ABSTRACT
SUMMARY Introduction Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord dysfunction in adult patients. Patients generally present with a slow, progressive neurological decline or a stepwise deterioration pattern. In this paper, we discuss the most important factors involved in the management of DCM, including a discussion about the surgical approaches. Method The authors performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives. Results Although the diagnosis is clinical, magnetic resonance imaging (MRI) is the study of choice to confirm stenosis and also to exclude the differential diagnosis. The severity the clinical symptoms of DCM are evaluated by different scales, but the modified Japanese Orthopedic Association (mJOA) and the Nürick scale are probably the most commonly used. Spontaneous clinical improvement is rare and surgery is the main treatment form in an attempt to prevent further neurological deterioration and, potentially, to provide some improvement in symptoms and function. Anterior, posterior or combined cervical approaches are used to decompress the spinal cord, with adjunctive fusion being commonly performed. The choice of one approach over the other depends on patient characteristics (such as number of involved levels, site of compression, cervical alignment, previous surgeries, bone quality, presence of instability, among others) as well as surgeon preference and experience. Conclusion Spine surgeons must understand the advantages and disadvantages of all surgical techniques to choose the best procedure for their patients. Further comparative studies are necessary to establish the superiority of one approach over the other when multiple options are available.
RESUMO Introdução a mielopatia cervical degenerativa (MCD) é uma das causas mais comuns de disfunção medular em adultos. Os pacientes em geral apresentam declínio neurológico lento e progressivo, ou deterioração escalonada. No presente artigo, discutimos os mais importantes fatores envolvidos no manejo da MCD, incluindo considerações sobre os aspectos relacionados à escolha da abordagem cirúrgica. Método realizou-se extensa revisão da literatura de artigos peer-reviewed relacionados ao tema. Resultados embora o diagnóstico seja realizado clinicamente, a ressonância magnética (RM) é o estudo de imagem de escolha para confirmá-lo e excluir eventuais diagnósticos diferenciais. A gravidade do quadro clínico pode ser avaliado utilizando-se diferentes escalas, como a modified Japanese Orthopedic Association (mJOA) ou a de Nürick, provavelmente as mais comuns. Uma vez que a melhora clínica espontânea é rara, a cirurgia é a principal forma de tratamento, em uma tentativa de evitar dano neurológico adicional ou deterioração e, potencialmente, aliviar alguns sintomas e melhorar a função dos pacientes. Abordagens cirúrgicas por via anterior, posterior ou combinada podem ser usadas para descomprimir o canal, concomitantemente a técnicas de fusão. A escolha da abordagem depende das características dos pacientes (número de segmentos envolvidos, local de compressão, alinhamento cervical, cirurgias prévias, qualidade óssea, presença de instabilidade, entre outras), além da preferência e experiência do cirurgião. Conclusão os cirurgiões de coluna devem compreender as vantagens e desvantagens de todas as técnicas cirúrgicas para escolher o melhor procedimento para seus pacientes. Estudos futuros comparando as abordagens são necessários para orientar o cirurgião quando múltiplas opções forem possíveis.
Subject(s)
Humans , Spinal Cord Diseases/surgery , Heredodegenerative Disorders, Nervous System/surgery , Spinal Cord Diseases/diagnosis , Severity of Illness Index , Cervical Vertebrae/surgery , Decompression, Surgical/methods , Heredodegenerative Disorders, Nervous System/diagnosis , Laminectomy/methodsABSTRACT
The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.
Subject(s)
Brain Diseases, Metabolic/diagnosis , Child , Diagnosis, Differential , Emergencies , Hepatolenticular Degeneration/diagnosis , Heredodegenerative Disorders, Nervous System/diagnosis , Humans , India , Infant , Infant, Newborn , Maple Syrup Urine Disease/diagnosis , Menkes Kinky Hair Syndrome/diagnosis , Metabolism, Inborn Errors/diagnosis , Phenylketonurias/diagnosisABSTRACT
Unstable mutations or amplification of DNA tandem repeats sequences constitute a new kind of genetic alteration discovered in the 90's that cause hereditary diseases. This mutation has been found inside or near important genes involved in the normal neurological function in human beings. In some cases, the presence of the amplification causes altered expression of the genes, their inactivation or the synthesis of a protein with new functions. Some common characteristics of these diseases are that they affect the central nervous system and are degenerative in nature. Most of them show genetic anticipation meaning that the severity of the manifestations increases in each generation and appear at an earlier age. In most cases, the severity of the symptoms is positively correlated with the size of the amplification. Twenty illnesses caused by this kind of mutations have been identified so far. Briefly, this work reviews the current knowledge about this topic.
Subject(s)
Humans , Genetic Counseling , Mutation/genetics , Repetitive Sequences, Nucleic Acid/genetics , Heredodegenerative Disorders, Nervous System/genetics , Genetic Predisposition to Disease , Heredodegenerative Disorders, Nervous System/diagnosis , Predictive Value of TestsABSTRACT
The Lafora disease is an uncommon genetic condition. Four cases (two families) were detected in Zarcero, a small town in Costa Rica (population under 2000). They belonged to two separate consanguineous marriages but both families had common ancestors. The diagnosis of Lafora disease was confirmed by liver and biopsy in one of the patients. The ages of onset were 13, 14, 16 and 17 years. Patients died after four, nine, six and five year of severe progressive physical and mental deterioration, respectively. The gene for Lafora disease arrive to Zarcero from one of its founders. There are no other cases reported from Costa Rica : this is an example of genetic drift, or more specifically, founder effect. Key words: Lafora disease, myoclonic epilepsy, founder effect
Subject(s)
Humans , Male , Female , Biopsy , Central Nervous System/abnormalities , Consanguinity , Epilepsies, Myoclonic , Founder Effect , Heredodegenerative Disorders, Nervous System/diagnosis , Lafora Disease/diagnosis , Lafora Disease/etiology , Costa RicaABSTRACT
Relatamos os casos de dois irmãos, com quatro e seis anos de idade, com achados característicos da síndrome de Van Der Knaap. Discutimos os seus aspectos clínicos e radiológicos, assim como suas peculiaridades. Comparamos aos dados da literatura e analisamos os possíveis mecanismos etiopatogênicos envolvidos.
Subject(s)
Humans , Male , Child, Preschool , Child , Brain Diseases/diagnosis , Brain Diseases/genetics , Chromosome Aberrations/diagnosis , Heredodegenerative Disorders, Nervous System/diagnosis , Magnetic Resonance Imaging , SyndromeABSTRACT
La distrofia miotónica es una enfermedad multisistémica, la cual afecta varios tejidos, como el músculo, el cerebro y algunos tejidos endocrinos. Presenta un patrón de herencia autosómico dominante con penetrancia incompleta y expresión variable. El defecto molecular es una expansión del trinucleótido CTG presente en la región 3 no codificante del gen DMPK, el cual codifica para una proteína quinasa. Existe una correlación positiva entre el número de repeticiones del trinocleótido CTG del alelo afectado y la severidad de la enfermedad y una correlación inversa entre la edad de expresión de la enfermedad y la longitud de la repetición. Se presenta inestabilidad de la repetición tanto mitótica como meióticamente, la primera provoca heterogeneidad somática la segunda causa aumento en el número de repeticiones con la trasmisión de padres a hijos. El mecanismo que conlleva a la expansión y su consecuencia a nivel celular no se conocen por el momento, aunque han surgido algunas hipótesis al respecto. La transmisión de la enfermedad en una familia dependerá tanto del sexo del padre que aporte la mutación como del tamaño de la repetición presente en los gametos. La forma congénita de la enfermedad ocurre casi exclusivamente por transmisión materna, mientras que las mutaciones negativas o contracciones ocurren por la vía paterna. Hasta el momento no existe tratamiento para la enfermedad, pues la fisiopatología de la misma no se conoce