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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 FactorABSTRACT
The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.
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Adrenomyeloneuropathy(AMN) is a variant of adrenoleukodystrophy (ALD) which is a peroxisomal disorder of beta-oxidation that results in accumulation of very long-chain fatty acids (VLCFAs) in plasma, central and peripheral nervous systems, adrenal glands and testes leading totheir dysfunction. These conditions are known as the ALD/AMN complex. In this article we discuss a case of AMN with respect to clinical presentation, diagnosis and treatment.
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Objective:To analyze the electrophysiological characteristics of subacute combined degeneration of spinal cord in 10 patients with nitrous oxide poisoning.Methods:Ten patients with nitrous oxide poisoning (case group) and 20 controls (control group)treated in Dalian Municipal Central Hospital Affiliated of Dalian Medical University from January 2016 to January 2020 were included in this study. MRI and electrophysiological examinations were performed on the head, cervical spine and thoracic spine, including distal motor latency (DML), motor nerve amplitude (CMAP), motor conduction velocity (MNCV), sensory conduction velocity (SNCV), sensory nerve amplitude (SNAP), N20 latency of upper limb cortical somatosensory evoked potential and P40 latency of lower limb cortical somatosensory evoked potential. The above indexes were compared between the two groups.Results:In the case group, DML of motor nerve was prolonged, MNCV was slowed down, CMAP was decreased, SNCV was slowed down and SNAP was decreased compared with the control group, the differences were statistically significant ( P<0.05). The incubation periods of N20 and P40 in the case group were longer than those in the control group: (32.70 ± 3.34) ms vs. (18.85 ± 1.37) ms, (57.00 ± 4.08) ms vs. (38.40 ± 1.54) ms, the differences were statistically significant ( t = 16.20, 18.20, P<0.01). The inverted "V" type T 2 long signal of cervical spinal cord and thoracic spinal cord could be seen on MRI of cervical or cervical and thoracic vertebrae in 5 patients. Conclusions:Nitrous oxide poisoning can cause obvious subacute combined degeneration of spinal cord, involving peripheral nerve and spinal cord damage. Peripheral nerve damage can involve motor fibers and sensory fibers, mainly axonal damage, accompanied by demyelination damage, especially in both lower limbs.
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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 ImagingABSTRACT
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 , AnemiaABSTRACT
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 , VitaminsABSTRACT
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 & dosageABSTRACT
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.
Subject(s)
Cobamides , Homocysteine , Methylmalonic Acid , MyelitisABSTRACT
No abstract available.
Subject(s)
Inhalation , Nitrous Oxide , Pulmonary Embolism , Subacute Combined DegenerationABSTRACT
A 54-year-old man presented with progressive onset of lower limb paraesthesias, sensory ataxia, gait instability and lower limb weakness. Laboratory findings revealed low serum B12 levels. Magnetic resonance imaging showed long-segment symmetrically increased T2 signal within the dorsal columns of the spinal cord in the lower thoracic spine. The conglomeration of findings was consistent with a diagnosis of subacute combined degeneration of the spinal cord (SCD). Aside from mild residual paraesthesias, the patient's symptoms largely resolved after treatment with intramuscular injections of vitamin B12. The clinical presentation, pathophysiology, clinical and radiologic differential diagnosis, and management of SCD were described.
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Objective To investigate the clinical outcome of cervical expensive open-door laminoplasty combined with vitamin B12 treatment for patients of cervical spondylotic myelopathy with subacute combined degeneration of the spinal cord.Methods Data of 10 patients with cervical spondylotic myelopathy with subacute combined degeneration of the spinal cord in February 2013 to August 2013 were retrospectively analyzed.There were 7 males and 3 females with an average age of 46 years (range,32-73 years).Eight patients' history was in six months,and others' was beyond six months.All patients had undergone cervical expansive open-door laminoplasty with mini-plate fixation combined with intramuscular injection or pre os vitamin B 12.Patient imaging data were used to assess the stability of the cervical spine,and spinal cord compression in the fixed position before and after their surgery.Japanese Orthopaedic Association (JOA) score was used to evaluate function,and the rate of neurological improvement was calculated.The American Spinal Injury Association was used to evaluate the neurological function inpatients before and after surgery.The preoperative and postoperative numerical changes of SEP and vitamin B 12 were compared using correlation analysis.Each dimension of preoperative and postoperative scores change was compared by Life quality evaluation F-36 scale.Results All patients were followed up for an average period of 15 months (range,6-26 months).There were no complications related to the internal fixation,such as fixation loosened or broken.Cerebrospinal fluid surrounding the spinal cord within the C3-7 range of the signal on MRI T2WI of the continuous had been recovered.JOA score increased from preoperative 9.6±2.04 to postoperative 14.7±2.04,and postoperative neurological improvement rate was 20％-80％.The excellent and good rate was 90％ (9/10) including 4 excellent and 5 good.Vitamin B12 level before operation:78.30±42.82 pg/ml,postoperative:176.50±85.77 pg/ml.Electromyography and SEP had been all recovered.There was correlation between preoperative and postoperative vitamin B 12 levels with spinal cord function score.According to ASIA score,there were 4 cases in C level,6 in D level preoperatively,while 2 in C level,5 in D level,3 in E level postoperatively.Conclusion Cervical spondylotic myelopathy with subacute combined degeneration of the spinal cord could be treated by surgery.Vitamin B 12 by per os or intramuscular injection with removal of the cervical spinal cord compression which creates a space for recovery of spinal cord could improve the surgical curative effect.
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Objective To discuss the diagnostic value of detecting plasma vitamin B12 and Homocysteine (Hcy) in subacute combined degeneration of the spinal cord (SCD).Methods Parents of SCD (n=29) and subjects (n=74) without spinal cord diseases were enrolled from the clinic of Shaanxi Provincial People's Hospital from April 2014 to July 2016.The plasma vitamin B12 and Hcy concentrations were detected using Chemiluminescence Immunoassay (CLIA) and enzyme-linked immuno sorbent assay (ELISA) respectively,and compared using chi-square between the SCD and control groups.Sensitivity rate,specific rate,and diagnose accordance rate were evaluated.Results The plasma homocysteine and vitamin B12 concentrations in SCD and control groups were 49.41 μmol/L vs 12.36 μmol/L,44.35 pg/ml vs 166.75 pg/ml,with significant differences (U=343.50,800.00,P＜0.05).Negative correlation existed between the concentrations of vitamin B12 and Hey (r=-0.248,P=0.012).The sensitivity rates of vitamin B12 and Hcy detections were 55.2％ vs 89.7％,which had significant differences (x2 =8.631,P=0.003),and the diagnose accordance rate (69.9％ vs 64.1％) of the former was higher (x2 =4.175,P=0.041).Conclusion The plasma Hcy and vitamin B12 concentration detections had definite diagnostic value in SCD,and Hcy had higher sensitive rate,which can improve the diagnostic rate of SCD in the early stage.
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Objective To retrospectively study the clinical and electrodiagnostic features in subacute combined degeneration of spinal cord (SCD)patients. Methods The clinical and electrodiagnostic recordings of all SCD patients conformed in our Neurology Department from Janu?ary 2013 to July 2015 were retrospectively reviewed. Totally 29 patients diagnosed as SCD,whom received no treatment before admitted in our hos?pital,were recruited for the study. Correlation analysis between serum level of vitamin B12(VB12),course of disease and degree of neural lesion was performed,and the electrodiagnostic features were summarized and analyzed. Results The course of disease had significant correlation with the degree of neural lesion(P=0.001),but there was no significant relevance between serum VB12 level and neural damage(P>0.05). Electrodi?agnostic examination revealed:The abnormal rate of motor nerve(15.20%)was lower than that of sensory nerve(42.75%,P<0.001)and the up?per limb nerve(27.1%)was lower than that of lower limb nerve(30.87%,P=0.578). There was no remarkable difference of abnormal rate in all kinds of nerves of motor and sensory nerve(P1=0.320,P2=0.755). In the analysis of the parameters of electromyograph,there was statistical signif?icance of the abnormal rates of compound muscle action potential(CAMP)between each motor nerve(P=0.005). There was statistical signifi?cance of the abnormal rates of CAMP and no function between each sensory nerve(all P<0.001). Conclusion The course of disease has signifi?cant correlation with the degree of neural lesion. Sensory nerve is tended to be betreffend than motor nerve. Phil.always nervous are more likely to be affected than others in motor nerve at CAMP. Tibial nerve is easier to be influenced at CAMP in sensory nerve ,and the lesion is more serious.
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Objective To investigate MRI characteristics of subacute combined degeneration(SCD)with secondary spinal canal stenosis.Methods The clinical and MRI imaging data of 56 patients with SCD were collected to analyze the performance characteristics between spinal cord lesions and spinal canal stenosis,which depended on the synergism of lumbar disc bluge or herniation,degenerative thickening of the ligament flavum and posterior longitudinal ligament.Results Among 56 SCD cases underwent MRI scan,45 cases were combined with spinal cord lesions which showed typical signs of SCD.37 patients were secondary spinal canal stenosis with typical signs,but 2 showed no typical signs.8 patients were no secondary spinal canal stenosis and showed typical.9 cases showed neither spinal cord lesions nor secondary spinal canal stenosis.There was significant difference (P <0.05)between relative secondary spinal canal stenosis and spinal anomaly signal.The course of 1 5 cases were shortened after treated by physical in 37 cases of SCD with secondary spinal canal. Conclusion The secondary spinal canal stenosis can cause microcirculation dysfunction of the spinal cord,which is a key factor contributing to the imaging manifestation.
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Objective To observe the MRI characteristics in subacute combined degeneration (SCD)of the spinal cord.Methods The data of 1 9 SCD patients were retrospectively analyzed by the clinical characteristics and MR images.Results Among the 1 9 pa-tients of SCD,1 6 cases showed abnormal findings.Most of intramedullary lesions located in posterior column of thoracic and cervical spinal cord,and only one case located in cerebellar cortex and medulla oblongata.Lesions were involved in muti-segmental spinal cord,and mainly located in the dorsal or lateral spinal cord,and only two cases located in the anterior spinal cord.Different segmental spinal cord lesions had a different morphological characteristics with no enhancement.After treatments with vitamin B1 2 ,the lesions diminished and even disappeared in 2 cases.Conclusion MRI has important value in the diagnosis and treatment monitor of the SCD.
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Vitamin B12 is one of the essential vitamins affecting various systems of the body. Cases of neuropsychiatric disorders due to its deficiency are more common in elderly patients with a prevalence rate of 10-20%; however there have been few cases reported in children and adolescents as well. The most common psychiatric symptoms reported in the literature associated with vitamin B12 deficiency was depression, mania, psychotic symptoms, cognitive impairment, dementia,delirium, acute confusional states and obsessive compulsive disorder. Subacute combined degeneration (SCD) is a neurological complication of vitamin B12 deficiency, characterized by demyelination of the dorsal and lateral spinal cord. With an early diagnosis and treatment, further development of symptoms can be prevented, before psychosis; dementia and severe depression can develop. The treatment is simple and effective and often gives very good results in these symptoms. Here we have reported a case of vitamin B12 deficiency in 19 years old, male who presented with months history of paraparesis and 3 months history of psychosis. The patient was non vegetarian. Past medical history, was insignificant. Premorbid personality was unremarkable with no substance use/ exposure or infections. No stressors were present. He was diagnosed with sub acute combined degeneration with psychosis due to vitamin B12 deficiency. He was treated with antipsychotics and parenteral vitamin B12. Patient improved but some residual weakness persisted in lower limbs after 10 days of parental treatment with Vitamin B12.
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No abstract available.
Subject(s)
Magnetic Resonance Imaging , Subacute Combined DegenerationABSTRACT
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.