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1.
Braz. j. med. biol. res ; 54(10): e11355, 2021. graf
Artigo em Inglês | LILACS | ID: biblio-1285647

RESUMO

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 Magnética
2.
Acta méd. costarric ; 61(4): 183-186, oct.-dic. 2019. tab
Artigo em Espanhol | LILACS | ID: biblio-1054729

RESUMO

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 , Anemia
3.
Rev. méd. Chile ; 146(6): 802-807, jun. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-961462

RESUMO

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 & dosagem
5.
Rev. Soc. Peru. Med. Interna ; 25(3): 135-139, jul.-sept. 2012. ilus
Artigo em Espanhol | LILACS, LIPECS | ID: lil-665021

RESUMO

Varón de 70 años, diabético, que desconoce a sus familiares, con amnesia transitoria de eventos recientes e inestabilidad en la marcha asociada a caídas frecuentes. Dos años antes, tuvo un episodio depresivo y pérdida progresiva de peso. Seis meses antes de su ingreso, presentó alucinaciones visuales e hipotiroidismo. Pálido, con cuadriparesia espástica. Los estudios mostraron una anemia megaloblástica, con niveles séricos muy bajos de vitamina B12, autoanticuerpos para factor intrínseco, células parietales y antiroideos, atrofia cerebral y compromiso de los cordones posteriores de C1 a D5. Tras dos meses de tratamiento con cianobalamina, el paciente recuperó el 50% de su capacidad cognitiva y motora.


A 70 year-old male, diabetic, who failed to recognize his relatives, with temporary amnesia of recent events and instability in gait associated with frequent falls. Two years earlier, he had a major depressive episode and progressive weight loss. Six months before his admission, he presented visual hallucinations and hypothyroidism. Pale, with spastic quadriparesis. The studies showed a megaloblastic anemia, with very low serum levels of vitamin B12, antibodies to intrinsic factor, parietal cells and anthyroid, brain atrophy and cord involvement from C1 to D5. After two months of treatment with cyanocobalamin, the patient recovered 50% of their cognitive and motor ability.


Assuntos
Humanos , Masculino , Idoso , Anemia Megaloblástica , Anemia Perniciosa , Degeneração Combinada Subaguda , Demência , Encefalopatias
6.
São Paulo med. j ; 130(4): 259-262, 2012. ilus, tab
Artigo em Inglês | LILACS | ID: lil-647953

RESUMO

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 terapêutico
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