Vitamin B12 deficiency: Cognitive impairment and neuroimaging correlates

Tu, Min Chien; Lo, Chung Ping; Chen, Ching Yuan

doi:10.4172/neuropsychiatry.1000153

Cited by 1 publication

(1 citation statement)

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“…While several studies have investigated the neurological implications of vitamin B12 deficiency focusing on the role of biomarkers like homocysteine and methylmalonic acid [10][11][12], neuroimaging studies describing brain circuits´alterations in vitamin B12-deficient patients are limited [13]. To the best of our knowledge, such studies have not been carried out in patients with inborn errors of cbl metabolism.…”

Section: Introductionmentioning

confidence: 99%

Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder

Heras

Diez

Jiménez-Marín

et al. 2020

JCM

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Neuroimaging studies describing brain circuits’ alterations in cobalamin (vitamin B12)-deficient patients are limited and have not been carried out in patients with inborn errors of cobalamin metabolism. The objective of this study was to assess brain functionality and brain circuit alterations in a patient with an ultra-rare inborn error of cobalamin metabolism, methylmalonic aciduria, and homocystinuria due to cobalamin D disease, as compared with his twin sister as a healthy control (HC). We acquired magnetic resonance imaging (including structural, functional, and diffusion images) to calculate brain circuit abnormalities and combined these results with the scores after a comprehensive neuropsychological evaluation. As compared with HC, the patient had severe patterns of damage, such as a 254% increment of ventricular volume, pronounced subcortical and cortical atrophies (mainly at striatum, cingulate cortex, and precuneus), and connectivity alterations at fronto-striato-thalamic circuit, cerebellum, and corpus callosum. In agreement with brain circuit alterations, cognitive deficits existed in attention, executive function, inhibitory control, and mental flexibility. This is the first study that provides the clinical, genetic, neuroanatomical, neuropsychological, and psychosocial characterization of a patient with the cobalamin D disorder, showing functional alterations in central nervous system motor tracts, thalamus, cerebellum, and basal ganglia, that, as far as we know, have not been reported yet in vitamin B12-related disorders.

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