Subacute combined degeneration of spinal cord

Subacute combined degeneration of spinal cord

Diagram of the principal fasciculi of the spinal cord. (In subacute combined degeneration of spinal cord, the "combined" refers to the fact that the dorsal columns and lateral corticospinal tracts are both affected, in contrast to tabes dorsalis which is selective for the dorsal columns.)
Classification and external resources
Specialty	endocrinology
ICD-10	G32.0, E53.8
ICD-9-CM	336.2, 266.2
DiseasesDB	12591
MedlinePlus	000723
MeSH	D052879

Subacute combined degeneration of spinal cord, also known as Lichtheim's disease,^[1]^[2] refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B₁₂ deficiency (most common), vitamin E deficiency,^[3] and copper deficiency.^[4] It is usually associated with pernicious anemia.

Etiologies

This condition can be due to a dietary deficiency of B12, malabsorption of B12 in the terminal ileum, lack of intrinsic factor secreted from gastric parietal cells, low gastric pH inhibiting attachment of intrinsic factor to ileal receptors.^[5]

Vitamin E deficiency, which is associated with malabsorption disorders such as cystic fibrosis and Bassen-Kornzweig syndrome,^[6] can cause a similar presentation due to the degeneration of the dorsal columns.^[3]

Presentation

The onset is gradual and uniform. The pathological findings of subacute combined degeneration consist of patchy losses of myelin in the dorsal and lateral columns. Patients present with weakness of legs, arms, trunk, tingling and numbness that progressively worsens. Vision changes and change of mental state may also be present. Bilateral spastic paresis may develop and pressure, vibration and touch sense are diminished. A positive Babinski sign may be seen.^[7] Prolonged deficiency of vitamin B₁₂ leads to irreversible nervous system damage. HIV-associated vacuolar myelopathy can present with a similar pattern of dorsal column and corticospinal tract demyelination.

If someone is deficient in vitamin B₁₂ and folic acid, the vitamin B₁₂ deficiency must be treated first to avoid precipitating subacute combined degeneration of the cord (giving folic acid first will turn the remaining B12 into methylcobalamin which will not be able to participate in fatty acid metabolism).

Administration of nitrous oxide anesthesia can precipitate subacute combined degeneration in people with subclinical vitamin B12 deficiency, while chronic nitrous oxide exposure can cause it even in persons with normal B12 levels. Posterior column dysfunction decreases vibratory sensation and proprioception (joint sense). Lateral corticospinal tract dysfunction produces spasticity and dorsal spinocerebellar tract dysfunction causes ataxia.

Tests

Serum B12, Malonic Acid, Methylmalonic Acid, Schilling Test, Complete Blood Count- looking for megaloblastic anemia if there is also folic acid deficiency or macrocytic anemia

MRI- T2 images may reveal increased signal within the white matter of the spinal cord predominately in the posterior columns but also may be in the spinothalamic tracts.

Treatment

Therapy with vitamin B₁₂ results in partial to full recovery, depending on the duration and extent of neurodegeneration.

References

↑ synd/492 at Who Named It?
↑ L. Lichtheim. Zur Kenntnis der perniciösen Anämie. Verhandlungen des Deutschen Kongress für innere Medizin, 1889, 6: 84-96. 42: 1887.
1 2 Agamanolis, Dimitri P. (July 2014). "Nutritional CNS Disorders". Retrieved 13 September 2014. Clinically, vitamin E deficiency causes a sensory peripheral neuropathy, ataxia, retinitis pigmentosa, and skeletal and cardiac myopathy. Neuropathological examination in such cases reveals loss of dorsal ganglionic neurons with degeneration of their peripheral and central axons (peripheral neuropathy and posterior column degeneration respectively). Neuroaxonal swellings are seen in the gracile and cuneate nuclei. Similar changes can be produced in rats and monkeys with experimental vitamin E deprivation.
↑ Kumar N, Gross JB Jr, Ahlskog JE. Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration. Neurology. 2004 Jul 13;63(1):33-9.
↑ Greenburg, Mark (2010). Handbook of Neurosurgery 7th Edition. New York: Thieme Publishers. pp. 1187–1188. ISBN 978-1-60406-326-4.
↑ Agamanolis, Dimitri P. (July 2014). "Nutritional CNS Disorders". Retrieved 13 September 2014. Deficiency of the lipid-soluble vitamin E occurs in cases of intestinal malabsorption such as cystic fibrosis, congenital biliary atresia, intestinal resection, and abetalipoproteinemia (Bassen-Kornzweig syndrome).
↑ Hemmera B et al. Subacute combined degeneration: clinical, electrophysiological, and magnetic resonance imaging findings. J Neurol Neurosurg Psychiatry 1998;65:822-827 doi:10.1136/jnnp.65.6.822

External links

Malnutrition or nutrition disorders (E40–E68, 260–269)

Malnutrition

Protein-energy
malnutrition

Vitamin deficiency

B vitamins	B₁: Beriberi / Wernicke–Korsakoff syndrome (Wernicke's encephalopathy Korsakoff's syndrome) B₂: Riboflavin deficiency B₃: Pellagra (Niacin deficiency) B₆: Pyridoxine deficiency B₇: Biotin deficiency B₉: Folate deficiency B₁₂: Vitamin B₁₂ deficiency

Other vitamins	A: Vitamin A deficiency/Bitot's spots C: Scurvy D: Vitamin D deficiency/Rickets/Osteomalacia E: Vitamin E deficiency K: Vitamin K deficiency

Mineral
deficiency

Overnutrition

Overweight Obesity	Childhood obesity Obesity hypoventilation syndrome Abdominal obesity

Vitamin poisoning	Hypervitaminosis A Hypervitaminosis D Hypervitaminosis E

Mineral overload	see inborn errors of metal metabolism, toxicity

Pathology of the nervous system, primarily CNS (G04–G47, 323–349)

Inflammation

Brain	Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic

Spinal cord	Myelitis: Poliomyelitis Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess

Both/either	Encephalomyelitis Acute disseminated Myalgic Meningoencephalitis

Brain/
encephalopathy

Degenerative

Extrapyramidal and movement disorders	Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff person

Dementia	Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia/Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia

Mitochondrial disease	Leigh disease

Demyelinating

Episodic/
paroxysmal

Seizure/epilepsy	Focal Generalised Status epilepticus Myoclonic epilepsy

Headache	Migraine Familial hemiplegic Cluster Tension

Cerebrovascular	TIA Amaurosis fugax Transient global amnesia Acute aphasia Stroke MCA ACA PCA Foville's Millard–Gubler Lateral medullary Weber's Lacunar stroke

Sleep disorders	Insomnia Hypersomnia Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag

CSF

Other

Spinal cord/
myelopathy

Both/either

Degenerative

SA	Friedreich's ataxia Ataxia telangiectasia

MND	UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA SMA-PCH SMA-LED SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis

Lesions of spinal cord and brain

Spinal cord/
vascular myelopathy

sensory: Sensory ataxia
Tabes dorsalis

motor: Motor neurone disease

mixed: Brown-Séquard syndrome
cord syndrome (Posterior
Anterior
Central/Syringomyelia)
Subacute combined degeneration of spinal cord (B12)
Cauda equina syndrome

Anterior spinal artery syndrome

Brainstem

Medulla (CN 8, 9, 10, 12)	Lateral medullary syndrome/Wallenberg PICA Medial medullary syndrome/Dejerine ASA

Pons (CN 5, 6, 7, 8)	Upper dorsal pontine syndrome/Raymond Céstan syndrome Lateral pontine syndrome (AICA) (lateral) Medial pontine syndrome/Millard-Gubler syndrome/Foville's syndrome(basilar) Locked-in syndrome Internuclear ophthalmoplegia One and a half syndrome

Midbrain (CN 3, 4)	Weber's syndrome ventral peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Nothnagel's syndrome Claude's syndrome

Other	Alternating hemiplegia

Thalamic syndrome

Other

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