Cobalamin (Cbl) C/D Deficiency: Clinical, Neurophysiological and Neuroradiologic Findings in 14 Cases

Biancheri, Roberta; Cerone, R.; Schiaffino, M. C.; Caruso, U.; Veneselli, Edvige; Perrone, M. V.; Rossi, Andrea; Gatti, Rosanna

doi:10.1055/s-2001-12217

Cited by 62 publications

(38 citation statements)

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“…12,13 On the basis of a number of case reports, brain atrophy is also a pathologic feature in infants with vitamin B 12 deficiency. [14][15][16] Advanced MR imaging-based modalities such as DTI and MR spectroscopy showed abnormalities in a variety of diffuse neurologic disorders, whereas conventional MR imaging findings appeared normal. We hypothesized that patients with clinical symptoms of SACD and biochemical evidence of vitamin B 12 deficiency will have an associated cognitive decline and microstructural alterations in brain WM on DTI, even when conventional MR imaging findings appear normal.…”

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confidence: 99%

DTI Correlates of Cognition in Conventional MRI of Normal-Appearing Brain in Patients with Clinical Features of Subacute Combined Degeneration and Biochemically Proven Vitamin B12 Deficiency

Gupta

Garg

et al. 2013

American Journal of Neuroradiology

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confidence: 99%

DTI Correlates of Cognition in Conventional MRI of Normal-Appearing Brain in Patients with Clinical Features of Subacute Combined Degeneration and Biochemically Proven Vitamin B12 Deficiency

Gupta

Garg

et al. 2013

American Journal of Neuroradiology

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“…Previous studies have demonstrated that there is a positive correlation between the degree of vitamin B 12 deficiency and abnormality of evoked brain potentials (4,6,18,19). Similarly, in this study, VEP and BAEP tests proved abnormal in 3 and 7 subjects who had serum vitamin B 12 levels of <100 pg/mL, respectively.…”

Section: Discussionmentioning

confidence: 53%

“…Abnormalities of VEP and BAEP developed secondarily to demyelination and axonopathy caused by vitamin B 12 deficiency. The persistence of VEP and BAEP abnormality in the deficiency of vitamin B 12 might be associated with delayed diagnosis of vitamin B 12 deficiency and advanced neurological view (4,6). In a study carried out by Biancheri et al (6), out of 14 cases with congenital cobalamin metabolism disorder, the BAEP results of 9 and the VEP results of 8 cases were determined to be abnormal.…”

Section: Discussionmentioning

confidence: 99%

“…The persistence of VEP and BAEP abnormality in the deficiency of vitamin B 12 might be associated with delayed diagnosis of vitamin B 12 deficiency and advanced neurological view (4,6). In a study carried out by Biancheri et al (6), out of 14 cases with congenital cobalamin metabolism disorder, the BAEP results of 9 and the VEP results of 8 cases were determined to be abnormal. It was observed that of the 6 patients with abnormal BAEP test results, 3 recovered completely 6 months after treatment and another 3 recovered completely 10 months after treatment.…”

Section: Discussionmentioning

confidence: 99%

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Visual and brainstem auditory evoked potentials in infants withsevere vitamin B12 deficiency

DEMİR¹,

Azhari²,

Abuhandan³

et al. 2015

Turk J Med Sci

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IntroductionVitamin B 12 is commonly found in foods of animal origin and is not synthesized in the human body. Vitamin B 12 , along with folic acid, participates in DNA synthesis and plays a role in nerve myelination, cell division, and proliferation. In babies exclusively fed with breast milk, the most common cause of vitamin B 12 deficiency is insufficient intake from vegetarian or vegan mothers who do not consume foods of animal origin (1). The severity of clinical symptoms is directly related to the severity of vitamin B 12 deficiency in the mother (2). The most common findings of vitamin B 12 deficiency are hematological and neurological signs. Several studies have reported that these neurological signs might be caused by demyelination, dysmyelination, and axonopathy (3). Abnormalities of visual evoked potentials (VEPs) and brainstem auditory evoked potentials (BAEPs) develop secondarily to demyelination and axonopathy caused by vitamin B 12 deficiency. The persistence of VEP and BAEP abnormality in the deficiency of vitamin B 12 might be associated with delayed diagnosis of vitamin B 12 deficiency and advanced neurological picture (3-6). The other findings are as follows: growth-developmental retardation, gastrointestinal motility disorders (diarrhea), hyperpigmentation, stomatitis, glossitis, irritability, weakness, lethargy, hypotonia, ataxia, hyporeflexia, tremor, convulsion, movement disorders, abnormal mental states, retardation in acquired motor skills, and coma (2,4,7-9).We could not find any controlled study in the literature about the effects of vitamin B 12 deficiency on the evoked brain potentials in infants. Thus, in this study we aimed to determine the effects of vitamin B 12 deficiency on VEP and BAEP in infants, and to investigate the results of treatment. Materials and methods Patient selectionA total of 30 infants aged 6-24 months with retardation of mental, motor, cognitive, and social functions and diagnosed with moderate or severe vitamin B 12 deficiency Background/aim: Vitamin B 12 plays an important role in the development of mental, motor, cognitive, and social functions via its role in DNA synthesis and nerve myelination. Its deficiency in infants might cause neuromotor retardation as well as megaloblastic anemia. The objective of this study was to investigate the effects of infantile vitamin B 12 deficiency on evoked brain potentials and determine whether improvement could be obtained with vitamin B 12 replacement at appropriate dosages.Materials and methods: Thirty patients with vitamin B 12 deficiency and 30 age-matched healthy controls were included in the study. Hematological parameters, visual evoked potentials, and brainstem auditory evoked potentials tests were performed prior to treatment, 1 week after treatment, and 3 months after treatment.Results: Visual evoked potentials (VEPs) and brainstem auditory evoked potentials (BAEPs) were found to be prolonged in 16 (53.3%) and 15 (50%) patients, respectively. Statistically significant improvements in VEP and BAEP examinations w...

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“…However, vitamin B 12 deficiency is thought to cause imbalance between the growth factors influencing the central nervous system and neurotoxic cytokines, and increased lactate, glutamate and excitatory amino acids (26)(27)(28). There- (29)(30)(31)(32)(33)(34). We encountered central nervous system signs and symptoms especially in rapidly growing infants in the early period between 2 and 18 months.…”

Section: Discussionmentioning

confidence: 94%

How Does B12 Deficiency of Mothers Affect Their Infants?

et al. 2017

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Background: Vitamin B12 cannot be synthesized in the body and it is essential for growth and development in humans. Objectives: To evaluate the vitamin B12 levels between the mothers and their infants who presented to the Pediatric Hematology outpatients department due to the symptoms of vitamin B12 deficiency. We also compared the effects of low B12 levels in both the mother and the child, compared to the effects of normal B12 levels in the mother and low levels in the child. Methods: We enrolled 303 children aged 2 -18 months between January 2013 and September 2015. Patients with a vitamin B12 level < 200 pg/mL in both the mother and the child and patients with a B12 level that was low in the child and normal in the mother were compared. Results: The birth weight of the children was low in the group where the B12 level of both the mother and the child (n = 163) was low and presentation to the clinic with neurologic signs and symptoms such as tremor, restlessness, seizure, hypotonia, and macrocephaly not related to another etiologic reason was common (P < 0.05). A remarkable finding was the simultaneous low levels of vitamin B12 in the mother in 55 of the 69 children who presented with neurological symptoms (P < 0.05). A generalized or focal epileptic pathology was found in the EEGs and MR images including retardation in myelination, demyelination, atrophic findings or ventricular dilatation in children whose mothers have B12 deficiency simultaneously. Conclusions: It is difficult to explain such complicated clinical pictures due to malnutrition especially in developing countries. Detecting and treating vitamin B12 deficiency early in mother and child is very important in prevention of potential irreversible neurological problems.

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Cobalamin (Cbl) C/D Deficiency: Clinical, Neurophysiological and Neuroradiologic Findings in 14 Cases

Cited by 62 publications

References 17 publications

DTI Correlates of Cognition in Conventional MRI of Normal-Appearing Brain in Patients with Clinical Features of Subacute Combined Degeneration and Biochemically Proven Vitamin B12 Deficiency

DTI Correlates of Cognition in Conventional MRI of Normal-Appearing Brain in Patients with Clinical Features of Subacute Combined Degeneration and Biochemically Proven Vitamin B12 Deficiency

Visual and brainstem auditory evoked potentials in infants withsevere vitamin B12 deficiency

How Does B12 Deficiency of Mothers Affect Their Infants?

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