RESUMO
Introducción: El síndrome de Werdnig-Hoffmann o atrofia espinal tipo I forma parte de las atrofias musculares espinales y es la más grave de las tres formas clínicas existentes. Tiene carácter hereditario autosómico recesivo, no tiene tratamiento, es de carácter progresivo y por lo general culmina con la muerte del paciente entre el primero y segundo año de vida. Objetivo: Describir la conducta de la vía respiratoria anatómicamente difícil conocida en un paciente con síndrome de Werdnig-Hoffmann operado de litiasis renal derecha. Caso clínico: Paciente masculino de 39 años de edad, nivel de escolaridad superior, con diagnóstico de litiasis obstructiva en riñón derecho, propuesto para realizar una nefrolitotomía percutánea. Los exámenes en la consulta de anestesia diagnosticaron una vía respiratoria anatómicamente difícil. Pese a contar con la colaboración del paciente, personal entrenado, equipamiento necesario y proceder según los algoritmos recomendados en la literatura, se necesitó una vía quirúrgica para realizar la operación. Se efectúo el proceder quirúrgico propuesto sin complicación y el paciente salió del quirófano despierto y consiente. Conclusión: De requerirse otra intervención quirúrgica, sería necesario iniciar la intubación mediante fibroscopía óptica para evitar el edema de las vías respiratorias. De no obtenerse una vía respiratoria segura por este método, el paciente precisaría una vía aérea quirúrgica(AU)
Introduction: Werdnig-Hoffmann disease or spinal atrophy type I is part of the spinal muscular atrophies and the most serious of the three clinical forms in existence. It is an autosomal recessive hereditary condition, with no treatment, progressive in nature and usually culminates with the death of the patient between the first and second year of life. Objective: To describe the behavior of the anatomically difficult airway identified in a patient with Werdnig-Hoffmann disease operated for right renal lithiasis. Clinical case: Male patient at age 39, higher education level, with a diagnosis of obstructive lithiasis in the right kidney, proposed to be performed a percutaneous nephrolithotomy. The exams in the anesthesia consultation provided diagnosis of an anatomically difficult airway. Despite having the cooperation of the patient, trained personnel, necessary equipment and proceeding according to the algorithms recommended in the literature, a surgical approach was needed to perform the operation. The proposed surgical procedure was carried out without complications and the patient left the operating room awake and conscious. Conclusion: In case that another surgical intervention is required, it would be necessary to initiate intubation by optical fibroscopy in order to avoid edema of the respiratory tract. In case a safe airway is not obtained by this method, the patient would need a surgical airway(AU)
Assuntos
Humanos , Masculino , Adulto , Atrofias Musculares Espinais da Infância/cirurgia , Atrofias Musculares Espinais da Infância/epidemiologia , Intubação , Anestesia/métodosRESUMO
BACKGROUND/PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, considered one of the leading causes of infant mortality. It is caused by mutations in the SMN1 gene. A highly homologous copy of this gene named SMN2 and other neighbouring genes, SERF1A and NAIP, are considered phenotypic modifiers of the disease. In recent years, notable advances have been made in SMA research regarding evaluation, prognosis, and therapeutic options. Thus, genotype-phenotype studies in SMA are important to stratify patients for motor function tests and for envisaged clinical trials. The aim of this study was to provide clinical and molecular data of a series of Argentinean children with SMA to establish a comprehensive genotype-phenotype correlation. METHODS: 144 Argentinean children with SMA (56 children with type I, 58 with type II, and 30 with type III) were evaluated. The copy number of SMN2, SERF1A, and NAIP genes was established using MLPA (Multiplex Ligation-dependent Probe Amplification) and then correlated with the patients clinical subtypes. To improve clinical characterization we considered the initial symptoms that prompted the consultation, age of acquisition of motor abilities to independent walking and age at loss of gait. We also evaluated clinical and molecular features of sibling pairs in seven families. RESULTS: A strong correlation was observed between the SMN2 copy number and SMA phenotype while SERF1A and NAIP copy number showed a moderate correlation. We observed intra- and inter-family differences among the SMA types. CONCLUSION: This first genotype-phenotype correlation study in Argentinean SMA children provides data to improve patient stratification and define more adequate follow-up parameters.
Assuntos
Atrofias Musculares Espinais da Infância/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Adolescente , Idade de Início , Argentina , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , Feminino , Dosagem de Genes , Genótipo , Humanos , Masculino , Proteínas do Tecido Nervoso/genética , Proteína Inibidora de Apoptose Neuronal/genética , Fenótipo , Estudos Retrospectivos , Atrofias Musculares Espinais da Infância/epidemiologia , Proteína 2 de Sobrevivência do Neurônio Motor/genética , Adulto JovemRESUMO
BACKGROUND: Spinal muscular atrophy is one of the most common neuromuscular disorders in children. Associated with progressive muscular weakness, it may assume a chronic course. In chronic disorders it is of utmost importance to determine the quality of life level. OBJECTIVE: To determine the level of quality of life in a cohort of SMA children and adolescents, and study its relation to motor ability. METHODS: From the children and adolescents with confirmed SMA diagnosis (presence of deletion) followed at a University Hospital, we selected those that were 4 years or older. They were classified as SMA type II or III according to their best motor ability, evaluated according to the modified Hammersmith functional score, and undertook the AUQEI Portuguese version to determine quality of life. This is an Institutional Review Board approved study and consent was given by all those included. RESULTS: Thirty-three children and adolescent with a mean age of 10.28 (± 4.71) took part of the study. The fourteen SMA type II had a mean Hammersmith score of 11 (± 9.50) and AUQEI of 55.85 (± 7.16), while the nineteen SMA type III scored 31.10 (± 12.30) and 52.94 (± 4.85). No significant difference was found when quality of life scores was compared among those groups. CONCLUSION: On a self-reported scale it seems that regardless the functional status an SMA child and adolescent has a perception of good quality of life.
Assuntos
Qualidade de Vida/psicologia , Autoavaliação (Psicologia) , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/psicologia , Adolescente , Brasil/epidemiologia , Criança , Pré-Escolar , Doença Crônica , Estudos de Coortes , Comorbidade/tendências , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/psicologia , Atrofias Musculares Espinais da Infância/epidemiologia , Adulto JovemRESUMO
The authors reviewed all cases of type I spinal muscular atrophy (SMA) in Cuba over a 6-year period. The incidence of SMA type I was 3.53 per 100,000 livebirths. When the population was classified according to self-reported ethnicity, the incidence was eight per 100,000 for whites; 0.89 per 100,000 for blacks, and 0.96 per 100,000 for those of mixed ethnicity. Type 1 SMA may occur less frequently in individuals of African ancestry.
Assuntos
Predisposição Genética para Doença/genética , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Atrofias Musculares Espinais da Infância/epidemiologia , População Negra/genética , Cromossomos Humanos Par 5/genética , Estudos de Coortes , Cuba/epidemiologia , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Análise Mutacional de DNA , Éxons/genética , Feminino , Testes Genéticos , Variação Genética/genética , Heterozigoto , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Mutação/genética , Proteínas do Tecido Nervoso/genética , Prevalência , Proteínas de Ligação a RNA/genética , Proteínas do Complexo SMN , Distribuição por Sexo , Atrofias Musculares Espinais da Infância/etnologia , Atrofias Musculares Espinais da Infância/genética , População Branca/genéticaRESUMO
INTRODUCTION: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by the degeneration of cells of the spinal cord. The gene was localized on chromosome 5q13 and exists in two almost identical forms, which are distinguished by the change of base on exones 7 and 8. Mutations of the gene of survival motoreneuron (SMN) are the cause of illness. CLINICAL CASE: We report, for the first time in Cuba, the prenatal diagnosis of a type II SMA carrier, using molecular methods for direct detection of the mutation on exones 7 and 8 of the SMN gene, and haplo-identification with microsatellite markers of chromosome 5q as an indirect method. A sample of amniotic liquid was taken at 18 weeks of gestation and the DNA extracted. No deletions were detected on exones 7 and 8 of the foetal DNA, which was therefore normal. CONCLUSIONS: Detection of deletions on the SMN gene is a method which permits detection of the condition (healthy or unhealthy) of the foetus, quickly and reliably, without requiring investigation of the entire family to obtain a result. The method does not require radio-active PCR, the results are clear and precise and may be obtained within 24 hours. It may also take the place of invasive methods such as muscle biopsy and electro-myography and contribute to genetic assessment in families in which there is no DNA of the affected child.