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Subacute combined degeneration of the spinal cord due to vitamin B12 deficiency

Authors:
Jon Fenton
Jon Fenton
Jon Fenton
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Sanjeev Rajakulendran at University College London Hospitals NHS Foundation Trust
Sanjeev Rajakulendran
Roger J Chinn at Chelsea and Westminster Hospital NHS Foundation Trust
Roger J Chinn
John C Janssen at National Health Service
John C Janssen
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BMJ Case Reports 2011; doi:10.1136/bcr.03.2011.4030 1 of 3
DESCRIPTION
A previously healthy 82-year-old lady presented with
abnormal sensation in her fi ngers which she described as
‘feeling like bananas’. There was an additional history of
deteriorating handwriting and a sense of imbalance when
walking dating back 6 months. She obtained a score of 26
out of 30 on the mini mental state examination. She had
gait ataxia, being unable to perform tandem gait. There was
no convincing pseudoathetosis of the outstretched hands.
She had slow, clumsy fi ne fi nger movements and her diary
entries had become progressively illegible. Proprioception
was abnormal in the toes and vibration sense was lost to
the level of the costal margins. Refl exes were brisk in the
arms but depressed in the legs. Plantar responses were
fl exor. Her serum vitamin B
12 level was 83 (160–800) ng/l.
Intrinsic factor antibodies were negative. Parietal cell
Images in...
Subacute combined degeneration of the spinal cord due to
vitamin B
12 defi ciency
Jon Fenton, 1 Sanjeev Rajakulendran, 2 Roger Chinn, 3 John C Janssen 2
1 Medicine, Chelsea and Westminster NHS Foundation Trust, Fulham Road, London, UK ;
2 Neurology, Chelsea and Westminster NHS Foundation Trust, Fulham Road, London, UK ;
3 Radiology, Chelsea and Westminster NHS Foundation Trust, Fulham Road, London, UK
Correspondence to Dr John Janssen, John.Janssen@Chelwest.nhs.uk
Figure 1 Sagittal section of T2-weighted MRI of the cervical spine, showing patchy high-signal intensity in the posterior spinal cord, seen
clearly extending from the C2 to C6 vertebrae.
BMJ Case Reports 2011; doi:10.1136/bcr.03.2011.4030
2 of 3
antibodies were positive. Zinc and copper studies were
satisfactory. Brain MRI revealed some cerebral atrophy
and evidence of small vessel disease. Whole spine MRI
revealed high-signal change in the dorsal columns, particu-
larly in the cervical and upper thoracic cord ( fi gures 1 and
2 ). There was an improvement in handwriting and gait fol-
lowing treatment.
Recognising subacute combined degeneration of the spi-
nal cord due to vitamin B
12 defi ciency is an important treat-
able cause of progressive neurological disability. Symptom
onset is often with a vague sensation of weakness and par-
asthaesia. The ‘pins and needles’ usually involve the hands
more than the feet and tend to be progressive. As the illness
progresses, an ataxic paraplegia develops.
1 There may be
additional affective/behavioural or cognitive changes and
in a subgroup of patients, these symptoms may precede
any cord symptoms.
2 The initial neurological examination
may be normal. Later, examination is consistent with a dis-
order of the dorsal and lateral columns of the spinal cord
with loss of vibration sense and impaired proprioception
being the most reliable signs.
The diagnosis is confi rmed by means of blood tests that
show a low serum vitamin B
12 level and MRI of the spinal
cord. Interestingly, there may not be a macrocytic anaemia
and it is thought that the degree of anaemia may correlate
inversely with any neurological signs and symptoms.
2 A
normal vitamin B
12 level should raise the possibility of cop-
per defi ciency.
3
Early replenishment of vitamin B
12 body stores is asso-
ciated with a better prognosis and reduces the likelihood
of long-term residual disability.
2 Many neurologists would
treat immediately after taking a blood sample, that is,
before the results became available, if the clinical diagnosis
was suspected.
Acknowledgements The authors wish to thank Dr Fatemeh Geranmayeh,
Specialist Registrar in Neurology and Dr Sheldon Zheng, Foundation Year 1
doctor.
Competing interests None.
Patient consent Obtained.
REFERENCES
1 . Savage DG, Lindenbaum J . Neurological complications of acquired cobalamin
defi ciency: clinical aspects. Baillieres Clin Haematol 1995 ; 8 : 657 – 78 .
2 . Reynolds E . Vitamin B12, folic acid, and the nervous system . Lancet
Neurology 2006 ; 5 : 949 – 60 .
3 . Jaiser SR, Winston GP . Copper defi ciency myelopathy. J Neurol
2010 ; 257 : 869 – 81 .
Figure 2 Axial section of T2-weighted MRI of the cervical spine, demonstrating symmetrical high-signal intensity in the dorsal columns of
the spinal cord.
BMJ Case Reports 2011; doi:10.1136/bcr.03.2011.4030 3 of 3
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Please cite this article as follows (you will need to access the article online to obtain the date of publication).
Fenton J, Rajakulendran S, Chinn R, Janssen JC. Subacute combined degeneration of the spinal cord due to vitamin B12 defi ciency.
BMJ Case Reports 2011;10.1136/bcr.03.2011.4030, date of publication
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... In humans, these include myelopathy and neuropathy in the form of paresthesia, ataxia, proprioception and vibration loss, abnormal reflexes, weakness, pain, and loss of sensation in hands and feet (15)(16)(17). The clinical presentation is ABBREVIATIONS: aCSF, artificial cerebrospinal fluid; CAP, compound action potential; CBC, complete blood count; Cbl, cobalamin; ESI, electrospray ionization; GFAP, glial fibrillary acidic protein; HCT, hematocrit; HCY, homocysteine; HGB, hemoglobin; HIAA, 5-hydroxyindoleacetic acid; HSD, honest significant difference; HT, 5-hydroxytryptamine; Iba, ionized calcium binding protein; MBP, myelin basic protein; MCH, mean corpuscular hemoglobin; MMA, methylmalonic acid; MMCoA, methylmalonyl-coenzyme A; MS, methionine synthase; RDW, red cell distribution width; SAH, S-adenosylhomocysteine; SAM, S-adenosyl methionine; SC, spinal cord; SN, sciatic nerve; TC, transcobalamin; TCA, tricarboxylic acid; TCblR, transcobalamin receptor associated with loss of myelin in the peripheral nerves and the spinal cord (SC) (18,19). Neuropsychiatric manifestations, such as depression, mania, delirium, and cognitive impairment, are also frequently observed in Cbl-deficient patients, but the metabolic basis for the neuropathologic changes contributing to the clinical phenotype remains unexplained (20,21). ...
... WBC (K/ml) 18 ...
Neuropathology of vitamin B12 deficiency in the Cd320 mouse
Article
Full-text available
In humans, vitamin B12 deficiency causes peripheral and CNS manifestations. Loss of myelin in the peripheral nerves and the spinal cord (SC) contributes to peripheral neuropathy and motor deficits. The metabolic basis for the demyelination and brain disorder is unknown. The transcobalamin receptor–knockout mouse (Cd320−/−) develops cobalamin (Cb1) deficiency in the nervous system, with mild anemia. A decreased S‐adenosylme‐thionine:S‐adenosylhomocysteine ratio and increased methionine were seen in the brain with no significant changes in neurotransmitter metabolites. The structural pathology in the SC presented as loss of myelin in the axonal tracts with inflammation. The sciatic nerve (SN) showed increased nonuniform, internodal segments suggesting demyelination, and remyelination in progress. Consistent with these changes, the Cd320−/− mouse showed an increased latency to thermal nociception. Further, lower amplitude of compound action potential in the SN suggested that the functional capacity of the heavily myelinated axons were preferentially compromised, leading to loss of peripheral sensation. Although the metabolic basis for the demyelination and the structural and functional alterations of the nervous system in Cb1 deficiency remain unresolved, the Cd320−/− mouse provides a unique model to investigate the pathologic consequences of vitamin B12 deficiency.—Arora, K., Sequeira, J. M., Alarcon, J. M., Wasek, B., Arning, E., Bottiglieri, T., Quadros, E. V. Neuropathology of vitamin B12 deficiency in the Cd320−/− mouse. FASEB J. 33, 2563–2573 (2019). www.fasebj.org
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... eripheral neuropathy can occur due to metabolic, nutritional, infectious, hereditary or autoimmune causes. 1 Acute inflammatory demyelinating polyradiculoneurop- athy (AIDP) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are well known entities of autoimmune-mediated demyelinating neuropathy. 2 deficiency, an important nutritional factor for peripheral neuropathy and myelopathy, causes subacute combined degeneration (SCD) with neuroimaging 3 and electrodiagnostic 4 (EDx) features. From the past decade, copper deficiency (CD) has also been implicated to causing myeloneuropathy with axonal degeneration mimicking SCD. ...
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Rehabilitation of the patient with subacute combined degeneration of the spinal cord in the course of vitamin B12 deficiency
Article
  • Dec 2013
Objective. We present a case of a man diagnosed with the spinal cord degeneration (SCD) in the course of vitamin B12 deficiency, along with the rehabilitation used in his therapy. Case. The first symptoms occurred in December 2011. The reason for the patient's functional dysfunction was recognised in January 2012, and the patient was subsequently admitted to the rehabilitation unit in June 2012. After the rehabilitation, his stability of posture and gait efficiency were improved. Commentary. This case shows that it may be essential for the SCD patients to undergo rehabilitation to speed their recovery. Rehabilitation should be considered as an integral part of the treatment of people suffering from SCD.
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Copper deficiency myelopathy
Article
Full-text available
  • Mar 2010
  • J NEUROL
Acquired copper deficiency has been recognised as a rare cause of anaemia and neutropenia for over half a century. Copper deficiency myelopathy (CDM) was only described within the last decade, and represents a treatable cause of non-compressive myelopathy which closely mimics subacute combined degeneration due to vitamin B12 deficiency. Here, 55 case reports from the literature are reviewed regarding their demographics, aetiology, haematological and biochemical parameters, spinal imaging, treatment and outcome. The pathophysiology of disorders of copper metabolism is discussed. CDM most frequently presented in the fifth and sixth decades and was more common in women (F:M = 3.6:1). Risk factors included previous upper gastrointestinal surgery, zinc overload and malabsorption syndromes, all of which impair copper absorption in the upper gastrointestinal tract. No aetiology was established in 20% of cases. High zinc levels were detected in some cases not considered to have primary zinc overload, and in this situation the contribution of zinc to the copper deficiency state remained unclear. Cytopenias were found in 78%, particularly anaemia, and a myelodysplastic syndrome may have been falsely diagnosed in the past. Spinal MRI was abnormal in 47% and usually showed high T2 signal in the posterior cervical and thoracic cord. In a clinically compatible case, CDM may be suggested by the presence of one or more risk factors and/or cytopenias. Low serum copper and caeruloplasmin levels confirmed the diagnosis and, in contrast to Wilson's disease, urinary copper levels were typically low. Treatment comprised copper supplementation and modification of any risk factors, and led to haematological normalisation and neurological improvement or stabilisation. Since any neurological recovery was partial and case numbers of CDM will continue to rise with the growing use of bariatric gastrointestinal surgery, clinical vigilance will remain the key to minimising neurological sequelae. Recommendations for treatment and prevention are made.
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11 Neurological complications of acquired cobalamin deficiency: clinical aspects
Article
Full-text available
  • Oct 1995
  • Bailliere Clin Haematol
Neuropsychiatric syndromes occur in about 40% of Cbl-deficient patients and are characterized by progressive and variable damage to the spinal cord, peripheral nerves and cerebrum. The first abnormality is usually sensory impairment, most often presenting as distal and symmetrical paraesthesiae of the lower limbs and frequently associated with ataxia. Almost all patients demonstrate loss of vibratory sensation, often in association with diminished proprioception and cutaneous sensation and a Romberg sign. Corticospinal tract involvement is common in more advanced cases, with abnormal reflexes, motor impairment and, ultimately, spastic paraparesis. A minority of patients exhibit mental or psychiatric disturbances or autonomic signs, but these rarely if ever occur in the absence of other neurological changes. Because N2O inactivates Cbl, abuse of the gas may lead to typical Cbl neuropathy. Haematological changes are minimal and serum Cbl levels and Schilling tests normal in most patients. The severity of neurological abnormalities prior to treatment correlates with the duration of symptoms and the haemoglobin level. Initial severity, symptom duration and initial haemoglobin also correlate with residual neurological damage after Cbl therapy. The inverse correlation between severity of anaemia and neurological damage is not understood. Diagnosis of Cbl neuropathy can usually be made in the presence of the typical neuropsychiatric abnormalities, a low serum Cbl level and evidence of megaloblastic haemopoiesis. In some patients serum MMA and HCYS determinations or a therapeutic trial may be required. A neurological response usually occurs within the first 3 months, although further improvement may occur with time. Patients with advanced disease may be left with major residual disability. Therefore early diagnosis is critical. Pharmacological doses of folic acid reverse the haematological abnormalities of Cbl deficiency. This may allow neuropathy to develop or progress and make recognition of deficiency more difficult. There is no clear evidence that folic acid therapy precipitates or exacerbates Cbl neuropathy. Haematological improvement may occur in a fraction of patients receiving small doses of folate, but the data are inadequate to predict the danger of low levels of folate supplementation in the general population.
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Vitamin B12, folic acid, and the nervous system
Article
  • Dec 2006
  • LANCET NEUROL
There are many reasons for reviewing the neurology of vitamin-B12 and folic-acid deficiencies together, including the intimate relation between the metabolism of the two vitamins, their morphologically indistinguishable megaloblastic anaemias, and their overlapping neuropsychiatric syndromes and neuropathology, including their related inborn errors of metabolism. Folates and vitamin B12 have fundamental roles in CNS function at all ages, especially the methionine-synthase mediated conversion of homocysteine to methionine, which is essential for nucleotide synthesis and genomic and non-genomic methylation. Folic acid and vitamin B12 may have roles in the prevention of disorders of CNS development, mood disorders, and dementias, including Alzheimer's disease and vascular dementia in elderly people.
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BMJ Case Reports 2011;10.1136/bcr.03.2011.4030, date of publication Become a Fellow of BMJ Case Reports today and you can: Submit as many cases as you like