Subacute combined degeneration of the spinal cord in a patient with nitrous oxide use and autoimmune atrophic gastritis.

Nitrous oxide is among the most common drugs used by adolescents and young adults, and its neuropsychiatric sequelae are severe but reversible with timely treatment. The causal mechanism relates to impaired metabolism of vitamin B12, which is necessary for the development and maintenance of the myelin sheath. Individuals most susceptible to neuropsychiatric manifestations are those with a secondary cause of vitamin B12 deficiency, including nutritional deficiency and impaired absorption, or an alternative cause of impaired metaboclism. We describe the case of a man in his thirties who developed subacute combined degeneration of the spinal cord and polyneuropathy in the setting of recreational nitrous oxide use and autoimmune atrophic gastritis. Our case highlights clinical pearls for diagnosis and treatment, differential diagnosis, common concomitant aetiologies and the importance of screening for substance use disorder and psychiatric comorbidities.

Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration.

Cobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis, and pulmonary arterial hypertension. CblC deficiency typically presents in the pediatric population but can also present in adulthood. Diagnosis in adults can be challenging due to the rarity of this condition and its myriad clinical presentations. CblC deficiency is treatable, so early diagnosis is important in preventing permanent neurologic damage. Although CblC deficiency results from a defect in vitamin B12 metabolism, B12 levels remain normal. Diagnosis depends on testing metabolites altered by vitamin B12 dysfunction such as methylmalonic acid (MMA) and homocysteine. We presented a case of a 20-year-old woman who presented with chronic progressive lower extremity weakness and sensory changes. She was eventually diagnosed with subacute combined degeneration because of CblC deficiency and effectively treated. This case highlights the importance of considering inborn errors of metabolism in adult patients and including testing of metabolites such as MMA and homocysteine when suspecting vitamin B12 dysfunction.

A case of subacute combined spinal cord degeneration and suspected leukoencephalopathy associated with vitamin B12 deficiency showing improved imaging findings after vitamin B12 administration.

We report a case of subacute combined spinal cord degeneration (SCD) caused by vegetarianism and autoimmune gastritis, which is rarely reported in Japan, and which showed improvement in symptoms and imaging findings after vitamin B12 administration. As delayed treatment can lead to irreversible damage, we suggest that patients with characteristic abnormal signals in the posterior cervical cord should be examined while considering the possibility that SCD may occur even in the absence of a history of gastrectomy or heavy drinking. We also describe the patient's reversible abnormal signals in the cerebral white matter on magnetic resonance imaging, indicative of an early sign of leukoencephalopathy associated with vitamin B12 deficiency. J. Med. Invest. 69 : 299-301, August, 2022.

Neuromyelitis optica spectrum disease coexisting with subacute combined degeneration: a case report.

BACKGROUND: Subacute combined degeneration (SCD) is a demyelinating disease characterized by vitamin B12 deficiency related segmental degeneration of the dorsal or lateral columns of the spinal cord. However, few cases have been reported as a comorbidity of SCD and neuromyelitis optica spectrum disease (NMOSD). CASE PRESENTATION: Herein, we describe a female patient (61-year-old) who had sensory deficits, paresthesia, and weakness of the distal extremities for over 2 months. She then received an initial diagnosis of SCD with typical inverted "V-sigh" hyperintensities over the posterior aspect of the spinal cord in magnetic resonance imaging (MRI - T2-weighted imaging), as well as megaloblastic anaemia in blood examinations. From the past history, there was no evidence of a dietary deficiency or gastric abnormalities. However, traditional treatment with vitamin B12 supplementation was ineffective. Hence, a demyelinating antibody examination showed that she had antibodies targeting aquaporin 4 (AQP4) in both the cerebrospinal fluid and serum, leading to the diagnosis of NMOSD. Her clinical symptoms were obviously improved after treatment with intravenous glucocorticoids. CONCLUSION: People who have nutritional deficiency or altered gastrointestinal function are more likely to develop SCD. This case raises the awareness that the poor therapeutic effects of simple vitamin B12 supplementation could be explained by immunoreactions against AQP4. A better recognition will be of great importance for the correct diagnosis of the comorbidity, as well as for essential treatment and even a better prognosis.

Clinical features of different stage subacute combined degeneration of the spinal cord.

Subacute combined degeneration (SCD), caused by vitamin B12 disorders, leads to severe degeneration of the spinal cord. Thus, it is significant to make timely diagnosis and treatment options of SCD. The objectives were to summarize clinical features of different sate SCD. Clinical data of 42 SCD patients of spinal cord were retrospectively analyzed, which were classified into early stage, middle stage and late stage SCD. Among the patients, 9 were classified into early stage, 22 into middle stage, and 11 into late stage SCD. Total cholesterol and hemoglobin levels were relatively higher in late stage SCD. In contrast, mean corpusular volume (MCV) level was higher in early stage SCD. There were typical abnormalities only in 8 patients on magnetic resonance imaging (MRI), and a dynamia was a common neurological abnormality in all patients. Importantly, the differences in abnormal findings in anti-nuclear antibodies (ANA) testing, visual acuity and fundus testing were statistically significant in different stage SCD (P < .05). There were correlation between most variances with SCD stage. Strikingly, there existed close relationship between enhanced levels of blood glucose (r = -0.289, P = .066), glycated hemoglobin (GHB) (r = -0.288, P = .068) and homocysteine (r = -0.563, P = .000), abnormal visual findings (r = 0.309, P = .049) and megaloblastic anemia (r = -0.295, P = .061) with different SCD stage, among which abnormal visual findings were closely associated with middle stage SCD. Moreover, levels of total cholesterol, blood glucose, homocysteine and abnormal finding of visual acuity were significant in diagnosis and clinical staging of SCD (P < .05). Although MRI scanning and serum vitamin B12 level were widely used for SCD diagnosis, neurological examination and homocysteine level may be more potentially valuable indexes for SCD diagnosis and staging.

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.

Coexistence of Primary Sjögren's Syndrome and Autoimmune Gastritis With Pernicious Anemia and Subacute Combined Degeneration of the Spinal Cord: Case Report and Literature Review.

Background: Autoimmune gastritis (AIG) and Primary Sjögren's syndrome (pSS) are both autoimmune diseases with low prevalence in China. Subacute combined degeneration (SCD) of the spinal cord is the most common neurological manifestation of vitamin B12 deficiency. Until now, a patient with pSS and complications of AIG including SCD has not been reported. Case Presentation: A 69-year-old woman presented with palpitations and symmetrical and progressive numbness in her hands and feet. The patient had a sense of stepping on cotton and could not write or walk without help. We reviewed the patient's history and analyzed her blood tests, imaging, gastroscopic findings, and pathological results. The patient fulfilled the criteria of AIG, pSS, spinal cord SCD and early pernicious anemia (PA) simultaneously. Although pSS can lead to reduction of vitamin B12, this is the first overlapping case of pSS with spinal cord SCD. After symptomatic treatment, the patient returned to a normal life. Conclusions: This first report about the coexistence of pSS and complications of AIG including SCD and PA will promote a better understanding of the relationship between these diseases.

Subacute Combined Degeneration of the Spinal Cord Caused by Autoimmune Gastritis.

A 68-year-old woman presented with a 2-year history of worsening unsteady gait. Her neurological examination revealed peripheral neuropathy with lower limb sensory dominance. T2-weighted imaging revealed a disorder of the posterior cervical cord. Blood test findings revealed vitamin B12 deficiency, and gastroscopy revealed typical findings of autoimmune gastritis. She received vitamin B12 supplementation, but some peripheral neuropathy symptoms persisted due to longstanding vitamin B12 deficiency. Asymptomatic patients should undergo gastroscopy to detect autoimmune gastritis, as chronic vitamin B12 deficiency causes irreversible peripheral neuropathy.

Is serum vitamin B12 decrease a necessity for the diagnosis of subacute combined degeneration?: A meta-analysis.

BACKGROUND: To determine the prevalence of subacute combined degeneration (SCD) patients with normal or elevated serum vitamin B12 level and to identify clinical characteristics of these patients. METHODS: We searched PubMed, EMBASE, and Cochrane library, without language restriction up to June 2019 and included studies with SCD patients who were diagnosed with normal or elevated serum vitamin B12 levels. Meta-analysis was performed to estimate the prevalence of SCD in patients with normal or elevated serum vitamin B12 levels and compare the differences of clinical data between patients with low and no-low serum vitamin B12 level. RESULTS: Six studies were included in our analysis, with a total number of 181 patients involved. The pooled proportion in patients with no-low serum vitamin B12 level was 31.0% (95% confidence interval [CI]: 22.5-40.8). There was no significant difference in the level of hemoglobin (Mean difference (MD): -3.05, 95% CI: -12.42 to 6.33. P = 0.52) and erythrocyte mean corpuscular volume (MD: -2.37, 95% CI: -11.17 to 6.43, P = 0.60) between SCD patients with no-low and those with low serum vitamin B12 levels. The meta-analysis showed that the functional disability rating scale on admission in patients with low serum vitamin B12 level was no worse than that with normal or elevated serum vitamin B12 level (MD: 0.29, 95% CI: -0.58 to 1.16, P = 0.51). CONCLUSION: Decreased level of serum vitamin B12 may not be a necessity for the diagnosis of SCD. Approximately one third of the SCD patients have normal or elevated serum vitamin B12 level. No differences were found in clinical severity between patients with normal or elevated serum vitamin B12 level and those with low level of serum vitamin B12 on admission.

Subacute combined degeneration: a case of pernicious anaemia without haematological manifestations.

Vitamin B12 deficiency can be caused by a diverse group of aetiologies. One of the less common of these is an autoimmune condition pernicious anaemia, so named after the most common physiological manifestation of B12 deficiency: anaemia. However, B12 is also necessary for nervous system function and its depletion can lead to dysfunction of the posterior columns of the spinal cord resulting in subacute combined degeneration (SCD). This disease, while debilitating in its acute phase, can usually be mostly if not fully reversed if caught early and treated appropriately. Early detection can prove challenging if there are no haematological manifestations of B12 deficiency and the only guidance is the high index of suspicion. We present a case of pernicious anaemia leading to SCD without any clinical or laboratory findings of anaemia in this report.

Wilson disease: copper deficiency and iatrogenic neurological complications with zinc therapy.

A 17-year-old female was diagnosed with Wilson disease and commenced on oral zinc therapy. She re-presented 6 months later with a fall and had classical signs of subacute combined degeneration of the spinal cord confirmed on nerve conduction studies, as a result of zinc-induced copper deficiency. After 6 months of copper therapy, she made a complete recovery with no residual neurological deficits. Early detection of zinc-induced copper deficiency and stringent follow-up mechanisms are crucial. Early initiation of copper replacement may both limit and completely reverse neurological deficits.

Pernicious azotaemia? A case series of subacute combined degeneration of the cord secondary to nitrous oxide abuse.

Nitrous oxide abuse is a rare cause of vitamin B12 deficiency and consequent subacute combined degeneration of the spinal cord. Worldwide and Australian statistics indicate that recreational use of nitrous oxide is increasing. We report four cases of females aged 18-24 years presenting with clinical symptoms of subacute combined degeneration of the spinal cord. MRI during admission demonstrated the classic findings of T2 hyperintensity, predominantly within the dorsal columns of the spinal cord, with variable involvement of the lateral corticospinal tracts. These cases highlight the ready availability of nitrous oxide and the fact that heavy prolonged recreational use is occurring in the community. It is important that clinicians in emergency and community settings are alerted to this unusual cause of subacute combined degeneration of the spinal cord because early aggressive vitamin B12 replacement together with behavioural change can reverse this disabling neurological syndrome.

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.