RESUMO
Introducción: La degeneración combinada subaguda (DCS) es un trastorno caracterizado por la degeneración difusa de la sustancia blanca a nivel del SNC, que afecta específicamente los cordones posteriores y laterales de la médula espinal, con pérdida de la mielinización periférica y central. De manera frecuente, las manifestaciones clínicas son parestesias y debilidad generalizada causada por deficiencia de vitamina B12. Presentación del caso: Paciente masculino de 79 años, con cuadro clínico de 3 meses de evolución de limitación funcional para la marcha acompañado de desorientación. Al examen físico evidenció desorientación, cuadriparesia e hiporreflexia, con niveles séricos bajos de vitamina B12, RM cervical con focos hiperintensos en el segmento C3/C6 y endoscopia de vías digestivas altas con atrofia de la mucosa gástrica. Presentamos un caso clínico de DCS. Discusión: Este es un caso de DCS que se manifiesta por medio de una alteración neuropsiquiátrica, con una presentación inicial inespecífica que comprende deterioro de la marcha, movimientos anormales con afectación cognitiva y psiquiátrica dada por alucinaciones visuales y desorientación. Su sospecha es importante en pacientes con factores de riesgo por medio del conocimiento de la patología, para una adecuada sospecha diagnóstica y una instauración oportuna de reposición vitamínica, la cual presenta una excelente respuesta. Conclusión: La DCS es un trastorno en el que se evidencia anemia con deficiencia de vitamina B12, des-mielinización del tejido nervioso y en muchos casos signos sugestivos de atrofia gástrica, y para ello es crucial la detección temprana de esta enfermedad por medio de la determinación de niveles séricos de vitamina B12, asociado a síntomas neurológicos, para así lograr su adecuado diagnóstico y tratamiento.
Introduction: Subacute combined degeneration (DCS) is a disorder characterized by diffuse degeneration of white matter at the CNS level, specifically affecting the posterior and lateral cords of the spinal cord, also with loss of peripheral and central myelination, frequently the clinical manifestations are paresthesias and generalized weakness caused by vitamin B12 deficiency. Case presentation: A 79-year-old male patient with a 3-month history of functional limitation for walking accompanied by disorientation. On physical examination, he revealed disorientation, quadriparesis, and hyporeflexia, with low serum levels of vitamin B12, cervical MRI with hyperintense foci in segment C3/C6, and upper digestive tract endoscopy with atrophy of the gastric mucosa. We present a clinical case of DCS. Discussion: This is a case of DCS that manifests itself through neuropsychiatric alteration with a nonspecific initial presentation with gait impairment, abnormal movements with cognitive and psychiatric affectation given by visual hallucinations and disorientation. Its suspicion is important in patients with risk factors. risk through knowledge of the pathology for an adequate diagnostic suspicion and a timely establishment of vitamin replacement for which it presents an excellent response. Conclusion: DCS is a disorder where anemia with vitamin B12 deficiency, demyelination of the nervous tissue and in many cases signs suggestive of gastric atrophy are evident, for which early detection of this disease is crucial through the determination of serum levels of vitamin B12 associated with neurological symptoms, in order to achieve its proper diagnosis and treatment.
Assuntos
Deficiência de Vitamina B 12 , Anemia , Ácido Metilmalônico , Debilidade Muscular , Degeneração Combinada Subaguda , Fator IntrínsecoRESUMO
The etiology of subacute combined degeneration (SCD) of the spinal cord is closely associated with vitamin B12 (VitB12) deficiency. The clinical manifestations of SCD are complex and vary substantially. Due to some SCD patients with atypical manifestations and concomitant autoimmune disorders, the probability of misdiagnosis and missed diagnosis is still relatively high in the early stage. We report the cases of two patients who were missed or misdiagnosed at another hospital because of the normal initial VitB12 level and partial overlap of clinical manifestations, finally diagnosed as SCD with atypical manifestations and concomitant autoimmune disorders, pharyngeal-cervical-brachial Guillain-Barre syndrome in Case 1 and SCD with autoimmune thyroiditis in Case 2. After undergoing corresponding treatment, death was reported in Case 1 and improvement in Case 2. Analysis of the clinical manifestations and investigation of the underlying pathogenesis in such patients could help improve the rate of early diagnosis and allow timely treatment of SCD, thereby preventing disease progression and poor clinical outcomes.
Assuntos
Humanos , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Degeneração Combinada Subaguda/complicações , Degeneração Combinada Subaguda/diagnóstico , Degeneração Combinada Subaguda/patologia , Medula Espinal , Vitamina B 12 , Imageamento por Ressonância MagnéticaRESUMO
Resumen La importancia de la detección de la deficiencia de vitamina B12 radica en que es una causa reversible de fallo de medula ósea y desmielinización del sistema nervioso. Se puede presentar en hallazgos de laboratorio con datos de hemólisis con recuento reticulocitario disminuido, a diferencia otras formas de anemia hemolítica. La degeneración combinada subaguda medular es una manifestación atípica de la deficiencia de cobalamina; se trata de un proceso desmielinizante asociado a muerte neuronal, que se manifiesta en individuos con niveles muy bajos de esta vitamina y con síntomas inicialmente neurológicos, como parestesias en extremidades y debilidad generalizada. Se reporta el caso de una paciente femenina de 35 años, con hemólisis asociada a bicitopenia, manejada con altas dosis de esteroides sin mejoría clínica, que luego consultó por cuadro de 2 meses de evolución de parestesias e inestabilidad de la marcha. Al examen físico se documentó marcha atáxica, Romberg positivo y estudios de laboratorio que revelaron anemia megaloblástica con datos de hemolisis y reticulocitos disminuidos.
Abstract Vitamin B12 deficiency it's a reversible cause of bone marrow failure and is associated with demyelination of the nervous system, it's important to make the diagnosis correctly and early to prevent irreversible damage. It can present with laboratory findings suggestive of hemolysis with decreased reticulocyte count unlike other forms of hemolytic anemia. The combined subacute marrow degeneration is an atypical manifestation of cobalamin deficiency, it's a demyelinating process associated with neuronal death that occurs with very low levels of this vitamin, the initial manifestations are neurological symptoms like paresthesia in limbs and generalized weakness. This case report analyzes a 35-year-old female with a recent diagnosis of Evans syndrome, due to the presence of hemolysis. Now she comes with a medical record of 2-month presenting with paresthesias and gait instability. The physical examination documented ataxic gait, positive Romberg sing and laboratory findings that reveal macrocytic anemia and hemolysis data with decreased reticulocytes count.
Assuntos
Humanos , Medula Espinal , Vitamina B 12 , Deficiência de Vitamina B 12 , Costa Rica , Degeneração Combinada Subaguda , AnemiaRESUMO
Intrathecal chemotherapy may be complicated with the development of myelopathies or toxic radiculopathies. This myeloradicular involvement, of toxic character, is unpredictable, since these patients have repeatedly received Intrathecal chemotherapy with the same drugs without apparent injury. The toxic effect should be mainly attributed to Cytarabine and not to methotrexate, since the central nervous system lacks Cytidine deaminase, the enzyme that degrades Cytarabine. We report two patients, an 18-year-old woman and a 16 years old male, who received systemic and intrathecal chemotherapy (methotrexate, cytarabine) for the treatment of an acute lymphoblastic leukemia and developed, in relation to this procedure, a spinal subacute combined degeneration. They had a proprioceptive and motor alteration of the lower extremities and neuroimaging showed selective rear and side spinal cord hyper intensity produced by central axonopathy. Two weeks later the woman developed a quadriplegia and the young man a flaccid paraplegia due to added root involvement.
Assuntos
Humanos , Feminino , Adolescente , Metotrexato/efeitos adversos , Citarabina/efeitos adversos , Degeneração Combinada Subaguda/induzido quimicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Antimetabólitos Antineoplásicos/efeitos adversos , Injeções Espinhais , Imageamento por Ressonância Magnética , Metotrexato/administração & dosagem , Evolução Fatal , Citarabina/administração & dosagem , Degeneração Combinada Subaguda/diagnóstico por imagem , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Antimetabólitos Antineoplásicos/administração & dosagemRESUMO
RESUMEN La degeneración combinada subaguda, es una patología de tipo neuropsiquiatrica asociada al déficit de vitamina B12. Se manifiesta clínicamente por ataxia sensorial, neuropatía periférica, disfunción cognitiva y neuropatía óptica; estas manifestaciones generalmente son atribuidas a la síntesis anormal de mielina. Puede tener una presentación clínica inespecífica, pero la medición de los niveles de vitamina B12, algunos metabolitos séricos, y el uso de métodos de neuroimagen, ayudan a confirmar el diagnóstico ante su sospecha. A continuación se describe el caso de un paciente con un cuadro de degeneración combinada subaguda, quien consultó por síntomas neurológicos e hipertensión severa, quien luego del tratamiento presentó mejoría de su sintomatologia neurológica y vascular.
SUMMARY Sub-acute combined degeneration is a neuropsychiatrical pathology associated with vitamin B12 deficiency It is clinically manifested through sensorial ataxia, peripheral neuropathy, cognitive dysfunction and optical neuropathy; these manifestations are generally attributed to the abnormal synthesis of myelin. It can have a nonspecific clinical presentation but the measurement of the levels of vitamin B12, some serum metabolites, and the use of neuroimaging methods help to confirm the diagnose when suspected. The case of a patient with sub-acute combined degeneration is described below. The patient was attended because of neurological symptoms and severe hypertension, and after the treatment, the patient's neurological and vascular symptomatology improved.
Assuntos
Cobamidas , Homocisteína , Ácido Metilmalônico , MieliteRESUMO
CONTEXT: Decreased vitamin B12 concentration does not usually result in clinical or hematological abnormalities. Subacute combined spinal cord degeneration and pancytopenia are two serious and rarely displayed consequences that appear in severe deficits. CASE REPORT: We present the case of a patient with subacute combined spinal cord degeneration and pancytopenia secondary to severe and sustained vitamin B12 deficiency. Such cases are rare nowadays and have potentially fatal consequences. CONCLUSIONS: Vitamin B12 deficiency should be taken into consideration in the differential diagnosis in cases of blood disorders or severe neurological symptoms. Early diagnosis and treatment can avoid irreversible consequences.
CONTEXTO: El descenso de la concentración de vitamina B12 no suele derivar en alteraciones clínicas o hematológicas. La degeneración combinada subaguda medular y la pancitopenia son dos consecuencias graves y poco frecuentes que aparecen en los déficit severos. CASO CLÍNICO: Presentamos el caso de un paciente con una degeneración combinada subaguda medular y pancitopenia secundarios a un déficit severo y mantenido de vitamina B12. Un caso poco común en nuestros días y con consecuencias potencialmente fatales. CONCLUSIONES: Debemos considerar el déficit de vitamina B12 dentro del diagnóstico diferencial en caso de alteraciones hematológicas o síntomas neurológicos graves. Su diagnóstico y tratamento precoz pueden evitar secuelas irreversibles.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Pancitopenia/etiologia , Degeneração Combinada Subaguda/etiologia , /complicações , Pancitopenia/tratamento farmacológico , Degeneração Combinada Subaguda/tratamento farmacológico , Resultado do Tratamento , /tratamento farmacológico , /uso terapêuticoRESUMO
La deficiencia de vitamina B12, lleva a anemia macrocítica, daños neurológicos en nervios periféricos, nervio óptico, daño de columna posterior de la médula espinal e hiperhomocisteinemia, siendo factor de riesgo cardiovascular. La Degeneración Subaguda Combinada (DSC) es un desorden neurológico secundario al deficit de vitamina B12 con lesiones en las columnas posteriores del cordón espinal, los síntomas tempranos son disestesias y parestesias. Reportamos los casos de tres pacientes con degeneración subaguda combinada y deficit de vitamina B12...
Vitamina B12 Deficiency results in anemia, neurologic injury in peripheral nerves,optic nerve, damage to theposterior column of the spinal cord, andhiperhomocysteinemia reason for cardiovascular risk. Subacute Conbined Degeneration is a neurological disorder of the posterior columns of spinal cord caused by vitamina B12 secundary deficiency, The earliest symptomsare dysaesthesia and paresthesia.We report three cases of patient with Subacute combined degeneration and vitamin B12 deficiency.