Effectiveness of B12 in IGSSevere pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.
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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Oral B12 significantly improves anemiaOral vitamin B12 supplementation in pernicious anemia: a prospective cohort study.
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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Oral B12 therapy effective in anemiaImerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.
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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B12 treatment improves anemia outcomesTranscobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.
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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Pernicious anemia linked to B12A long-standing undiagnosed case of vitamin B12 deficiency: a case report.
This case explores the journey of a 40-year-old woman who suffered from various nonspecific symptoms, mistakenly attributed to other health issues, for ten years. Her vitamin B12 levels were critically low, ultimately diagnosed as pernicious anemia.
After starting parenteral B12 treatment, we observed significant neurological improvements, underscoring how vital it is to recognize vitamin B12 deficiency as a potential cause of anemia, even when classic symptoms aren't present. This case reminds us to maintain a broad perspective for accurate diagnosis.
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