Contribution of spinal MRI for unsuspected cobalamin deficiency in isolated sub-acute combined degeneration

Maamar, M.; Mezalek, Z. Tazi; Harmouche, H.; Adnaoui, M.; Aouni, M.; Maaouni, A.

doi:10.1016/j.ejim.2007.03.017

Cited by 15 publications

(10 citation statements)

References 6 publications

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“…Early diagnosis and treatment are important in the reversibility of neurological deficits: delayed treatments result in irreversible neurological impairment, even if MRI images appear to return to normal. 8 MRI may widen the differential diagnosis, as other types of myelitis that appear as hyperintense lesions on T2-weighted MRI may be considered, such as infectious or post-infectious (human immunodeficiency virus-related vacuolar myelopathy, herpes), degenerative (multiple sclerosis and transverse myelitis), inflammatory (sarcoidosis), neoplastic or paraneoplastic (astrocytoma, ependymoma, lymphoma), toxic (n-hexane, hexanedione), metabolic and vascular (malformations, ischemia), and post-radiation myelitis. Lesion site and extension are not highly specific but they may be strongly suggestive of the correct diagnosis: in particular, all the other demyelinating diseases typically involve no more than two myomeres and are multiple, while inflammatory or degenerative processes and tumors generally have more significant contrast enhancement.…”

Section: Discussionmentioning

confidence: 99%

Subacute combined degeneration without nutritional anemia

Miscusi

Testaverde

Rago

et al. 2012

Journal of Clinical Neuroscience

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Section: Discussionmentioning

confidence: 99%

Subacute combined degeneration without nutritional anemia

Miscusi

Testaverde

Rago

et al. 2012

Journal of Clinical Neuroscience

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“…Mielopathic signs represent the clinical expression of a subacute degeneration of spinal cord, characterized by multifocal demyelination with vacuolation of dorsal and lateral columns (Smith et al 2006), changes similar to classical adult spinal cord degeneration due to vitamin B12 deficiency (Scalabrino et al 2007;Maamar et al 2008). Brain MRI findings are less specific and include periventricular white matter abnormalities, cortical atrophy, and bilateral ventricular dilatation (Roze et al 2003).…”

Section: Late-onset Formmentioning

confidence: 99%

Cobalamin C defect: natural history, pathophysiology, and treatment

Martinelli

Deodato

Dionisi‐Vici

2010

J of Inher Metab Disea

126

142

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Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible for the Cbl-C defect has been recently identified, and more than 40 mutations have been reported. MMACHC gene is located on chromosome 1p and catalyzes the reductive decyanation of CNCbl. Cbl-C patients present with a heterogeneous clinical picture and, based on their age at onset, can be categorized into two distinct clinical forms. Early-onset patients, presenting symptoms within the first year, show a multisystem disease with severe neurological, ocular, haematological, renal, gastrointestinal, cardiac, and pulmonary manifestations. Late-onset patients present a milder clinical phenotype with acute or slowly progressive neurological symptoms and behavioral disturbances. To improve clinical course and metabolic abnormalities, treatment of Cbl-C defect usually consists of a combined approach that utilizes vitamin B12 to increase intracellular cobalamin and to maximize deficient enzyme activities, betaine to provide a substrate for the conversion of homocysteine into methionine through betaine-homocysteine methyltransferase, and folic acid to enhance remethylation pathway. No proven efficacy has been demonstrated for carnitine and dietary protein restriction. Despite these measures, the long-term follow-up is unsatisfactory especially in patients with early onset, with frequent progression of neurological and ocular impairment. The unfavorable outcome suggests that better understanding of the pathophysiology of the disease is needed to improve treatment protocols and to develop new therapeutic approaches.

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“…A similar observation was later made in several other clinical trials using still lower dose levels [34,36,39]. In 2007, a robust trial demonstrated than an optimal efficacy was obtained with dose levels not exceeding neuropathies, or cognitive dysfunctions are frequent manifestations [3,18,23]. Generally, improvement in neuropsychiatric disorders is less marked if the symptoms have been present for a long time, hence the necessity for early diagnosis and prompt cobalamin supplementation [4,5].…”

Section: Treatmentmentioning

confidence: 57%

The Syndrome of Food-Cobalamin Malabsorption: A Personal View in a Perspective of Clinical Practice

Serraj¹

2011

J Blood Disord Transfus

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SummaryThis article presents recent findings on cobalamin deficiencies due to food-cobalamin malabsorption or nondissociation of vitamin B12 from its carrier proteins syndrome. These findings might be of interest to medical practitioners. This disorder, for which a definitive consensus on the criteria for diagnosis is not yet available, is the leading cause of cobalamin deficiency in the elderly. In practice, food-cobalamin malabsorption is a diagnosis of exclusion, and requires the deductive elimination of all other causes of cobalamin deficiencies, particularly pernicious anaemia. The causes or associated disorders of food-cobalamin malabsorption are multiple and include gastric pathologies, Helicobacter pylori infections and certain drugs (biguanides and proton pump inhibitors). Depending on the disease aetiology, treatment of food-cobalamin malabsorption involves oral supplementation of doses lower than those required for pernicious anaemia.

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Contribution of spinal MRI for unsuspected cobalamin deficiency in isolated sub-acute combined degeneration

Cited by 15 publications

References 6 publications

Subacute combined degeneration without nutritional anemia

Subacute combined degeneration without nutritional anemia

Cobalamin C defect: natural history, pathophysiology, and treatment

The Syndrome of Food-Cobalamin Malabsorption: A Personal View in a Perspective of Clinical Practice

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