Subacute Combined Degeneration of the Spinal Cord Induced by Nitrous Oxide Abuse: A Rare Patient Presentation to a Spine Surgery Clinic: Illustrative Case.

Subacute combined degeneration (SCD) of the spinal cord is a disease involving the lateral and posterior columns of the spinal cord that can manifest in patients with vitamin B12 deficiency. Nitrous oxide (N2O)-induced SCD of the spinal cord is a result of N2O interfering with the metabolism of vitamin B12 and results in nervous system demyelination. This is an infrequent complication of N2O anesthesia; however, cases are rising with recreational N2O use. This case report describes a patient with SCD of the spinal cord induced by recreational N2O abuse. The patient presented to a spine surgery clinic with a 3-week history of progressive global weakness and paresthesias. After a detailed history and physical examination, the diagnosis was made and supported by various tests and imaging findings. Despite marked neurologic deficits, the patient's symptoms improved markedly with therapy and vitamin B12 supplementation. Spine surgery clinicians may be confronted with these cases and should be aware of this atypical presentation of SCD. As in our case, patients may present with neurologic deficits of unclear etiology. Neurologic dysfunction may be irreversible; therefore, accurate diagnosis, medical treatment, and complete neurologic evaluation are of the utmost importance to prevent additional progression.

Degeneración combinada subaguda / Subacute combined degeneration

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.

An unusual case of subacute combined degeneration due to nitrous oxide abuse, which relapsed after bariatric surgery: A case report.

RATIONALE: Several studies have reported subacute combined degeneration (SCD) induced by nitrous oxide (N2O) abuse. However, few studies have reported that N2O-induced SCD recurred because of sleeve gastrectomy after neurological symptoms improved. PATIENT CONCERNS: We report the case of an 18-year-old woman who developed paresthesia, weakness in 4 limbs, and an unstable gait after frequent, excessive N2O inhalation. DIAGNOSIS: The patient was diagnosed as having SCD. INTERVENTIONS AND OUTCOMES: Nineteen days after intravenous mecobalamin and supplementation with other kinds of vitamin B, her weakness and paresthesia resolved. However, 7 months after discharge, the patient experienced recurrence following sleeve gastrectomy. Blood biochemistry revealed low vitamin B12 levels. After a 22-day treatment, similar to the first hospitalization, her residual numbness and unsteady gait improved. LESSONS: This case highlights that patients, especially those at high risk of vitamin B12 deficiency, undergoing sleeve gastrectomy require careful nutritional follow-up and routine monitoring of micronutrients such as vitamin B12 and homocysteine. Continuous vigilance is essential for patients with common and rare neurological complications.

A case report: subacute combined degeneration of the spinal cord and pernicious anemia caused by autoimmune gastritis.

INTRODUCTION: Autoimmune gastritis causing both subacute combined degeneration of the spinal cord and pernicious anemia is rare in clinical practice. Here, we report a case of subacute combined degeneration of the spinal cord and pernicious anemia resulting from vitamin B12 deficiency due to autoimmune gastritis. PATIENT CONCERNS: A 66-year-old woman presented with a 2-month history of numbness in her extremities. DIAGNOSES: The diagnoses were (1) autoimmune gastritis (2) subacute combined degeneration of the spinal cord (3) pernicious anemia (4) hypergastrinemia (5) chronic lymphocytic thyroiditis. INTERVENTIONS: The patient received intramuscular methylcobalamin treatment for 5 days, followed by oral methylcobalamin daily.Outcomes: Symptoms improved, and anemia recovered in the second month after discharge. She discontinued her medication afterward, and the neurological symptoms recurred. CONCLUSIONS: Autoimmune gastritis can lead to several diseases if not intervened in the early course. Neuropathy and hematopathy recur with treatment discontinuity. Methylcobalamin and adenosylcobalamin are unlikely to be more effective than vitamin B12.

Myelopathy associated with intrathecal methotrexate.

A 21-year-old man developed progressive and bilateral lower limb numbness, gait impairment and urinary incontinence over 10 days. He had received intrathecal methotrexate 20 days previously for acute lymphoblastic B-cell leukaemia, following 7 months of systemic chemotherapy. MR scan of the spinal cord showed bilateral symmetric and extensive T2/fluid attenuated inversion recovery (FLAIR) increased signal involving the dorsal columns in the thoracic cord. His serum folate concentration was at the lower end of the normal range. We stopped the intrathecal chemotherapy and gave folate; after a few days, he progressively improved. Myelopathy is an important adverse effect of intrathecal methotrexate, which may cause clinical and imaging features resembling subacute combined degeneration of the spinal cord. CNS infiltration must be excluded, intrathecal chemotherapy stopped and deficiency of folate or vitamin B12 treated as appropriate.

[A case of subacute combined degeneration of spinal cord caused by inhaling laughing gas].

Laughing gas (Nitrogen monoxide) is currently abused due to its low price and easy availability. This article discussed the clinical manifestations of a patient with subacute combined degeneration of the spinal cord caused by inhalation of laughing gas. The patient developed numbness of extremities, unstable walking, and decreased serum vitamin B(12) level. MRI of the cervical spine showed abnormal signals in the lateral and posterior cords of the cervical spinal cord (C2-6) , neuroelectrophysiological examination showed peripheral nerve damage in the extremities. After treatment with vitamin B(12) supplementation, the patient's condition gradually improved. Clinicians diagnose subacute combined degeneration of the spinal cord, especially when the patient has no gastrointestinal disease, diet, malnutrition, etc., they need to carefully inquire about the history of nitrous oxide inhalation to avoid missed diagnosis.

Autoimmune gastritis concomitant with gastric adenoma and subacute combined degeneration of the spinal cord.

A 62-year-old woman was referred to our department for further investigation of anaemia. Blood test showed macrocytic anaemia. Oesophagogastroduodenoscopy (OGD) revealed proximal-predominant gastric atrophy and flat elevated lesion in the gastric body. Several days after OGD, she complained of gait disturbance and was diagnosed with subacute combined degeneration of the spinal cord. Furthermore, laboratory tests showed positive for both anti-parietal cell and anti-intrinsic factor antibodies, as well as increased serum gastrin level and decreased pepsinogen I level, which confirmed the diagnosis of autoimmune gastritis (AIG). Anaemia and neurological symptoms were improved after vitamin B12 supplementation. Subsequently, the patient underwent gastric endoscopic submucosal dissection; histopathological examination revealed gastric adenoma. AIG can cause gastric neoplasms and vitamin B12 deficiency, with the latter resulting in pernicious anaemia and neurological disorders. These diseases are treatable but potentially life-threatening. This case highlights the importance of early diagnosis of AIG and proper management of its comorbidities.

A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.

BACKGROUND: Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12 deficiency and proteinuria. CASE PRESENTATION: A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B12 and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic 'inverted V sign'. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B12 deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin. CONCLUSIONS: This case report presents a rare occurrence of severe vitamin B12 deficiency due to Imerslund-Gräsbeck syndrome masked by co-existent α-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies.

Subacute combined degeneration of the spinal cord with concomitant autoimmune disease: report of 2 cases

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.

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

INTRODUCTION: Neurological diseases can be due to direct diseases of the central nervous system (CNS) or peripheral nervous system (PNS) or be a bystander syndrome of systemic diseases. Treatment options depend on the cause. Toxic, metabolic and nutritional, and immune-mediated consequences of clinically occult neoplasms produce a spectrum of neurological diseases, recognition of which has therapeutic and prognostic importance. PATIENTS AND METHODS: Children, as well as adults who presented to the authors in the last 5 years with neurological diseases and later their diseases could be diagnosed or attributed to neoplasms which were occult, were included for the study. OBSERVATION: 28 patients were seen by the authors in the last 5 years with neurological manifestation and hidden tumor. Maximum incidence was in the age of above 60 years followed by the age group of 21-40 years. The commonest neurological presentation was muscle and nerve in adults and seizure in children. DISCUSSION: Short duration, rapid progression, severe weight loss, and poor response to treatment given for nontumor associated neurological syndrome are the red flags which point to the diagnosis. CONCLUSION: Seizures and psychosis formed the commonest features in children, muscle and nerve in adults. Short duration, rapid progression, and resistance to treatment are the markers for possible underlying neoplasm.

Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review.

Objective: Anterior funiculus lesion is uncommon in subacute combined degeneration of the spinal cord with few data available. Aim of the study was to describe a case with the rare manifestation and summarize existing literatures.Methods: We report a case of a 42-year-old woman with anterior and lateral funiculus lesions on cervicothoracic spine magnetic resonance imaging, who presented with unsteady gait, sensory level and weakness of lower limbs. Besides, we reviewed and analyzed literatures about subacute combined degeneration of the spinal cord with anterior funiculus lesions published during the past two decades.Results: The diagnosis of subacute combined degeneration of the spinal cord was considered due to her presence of low serum vitamin B12 levels, pernicious anemia and gastric carcinoid.Conclusion: Physicians should consider subacute combined degeneration of the spinal cord as a possible differential diagnosis when faced with atypical lesions distributed in the anterior funiculus.

Deficiencia de vitamina B 12: una presentación atípica / Vitamin B12 deficiency: an atypical presentation

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.

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.

RATIONALE: Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children. Here, we report 2 pediatric cases of SCD in late-onset cobalamin C (CblC) deficiency. PATIENT CONCERNS: The patients complained of unsteady gait. Their physical examination showed sensory ataxia. Magnetic resonance imaging showed classic manifestations of SCD. The serum vitamin B12 level was normal, but urine methylmalonic acid and serum homocysteine levels were high. DIAGNOSIS: The pathogenic gene was confirmed as MMACHC. The 2 patients each had 2 pathogenic mutations C.482 G>A and C.271dupA and C.365A>T and C.609G>A in this gene. They were diagnosed with combined methylmalonic acidemia and homocysteinemia-CblC subtype. INTERVENTIONS: The patients were treated with methylcobalamin 500 µg intravenous injection daily after being admitted. After the diagnosis, levocarnitine, betaine, and vitamin B12 were added to the treatment. OUTCOMES: Twelve days after treatment, the boy could walk normally, and his tendon reflex and sense of position returned to normal. The abnormal gait seemed to have become permanent in the girl and she walked with her legs raised higher than normal. LESSONS: To the best of our knowledge, this is the first report of 2 cases of isolated SCD in children with late-onset CblC disorder. Doctors should consider that SCD could be an isolated symptom of CblC disorder. The earlier the treatment, the lower the likelihood of sequelae.

Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction: A case report.

RATIONALE: There have been a few reported cases of subacute combined degeneration (SCD) associated with vitamin E deficiency, but the period of intestinal malabsorption was more than several years. We present a rare case of acute onset SCD that occurred in a relatively short period of several weeks with vitamin E deficiency related to small bowel obstruction. PATIENT CONCERNS: A 50-year-old woman had abdominal pain. A small bowel obstruction was suspected and conservative treatment was performed. She underwent bowel surgery after 2 weeks without any improvement. Following the operation, she was in a state of reduced consciousness. She was treated in an intensive care unit. Her consciousness level gradually recovered to alert in a week, but other symptoms such as ataxia, weakness on limbs, severe dysarthria, and dysphagia occurred. Since then, she had spent nearly 6 weeks in a bed-ridden state without improving. DIAGNOSIS: SCD associated with vitamin E deficiency was confirmed by laboratory investigations, electrophysiologic test, and whole spine magnetic resonance imaging scans. INTERVENTIONS: For vitamin E supplementation, she was administered a dose of 1200 mg/d. Physical therapy was focused on strengthening exercise, balance, and walker gait training. Occupational therapy was focused on activities of daily living training and dysphagia rehabilitation. OUTCOMES: After 6 weeks, her muscle strengths and functional level were substantially improved. The vitamin E level was recovered to normal range. LESSONS: This case suggests that if neurological symptoms occur in patients with intestinal obstruction, clinicians need to consider a deficiency of micronutrients such as vitamin E and vitamin B12. Patients with short clinical courses suffer less neurological damage and achieve faster recovery.

Subacute Combined Degeneration of the Spinal Cord and Hydrocephalus Associated with Vitamin B12 Deficiency.

BACKGROUND: This study aimed to report the case of a patient who presented with depression, cognitive impairment, ataxic gait, and urinary incontinence associated with vitamin B12 deficiency. CASE DESCRIPTION: Serum vitamin B12 level was low in this patient, and anti-intrinsic factor antibody was positive. Neuroimaging revealed abnormal hyperintense signals in the cerebellum and dorsal and lateral columns of the spinal cord, and obstructive hydrocephalus. A biopsy of the stomach revealed chronic gastritis, intestinal metaplasia, and atrophy. After 3 months of initiating methylcobalamin therapy, significant improvement was noticed clinically, and brain magnetic resonance imaging was near to normal. CONCLUSIONS: This study was novel in reporting subacute combined degeneration of the spinal cord and hydrocephalus associated with vitamin B12 deficiency in adults.