Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 25
Filter
1.
Acta neurol. colomb ; 39(2)jun. 2023.
Article in Spanish | LILACS | ID: biblio-1533494

ABSTRACT

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.


Subject(s)
Vitamin B 12 Deficiency , Anemia , Methylmalonic Acid , Muscle Weakness , Subacute Combined Degeneration , Intrinsic Factor
2.
Braz. j. med. biol. res ; 54(10): e11355, 2021. graf
Article in English | LILACS | ID: biblio-1285647

ABSTRACT

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.


Subject(s)
Humans , Autoimmune Diseases/complications , Autoimmune Diseases/diagnosis , Subacute Combined Degeneration/complications , Subacute Combined Degeneration/diagnosis , Subacute Combined Degeneration/pathology , Spinal Cord , Vitamin B 12 , Magnetic Resonance Imaging
3.
Acta méd. costarric ; 61(4): 183-186, oct.-dic. 2019. tab
Article in Spanish | LILACS | ID: biblio-1054729

ABSTRACT

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.


Subject(s)
Humans , Spinal Cord , Vitamin B 12 , Vitamin B 12 Deficiency , Costa Rica , Subacute Combined Degeneration , Anemia
4.
Article in English | WPRIM | ID: wpr-762651

ABSTRACT

We report two cases of subacute combined degeneration (SCD) caused by nitrous oxide (N₂O) gas intoxication, which is rarely reported in Korea. Two patients recreationally inhaled N₂O gas daily for several months. They presented with paresthesia of limbs, voiding difficulty, and gait disturbance. The initial vitamin B₁₂ levels were normal or decreased, but homocysteine levels of the two patients were increased. Magnetic resonance imaging of the cervical spine showed T2-weighted hyperintensity in the bilateral dorsal columns of the cervical spinal cord. Electromyography and somatosensory evoked potential tests for both patients suggested posterior column lesion of the spinal cord combined with sensorimotor polyneuropathy. According to these findings, we concluded that the two patients had SCD. The patient’s symptoms partially improved after cessation of N₂O gas inhalation and the receiving of vitamin B₁₂ supplementation therapy. As the incidence of recreational N₂O gas inhalation is increasing in Korea, physicians must be alert to the N₂O induced SCD in patients presenting with progressive myelopathy.


Subject(s)
Humans , Cervical Cord , Electromyography , Evoked Potentials, Somatosensory , Extremities , Gait , Homocysteine , Incidence , Inhalation , Korea , Magnetic Resonance Imaging , Nitrous Oxide , Paresthesia , Polyneuropathies , Recreation , Spinal Cord , Spinal Cord Diseases , Spine , Subacute Combined Degeneration , Vitamin B 12 , Vitamins
6.
Rev. méd. Chile ; 146(6): 802-807, jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-961462

ABSTRACT

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.


Subject(s)
Humans , Female , Adolescent , Methotrexate/adverse effects , Cytarabine/adverse effects , Subacute Combined Degeneration/chemically induced , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Antimetabolites, Antineoplastic/adverse effects , Injections, Spinal , Magnetic Resonance Imaging , Methotrexate/administration & dosage , Fatal Outcome , Cytarabine/administration & dosage , Subacute Combined Degeneration/diagnostic imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Antimetabolites, Antineoplastic/administration & dosage
10.
Article in Korean | WPRIM | ID: wpr-105738

ABSTRACT

We report a patient who was diagnosed as subacute combined degeneration (SCD) with elevated homocysteine and methylmalonic acid levels in the situation of a spurious elevation of the vitamin B12 concentration. A false-positive elevation of the vitamin B12 level could lead to a delayed diagnosis and cause irreversible changes in the nervous systems. We therefore suggest that the homocysteine and methylmalonic acid levels should be checked in patients with a normal or elevated vitamin B12 level for whom there is a high clinical suspicion for vitamin B12 deficiency, as a further evaluation for SCD.


Subject(s)
Humans , Delayed Diagnosis , Gastritis, Atrophic , Homocysteine , Methylmalonic Acid , Nervous System , Subacute Combined Degeneration , Vitamin B 12 Deficiency , Vitamin B 12 , Vitamins
11.
Article in English | WPRIM | ID: wpr-14039

ABSTRACT

Pernicious anemia (PA) is an autoimmune disease characterized by atrophic gastritis and deficiency in intrinsic factor leading to impairment of vitamin B12 absorption in the ileum. Anemia is commonly found in rheumatoid arthritis (RA); however, PA is rarely found in RA. There are few reports describing patients with both conditions; none in Korea to date. We report on a case of a 46-year-old female who presented with hypesthesia and general weakness. She was previously diagnosed as seropositive RA with myelodysplastic syndrome. She had severely impaired sensation, especially for vibration and proprioception in all limbs. Subacute combined degeneration was observed on her magnetic resonance imaging and serum vitamin B12 level was very low. Further exam results were consistent with PA and her symptoms improved with cobalamin injection. This case demonstrates that PA should be considered in RA patients presenting with both central nervous system manifestations and anemia.


Subject(s)
Female , Humans , Middle Aged , Absorption , Anemia , Anemia, Pernicious , Arthritis, Rheumatoid , Autoimmune Diseases , Central Nervous System , Extremities , Gastritis, Atrophic , Hypesthesia , Ileum , Intrinsic Factor , Korea , Magnetic Resonance Imaging , Myelodysplastic Syndromes , Proprioception , Subacute Combined Degeneration , Vibration , Vitamin B 12
13.
Experimental Neurobiology ; : 128-131, 2013.
Article in English | WPRIM | ID: wpr-74492

ABSTRACT

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.


Subject(s)
Child , Humans , Foot , Gait , Gastrectomy , Hand , Heterozygote , Muscle Spasticity , Paresthesia , Peripheral Nervous System Diseases , Porphyrins , Pyramidal Tracts , Sensation , Spastic Paraplegia, Hereditary , Subacute Combined Degeneration , Vibration , Vitamin B 12
14.
Rev. Soc. Peru. Med. Interna ; 25(3): 135-139, jul.-sept. 2012. ilus
Article in Spanish | LILACS, LIPECS | ID: lil-665021

ABSTRACT

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.


Subject(s)
Humans , Male , Aged , Anemia, Megaloblastic , Anemia, Pernicious , Subacute Combined Degeneration , Dementia , Brain Diseases
15.
Yonsei Medical Journal ; : 276-278, 2012.
Article in English | WPRIM | ID: wpr-154818

ABSTRACT

PURPOSE: Subacute combined degeneration (SCD) involves progressive degeneration of the spinal cord, optic nerve, and peripheral nerves. Vitamin B12 (VB12) is a co-factor in myelin synthesis. Because each cell that constitutes the myelin component in the central nervous system and peripheral nervous system is different, it is improbable that these cells undergo simultaneous degeneration. However, the sequence of degeneration in SCD has not been established. MATERIALS AND METHODS: In this study, we analysed medical records and electrophysiological data of patients who showed neurological symptoms and whose serum VB12 levels were lower than 200 pg/mL. RESULTS: We enrolled 49 patients in this study. Their mean VB12 level was 68.3 pg/mL. Somatosensory evoked potential (SEP) study showed abnormal findings in 38 patients. Of the 40 patients who underwent visual evoked potential (VEP) study, 14 showed abnormal responses. Eighteen patients showed abnormal findings on a nerve conduction study (NCS). In this study, abnormal posterior tibial nerve SEPs only were seen in 16 patients, median nerve SEPs only were seen in 3 patients, abnormal VEPs only in two, and abnormal NCS responses in one patient. No patient complained of cognitive symptoms. CONCLUSION: In SCD, degeneration appears to progress in the following order: lower spinal cord, cervical spinal cord, peripheral nerve/optic nerve, and finally, the brain.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Evoked Potentials, Somatosensory/physiology , Subacute Combined Degeneration/blood , Vitamin B 12/blood , Vitamin B 12 Deficiency/blood
16.
São Paulo med. j ; 130(4): 259-262, 2012. ilus, tab
Article in English | LILACS | ID: lil-647953

ABSTRACT

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.


Subject(s)
Humans , Male , Middle Aged , Pancytopenia/etiology , Subacute Combined Degeneration/etiology , /complications , Pancytopenia/drug therapy , Subacute Combined Degeneration/drug therapy , Treatment Outcome , /drug therapy , /therapeutic use
17.
Pakistan Journal of Medical Sciences. 2010; 26 (3): 736-739
in English | IMEMR | ID: emr-97752

ABSTRACT

Vitamin B12 deficiency may cause hematologic, gastrointestinal, psychiatric and neurological symptoms. Sub-acute combined degeneration of spinal cord, which develops in the deficiency of vitamin B12, may be reversible in case of early diagnosis and treatment. We describe the management of a 50-years old female who got admitted with pancytopenia and elevated LDH, with walking difficulties since last 15 days. B12 and folic acid levels were found in normal ranges. Megaloblastic changes were observed in the bone marrow examination. Abnormal hyperintence signal changes were observed in T2-weighed cervical spinal cord Magnetic Resonance Imaging in posterior row. Due to the high homocysteine level, treatment with parenteral B12 vitamin was initiated. Following the 3-months treatment, hematologic counts and neurological symptoms of the patient were found to be completely recovered at the control visit. Vitamin B12 deficiency should be considered for the patients with pancytopenia, elevated LDH levels and neurological symptoms, even if vitamin B12 and MCV levels are in normal ranges. Vitamin B12 deficiency should be confirmed with the additional assays, such as, the assessment of serum homocysteine and methylmalonic acid levels, and the treatment should be started promptly


Subject(s)
Humans , Female , Middle Aged , Vitamin B 12/blood , Subacute Combined Degeneration/etiology , Pancytopenia/etiology , Vitamin B 12 Deficiency , Subacute Combined Degeneration/drug therapy , Pancytopenia/drug therapy
18.
Article in Korean | WPRIM | ID: wpr-722930

ABSTRACT

Vitamin B12 deficiency can cause myelopathy of subacute combined degeneration of lateral and dorsal column in spinal cord. When combined with compressive myelopathy, symptoms and signs of vitamin B12 deficient myelopathy could be masked. We experienced a case of forty-one year old man suffered from gait disturbance and decreased proprioception. Initially surgeons concluded his weakness resulted from myelopathy by C5-6 centrally herniated disk based on MRI and surgical decompression was performed. Gait disturbance slightly improved but decreased proprioception did not improve. Vitamin B12 deficiency was found and high signal intensity lesions were found in dorsal and lateral spinal column with review of pre-op MRI. After administration with vitamin B12 supplements, weakness and sensation of proprioception improved and follow-up MRI showed decreased signal intensity. We concluded the cause of his symptoms was combination of compressive myelopathy and vitamin B12 deficient myelopathy.


Subject(s)
Decompression, Surgical , Follow-Up Studies , Gait , Intervertebral Disc Displacement , Masks , Proprioception , Sensation , Spinal Cord , Spinal Cord Compression , Spinal Cord Diseases , Spine , Subacute Combined Degeneration , Vitamin B 12 , Vitamin B 12 Deficiency , Vitamins
19.
Article in Korean | WPRIM | ID: wpr-722553

ABSTRACT

Subacute combined degeneration is a disease of spinal cord involving the posterior and lateral columns due to vitamin B12 deficiency. We experienced a 56-year-old man suffering subacute combined degeneration, characterised by dysesthesia and disturbance of deep sensation such as position sense, proprioception and vibration sense in the lower extremities, and ataxic gait. We reported one patient with subacute combined degeneration of the cord in association with pernicious anemia resulting from inactivation of intrinsic factor by it's antibodies.


Subject(s)
Humans , Middle Aged , Anemia, Pernicious , Antibodies , Gait , Intrinsic Factor , Lower Extremity , Paresthesia , Proprioception , Sensation , Spinal Cord , Subacute Combined Degeneration , Vibration , Vitamin B 12 Deficiency
SELECTION OF CITATIONS
SEARCH DETAIL