meningitis caused by 19F serotype S. pneumoniae, which is included in the vaccine, in an immunocompetent child. Such events should be inventoried. They can reveal rates of antibodies that are very weak defenders, in spite of the vaccination, reflecting the absence of implementation of immunizing memory. Furthermore, an underlying immune deficit must be ruled out.


Assuntos
Imunização Secundária/efeitos adversos , Imunocompetência/imunologia , Meningite Pneumocócica/etiologia , Vacinas Pneumocócicas/efeitos adversos , Sorotipagem , Streptococcus pneumoniae/imunologia , Antibacterianos/uso terapêutico , Anticorpos Antibacterianos/sangue , Pré-Escolar , Quimioterapia Combinada , Vacina Pneumocócica Conjugada Heptavalente , Humanos , Memória Imunológica/imunologia , Masculino , Meningite Pneumocócica/diagnóstico , Meningite Pneumocócica/tratamento farmacológico , Meningite Pneumocócica/imunologia , Otite Média/complicações , Otite Média/diagnóstico , Otite Média/tratamento farmacológico , Otite Média/imunologia , Infecções Pneumocócicas/complicações , Infecções Pneumocócicas/diagnóstico , Infecções Pneumocócicas/tratamento farmacológico , Infecções Pneumocócicas/imunologia , Vacinas Pneumocócicas/administração & dosagem , Vacinas Pneumocócicas/imunologia
6.
Arch Pediatr ; 13(12): 1486-94, 2006 Dec.
Artigo em Francês | MEDLINE | ID: mdl-17137765

RESUMO

UNLABELLED: Malignant neonatal tumors are rare and comprise 2% of childhood malignancies. Clinical features, histologic types, prognosis were very different from those seen in older children, facing oncologists with diagnostic, therapeutic and ethical problems. PATIENTS AND METHODS: In a retrospective study from January 1987 to January 2004, we reviewed the management of neonates treated at the Institute Gustave Roussy for a malignant solid tumor for whom symptoms started in the first month of life. RESULTS: Seventy-one neonates were treated, comprising 1,2% of the overall patients treated during the same period of time. Of these 71 patients, 42 (59%) presented with neuroblastomas, 12 (17%) with mesenchymal tumors, 6(8%) with cerebral tumors and 11 with various other types of tumors. Fifty-nine patients underwent surgical resection. Thirty-eight neonates received chemotherapy, administered at a 30 to 50% reduced dose. Hematologic toxicities and infections were the main therapeutic complications. Very small doses of radiotherapy were used in only 5 children. There has been no therapy-related mortality. Twenty-two of the 57 survivors have sequelae, especially patients with intraspinal neuroblastoma. The 5 year overall survival was 79%. CONCLUSIONS: Neonatal malignant solid tumors, except for cerebral tumors, have a good prognosis. The young age of patients resulted in problems of treatment tolerance. The therapeutic regimen should take into account the risk of acute iatrogenic toxicity and long term sequelae. Surgery remains the treatment of choice but chemotherapy, with dose reduction, managed by expert teams, is essential and safer in a lot of case.


Assuntos
Neoplasias Encefálicas/epidemiologia , Mesenquimoma/epidemiologia , Neuroblastoma/epidemiologia , Adolescente , Fatores Etários , Antineoplásicos/uso terapêutico , Encéfalo/patologia , Neoplasias Encefálicas/congênito , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Feminino , França/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Mesenquimoma/diagnóstico , Mesenquimoma/tratamento farmacológico , Mesenquimoma/mortalidade , Mesenquimoma/patologia , Mesenquimoma/cirurgia , Estadiamento de Neoplasias , Neuroblastoma/diagnóstico , Neuroblastoma/tratamento farmacológico , Neuroblastoma/mortalidade , Neuroblastoma/patologia , Neuroblastoma/radioterapia , Neuroblastoma/cirurgia , Diagnóstico Pré-Natal , Prognóstico , Dosagem Radioterapêutica , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Análise de Sobrevida
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