Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment

Pavone, Piero; Sullo, Federica; Falsaperla, Raffaele; Greco, Filippo; Crespo, Agustina; Calvo, Agustín; Caraballo, Roberto

doi:10.1055/s-0041-1725013

Cited by 11 publications

(5 citation statements)

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“…Furthermore, 25 innate metabolic errors resulting from single mutated genes cause heterogeneous conditions and may contribute to the etiology of IS [ 28 ]. Vitamin B12 deficiency results in severe neurological symptoms such as seizures and spasms, which gradually improve with vitamin B12 supplementation [ 29 ]. In this study, metabolic abnormalities were identified as a risk factor for non-etiology-specific IS.…”

Section: Discussionmentioning

confidence: 99%

Infantile epileptic spasms syndrome: a cohort study of 88 children

Ren,

Zhang,

et al. 2023

Ital J Pediatr

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Background This study aimed to investigate and analyze the risk factors for non-etiology-specific infantile spasms (IS) and unrelieved clinical symptoms after treatment. Methods Eighty-eight children with IS who were treated at our hospital from March 2018 to December 2021 were included in the study. The children were divided into etiology-specific (n = 46) and nonetiology-specific (n = 42) groups, based on the diagnostic results, and remission (n = 45) and nonremission (n = 43) groups, based on clinical outcomes after treatment. The clinical data from patients in the etiology-specific and nonetiology-specific groups and the remission and nonremission groups were compared. Risk factors for non-etiology-specific IS were identified using logistic regression analysis. Results Gender, family history, birth status, and metabolic abnormalities were significantly different between the etiology-specific and non-etiology-specific groups. Gender and metabolic abnormalities were risk factors for nonetiology-specific IS. Family history, birth status, metabolic abnormalities, and brain magnetic resonance imaging were significantly different between the remission and nonremission groups, and different etiologies were risk factors for unrelieved symptoms after treatment. Conclusion The occurrence of nonetiology-specific IS is associated with gender and metabolic abnormalities in children. After medication, unrelieved IS symptoms are associated with etiologies.

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Section: Discussionmentioning

confidence: 99%

Infantile epileptic spasms syndrome: a cohort study of 88 children

Ren,

Zhang,

et al. 2023

Ital J Pediatr

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“…As in our case, the most common symptoms include hypotonia and brisk reflexes, irritability or lethargy, and developmental delay and even regression. Epileptic seizures and movement disorders have been described [ 2 , 3 , 4 , 5 , 11 , 12 ]. However, as the neurological symptoms are nonspecific, the first-line diagnostic work-up usually also includes a brain MRI.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Brain Imaging Findings in a Child with Vitamin B12 Deficiency

et al. 2021

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Vitamin B12 (Vit-B12) deficiency is a rare and treatable cause of failure to thrive and delayed development in infants who are exclusively breastfed. Apart from genetic causes, it can be related to a malabsorption syndrome or when the mother follows a strict vegetarian or vegan diet, causing a low hepatic storage of Vit-B12 in the infant at birth. As the neurological symptoms are nonspecific, a brain magnetic resonance imaging (MRI) exam is usually performed to rule out primary causes of neurodevelopmental delay. Findings related to brain atrophy are usually observed. A favorable response is achieved with Vit-B12 therapy, and neurological symptoms dramatically improve within a few days after the treatment. We present the case of an infant with severe Vit-B12 deficiency, exclusively breastfed by his young vegan mother, and whose clinical symptoms together with MRI findings improved after treatment. Brain atrophy recovery after Vit-B12 therapy has been seldom documented.

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“…In case of vitamin B12 deficiency, it may have permanent effects on neuronal (West syndrome, peripheral neuropathy, etc. ), hematological and cognitive levels, which may be irreversible due to the deterioration in these developmental processes [1,2]. Vitamin B12 deficiency in adolescents leads to several disorders including mood and behaviour changes, neurological and hematological disorders and decrease in cognitive functions [1].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of thiol disulfide balance in adolescents with vitamin B12 deficiency

Demirtas

Erdal

2023

Ital J Pediatr

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Background Vitamin B12 is an important vitamin for metabolism and affects many mechanisms in the body including neuronal migration, DNA synthesis, neurotransmitter synthesis, brain and cognitive development. Increased oxidative stress in the body leads to the damage of the child development, but also plays a crucial role in the pathogenesis of many diseases encountered in the childhood period. Our aim is to investigate whether or not B12 deficiency is associated with dynamic thiol/disulfide homeostasis in adolescent patients. Methods This is a case-controlled observational study consisting of 45 adolescent patients with vitamin b12 deficiency and a control group consisting of 45 healthy adolescent. Patients between 11 and 18 ages who applied to the outpatient clinic for the first time with one of the complaints of headache were selected due to their decreased school performance, dizziness, and fatigue. Hemogram, vitamin B12, homocysteine levels and oxidative stress parameters such as native and total thiol disulfide levels and ratios of disulfide/native thiol, disulfide/total thiol, and native thiol/total thiol were measured from the patients. Results Vitamin B12 level was found to be significantly lower in vitamin B12 deficiency group (p < 0.001). The serum disulfide level was found to be 27.5 ± 8.38 in the case group and 20.5 ± 8.36 in the control group (p < 0.001). In the multiple linear regression analysis, it was determined that the independent variables of native thiol, homocysteine and disulfide levels effected of vitamin B12 levels (p < 0.001, p < 0.001, p < 0.005 respectively; R2 = 0.62). Conclusion The results obtained in terms of the effect of vitamin B12 deficiency on oxidative stress in adolescents are remarkable. The increase in oxidative stress parameters in the patient group may also suggest that oxidative stress plays a vital role in vitamin B12 deficiency in adolescence.

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Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment

Cited by 11 publications

References 15 publications

Infantile epileptic spasms syndrome: a cohort study of 88 children

Infantile epileptic spasms syndrome: a cohort study of 88 children

Clinical and Brain Imaging Findings in a Child with Vitamin B12 Deficiency

Evaluation of thiol disulfide balance in adolescents with vitamin B12 deficiency

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