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West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mot...

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Autores principales: Chong, Pin Fee, Matsukura, Masaru, Fukui, Kaoru, Watanabe, Yoriko, Matsumoto, Naomichi, Kira, Ryutaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951394/
https://www.ncbi.nlm.nih.gov/pubmed/31956646
http://dx.doi.org/10.3389/fped.2019.00531
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author Chong, Pin Fee
Matsukura, Masaru
Fukui, Kaoru
Watanabe, Yoriko
Matsumoto, Naomichi
Kira, Ryutaro
author_facet Chong, Pin Fee
Matsukura, Masaru
Fukui, Kaoru
Watanabe, Yoriko
Matsumoto, Naomichi
Kira, Ryutaro
author_sort Chong, Pin Fee
collection PubMed
description Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mothers are particularly at risk. We report the case of a 7-month-old boy with West syndrome born to a mother with subclinical vitamin B12 deficiency due to autoantibodies. Electroencephalography revealed the characteristic hypsarrhythmia pattern, whereas cranial magnetic resonance imaging revealed cerebral atrophy and hypomyelination. Biochemical analysis revealed elevated urinary methylmalonic acid and homocysteine and reduced plasma methionine. Serum vitamin B12 levels were extremely low in both the child and his mother. The mother tested positive for both anti-intrinsic factor and anti-parietal cell antibodies. Low-dose adrenocorticotropic hormone was effective for seizure control. Contrary to previous reports, age-appropriate neurodevelopment was not achieved despite rapid normalization of metabolic profile with vitamin B12 supplementation. Further investigations failed to detect any causative mutations in the genes associated with developmental and epileptic encephalopathy as well as metabolic and other identifiable disorders known to cause West syndrome. To the best of our knowledge, this is the first reported case in which maternal anti-intrinsic factor antibody was considered to be the reason for infantile vitamin B12 deficiency with West syndrome. Differential diagnosis of West syndrome should include vitamin B12 deficiency due to its treatable nature, and early diagnosis is essential to prevent permanent neurological consequences.
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spelling pubmed-69513942020-01-17 West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother Chong, Pin Fee Matsukura, Masaru Fukui, Kaoru Watanabe, Yoriko Matsumoto, Naomichi Kira, Ryutaro Front Pediatr Pediatrics Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mothers are particularly at risk. We report the case of a 7-month-old boy with West syndrome born to a mother with subclinical vitamin B12 deficiency due to autoantibodies. Electroencephalography revealed the characteristic hypsarrhythmia pattern, whereas cranial magnetic resonance imaging revealed cerebral atrophy and hypomyelination. Biochemical analysis revealed elevated urinary methylmalonic acid and homocysteine and reduced plasma methionine. Serum vitamin B12 levels were extremely low in both the child and his mother. The mother tested positive for both anti-intrinsic factor and anti-parietal cell antibodies. Low-dose adrenocorticotropic hormone was effective for seizure control. Contrary to previous reports, age-appropriate neurodevelopment was not achieved despite rapid normalization of metabolic profile with vitamin B12 supplementation. Further investigations failed to detect any causative mutations in the genes associated with developmental and epileptic encephalopathy as well as metabolic and other identifiable disorders known to cause West syndrome. To the best of our knowledge, this is the first reported case in which maternal anti-intrinsic factor antibody was considered to be the reason for infantile vitamin B12 deficiency with West syndrome. Differential diagnosis of West syndrome should include vitamin B12 deficiency due to its treatable nature, and early diagnosis is essential to prevent permanent neurological consequences. Frontiers Media S.A. 2019-12-20 /pmc/articles/PMC6951394/ /pubmed/31956646 http://dx.doi.org/10.3389/fped.2019.00531 Text en Copyright © 2019 Chong, Matsukura, Fukui, Watanabe, Matsumoto and Kira. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Chong, Pin Fee
Matsukura, Masaru
Fukui, Kaoru
Watanabe, Yoriko
Matsumoto, Naomichi
Kira, Ryutaro
West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title_full West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title_fullStr West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title_full_unstemmed West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title_short West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
title_sort west syndrome in an infant with vitamin b12 deficiency born to autoantibodies positive mother
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951394/
https://www.ncbi.nlm.nih.gov/pubmed/31956646
http://dx.doi.org/10.3389/fped.2019.00531
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