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.

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.

A case of subacute combined degeneration of the spinal cord due to folic acid and copper deficiency.

Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD caused by folic acid and copper deficiency. A 16-year-old male presented with gradually worsening unsteady gait, and bladder and rectal dysfunction. He had a medical history of T-cell acute lymphoblastic leukemia (T-ALL), diagnosed 1.5 years previously. The patient had undergone chemotherapy, including methotrexate, as well as allogeneic bone mallow transplantation. Laboratory tests revealed normal vitamin B12 and methylmalonic acid concentration, but reduced serum copper, ceruloplasmin and folic acid concentrations. Magnetic resonance imaging revealed symmetrical T2 signal hyperintensities in the posterior and lateral spinal cord. The patient was treated with oral copper, oral folate, and intravenous vitamin B12. A month after this treatment, the patient's symptoms were unchanged, and 2 months later he died of acute adrenal insufficiency. The pathological findings of the spinal cord were compatible with SACD. Because SACD is usually reversible with early treatment, it should be suspected in high-risk patients undergoing chemotherapy or those who are malnourished with characteristic symptoms of SACD, even in young patients.

Are PrP(C)s involved in some human myelin diseases? Relating experimental studies to human pathology.

We have experimentally demonstrated that cobalamin (Cbl) deficiency increases normal cellular prion (PrP(C)) levels in rat spinal cord (SC) and cerebrospinal fluid (CSF), and decreases PrP(C)-mRNA levels in rat SC. Repeated intracerebroventricular administrations of anti-octapeptide repeat-PrP(C)-region antibodies to Cbl-deficient (Cbl-D) rats prevent SC myelin lesions, and the administrations of PrP(C)s to otherwise normal rats cause SC white matter lesions similar to those induced by Cbl deficiency. Cbl positively regulates SC PrP(C) synthesis in rat by stimulating the local synthesis of epidermal growth factor (EGF), which also induces the local synthesis of PrP(C)-mRNAs, and downregulating the local synthesis of tumor necrosis factor(TNF)-α, thus preventing local PrP(C) overproduction. We have clinically demonstrated that PrP(C) levels are increased in the CSF of patients with subacute combined degeneration (SCD), unchanged in the CSF of patients with Alzheimer's disease and amyotrophic lateral sclerosis, and decreased in the CSF and SC of patients with multiple sclerosis (MS), regardless of its clinical course. We conclude that SCD (human and experimental) is a neurological disease due to excess PrP(C) without conformational change and aggregation, that the increase in PrP(C) levels in SCD and Cbl-D polyneuropathy and their decrease in MS CNS make them antipodian myelin diseases in terms of quantitative PrP(C) abnormalities, and that these abnormalities are related to myelin damage in the former, and impede myelin repair in the latter.

Helicobacter pylori associated vitamin B12 deficiency, pernicious anaemia and subacute combined degeneration of the spinal cord.

A 23-year-old man presented with weakness in the lower limbs, numbness in hands and feet over past 6 months. Examination revealed a combination of absent ankle jerk, extensor plantar response and reduced sensations in a glove and stocking distribution. MRI of the spinal cord was distinctive of subacute combined degeneration (SACD) of the spinal cord. Serum vitamin B12 was low and anti-intrinsic factor antibodies were positive. A biopsy of the stomach revealed intense inflammatory infiltrates in lamina propria with grade III Helicobacter pylori infection. Other work-up for the cause of vitamin B12 deficiency was unremarkable. H pylori infection triggers autoantibodies by a mechanism of molecular mimicry. This case report highlights H pylori as a causative agent in vitamin B12 deficiency and culminating in SACD of the spinal cord. H pylori treatment reverses the underlying pathogenesis and corrects vitamin B12 deficient state in selected individuals.

Subacute combined spinal cord degeneration and pancytopenia secondary to severe vitamin B12 deficiency / Degenarión combinada subaguda medular y pancitopenia secundaria a déficit severo de vitamina B12

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.

Copper deficiency myelopathy and subacute combined degeneration of the cord - why is the phenotype so similar?

Copper deficiency myelopathy (CDM) is an increasingly recognised mimic of subacute combined degeneration (SCD) of the cord due to cobalamin (vitamin B(12)) deficiency. It has been suggested that copper deficiency induces myelopathy through dysfunction of cytochrome oxidase, which is known to be copper-dependent. However, cytochrome oxidase is not cobalamin-dependent, so this hypothesis fails to explain the phenotypic similarity between CDM and SCD. We propose that the first step in a final common pathway of CDM and SCD is dysfunction of the methylation cycle. This cycle includes both copper and cobalamin-dependent enzymes and catalyses the net transfer of a methyl group from methyltetrahydrofolate to a variety of macromolecules, including myelin proteins. Dysfunction of the cycle might therefore cause failure of myelin maintenance and ultimately myelopathy. One step of the methylation cycle is catalysed by methionine synthase, which is known to be cobalamin-dependent. Nitrous oxide specifically inhibits this enzyme by inactivating methylcobalamin, causing SCD in animals and humans. Both animal and human data suggest that methionine synthase also requires copper, implying that the enzyme may be involved in the pathogenesis of CDM. Another enzyme involved in the methylation cycle, S-adenosylhomocysteine hydrolase, may be regulated by copper. Although this enzyme is not cobalamin-dependent, its potential impairment in copper deficiency may contribute to the overall dysfunction of the methylation cycle. In cases of congenital deficiencies of methylation cycle enzymes, spinal and cerebral demyelination was observed, providing further support for a critical role of the methylation cycle in myelination. Biochemical dysfunction of the methylation cycle has been reported in HIV myelopathy, which has pathological parallels with SCD. This raises the possibility that other demyelinating myelopathies might involve an impairment of the methylation cycle. Our hypothesis could be tested by measuring CSF concentrations of methylation cycle intermediates in cases of CDM, as these reflect spinal cord tissue levels. If it were confirmed, the hypothesis would not only provide a plausible explanation for the phenotypic similarity between CDM and SCD, but might also open up further therapeutic options such as methionine and betaine supplementation.