RESUMO
Objectives: Describe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment. Case presentation: We report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient. Conclusions: The variant detected in HARS gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.
RESUMO
Gaucher's disease is the most prevalent disease of accumulation of glycosphingolipids. Neurological involvement is used to classify the different types of the disease. Type 1 affects approximately 90% of patients, and visceral manifestations and bone marrow, without affecting the nervous system. Type 2 is considered a severe form of disease with severe nervous system and death within two years. Type 3 is late, slowly progressive neurological symptoms and survival until the third decade. Besides these classical syndromes, the best knowledge of the disease related to the existence of national registries, the increased survival of patients resulting from replacement therapy, and demonstration of the behavior of glucocerebrosidase mutations as a risk factor of neurodegenerative diseases, has expanded the clinical phenotype and altered the traditional classification of the disease.
Assuntos
Doença de Gaucher/classificação , Doença de Alzheimer/etiologia , Transtornos Cerebrovasculares/etiologia , Doença de Gaucher/complicações , Doença de Gaucher/genética , Doença de Gaucher/terapia , Glucosilceramidase/genética , Heterozigoto , Humanos , Doença por Corpos de Lewy/genética , Mutação/genética , Doença de Parkinson/etiologia , Doenças do Sistema Nervoso Periférico/etiologiaRESUMO
No disponible
Assuntos
Humanos , Feminino , Adulto , Trombose Intracraniana/complicações , Trombose Intracraniana/terapia , Imunoglobulinas/uso terapêutico , Administração Intravenosa , Imunidade Humoral/efeitos dos fármacos , Anfotericina B/administração & dosagem , Trombofilia/complicações , Angiografia Cerebral/métodosRESUMO
No disponible
Assuntos
Humanos , Feminino , Adulto , Lúpus Eritematoso Sistêmico/complicações , Hidroxicloroquina/uso terapêutico , Miastenia Gravis/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Acetilcolinesterase/uso terapêutico , Fatores Imunológicos/uso terapêuticoRESUMO
La enfermedad de Gaucher es la más frecuente de las enfermedades de acúmulo de glucoesfingolípidos. La afectación neurológica se utiliza para clasificar los distintos tipos de la enfermedad. El tipo 1 afecta aproximadamente al 90% de los pacientes, y presenta manifestaciones viscerales y de la médula ósea, sin afectar al sistema nervioso. El tipo 2 se considera una forma aguda de enfermedad con afectación grave del sistema nervioso y fallecimiento antes de los 2 años de edad. El tipo 3 es más tardío, con síntomas neurológicos lentamente progresivos y supervivencia hasta la tercera década. Junto a estos síndromes clásicos, el mejor conocimiento de la enfermedad relacionada con la existencia de registros nacionales, la mayor supervivencia de los pacientes derivada del tratamiento sustitutivo y la demostración del comportamiento de las mutaciones de glucocerebrosidasa como un factor de riesgo para enfermedades neurodegenerativas, ha ampliado el fenotipo clínico y alterado la clasificación clásica de la enfermedad (AU)
Gauchers disease is the most prevalent disease of accumulation of glycosphingolipids. Neurological involvement is used to classify the different types of the disease. Type 1 affects approximately 90% of patients, and visceral manifestations and bone marrow, without affecting the nervous system. Type 2 is considered a severe form of disease with severe nervous system and death within two years. Type 3 is late, slowly progressive neurological symptoms and survival until the third decade. Besides these classical syndromes, the best knowledge of the disease related to the existence of national registries, the increased survival of patients resulting from replacement therapy, and demonstration of the behavior of glucocerebrosidase mutations as a risk factor of neurodegenerative diseases, has expanded the clinical phenotype and altered the traditional classification of the disease (AU)
Assuntos
Humanos , Doença de Gaucher/classificação , Doença de Gaucher/complicações , Doença de Gaucher/genética , Doença de Gaucher/terapia , Doença de Alzheimer/etiologia , Transtornos Cerebrovasculares/etiologia , Glucosilceramidase/genética , Heterozigoto , Doença por Corpos de Lewy/genética , Mutação/genética , Doença de Parkinson/etiologia , Doenças do Sistema Nervoso Periférico/etiologiaRESUMO
Libro que aborda todos los aspectos de la afectación neurológica en la enfermedad de Gaucher, desde su epidemiología hasta la disfunción mitocondrial, los genes implicados, el valor de los biomarcadores, las implicaciones del sistema inmune, el uso de la neuroimagen funcional o el tratamiento de la enfermedad, entre muchos otros temas.