Effectiveness of B12 in IGSSevere pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.
Relevance: Rare disorder management
We explored the case of a 23-month-old boy suffering from severe pancytopenia linked to Imerslund-Gräsbeck syndrome, a rare condition caused by an inability to absorb vitamin B12. Upon diagnosis, the boy received vitamin B12 replacement therapy, which effectively addressed his symptoms and improved his health.
This case highlights the significance of early detection and treatment of IGS to avoid potential neurological damage. It's crucial to recognize this condition, even when neurological symptoms are absent, to provide timely care.
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We focused on how oral vitamin B12 could help those with pernicious anemia, where absorption is usually impaired. Participants diagnosed with vitamin B12 deficiency due to this condition took a daily dose of 1000 μg of oral cyanocobalamin.
Over a year, an impressive 88.5% of them no longer showed deficiency after just one month, with significant improvements in vitamin B12 levels and related biological markers. Importantly, these benefits lasted throughout the study period.
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Vitamin B12 aids anemia recoveryCo-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review.
Moderate relevance of vitamin B12
We investigated how vitamin B12 treatment plays a role in addressing anemia in a young adolescent with complex health issues, including severe anemia, joint problems, and neurological symptoms. This individual presented with a deficiency in vitamin B12, alongside other autoimmune conditions, leading to a diagnosis of subacute combined degeneration of the spinal cord.
The patient's treatment regimen included high-dose intravenous methylprednisolone, immunoglobulin therapy, oral naproxen, and vitamin B12 supplementation, among others. We observed that the introduction of vitamin B12 into her treatment plan contributed to combating her anemia effectively. The combination of therapies, especially with vitamin B12, significantly improved her overall health and restored her quality of life.
Our findings highlight the importance of early diagnosis and prompt treatment in patients with complex autoimmune issues. Specifically, vitamin B12 emerges as a critical component in managing anemia related to such conditions. While the study is anecdotal, it reinforces the idea that vitamin B12 can be beneficial in improving anemia outcomes in similarly affected patients.
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Oral B12 therapy effective in anemiaImerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.
Highly relevant to genetic disorders
We explored a case of a 3-year-old girl diagnosed with Imerslund-Gräsbeck syndrome, a condition that causes vitamin B12 malabsorption and leads to anemia. After identifying novel mutations in the AMN gene, we initiated long-term oral vitamin B12 therapy.
Following treatment, her blood tests showed consistent improvement, indicating that oral B12 replacement can be an effective management strategy, especially for patients who can’t tolerate injections. This case underscores the importance of genetic testing for accurate diagnoses.
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We explored a rare condition called Transcobalamin deficiency, which hinders vitamin B12 transport in the body. This case involved a 2-year-old boy suffering from severe anemia and frequent infections.
After genetic tests revealed a specific mutation, we administered high doses of methylcobalamin. Remarkably, the child's health significantly improved, highlighting the importance of diagnosing and treating this deficiency early to avoid serious complications.
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