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Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia
Thomas Cluzeau1, Abderrahim Oussalah2,3,4, Maël Silva Rodriguez2,3,4
1CHU Nice-Hôpital de l'Archet 1 Nice France.
A rare genetic disorder caused a functional vitamin B12 and folate deficiency, leading to pancytopenia and neurological issues. Prompt diagnosis and treatment with vitamin B12 led to rapid recovery.
Area of Science:
- Hematology
- Genetics
- Metabolic Disorders
Background:
- Pancytopenia and neurological symptoms can mimic myelodysplastic syndromes.
- Genetic factors can lead to functional vitamin deficiencies.
Purpose of the Study:
- To report a case of pancytopenia and neurological signs caused by a digenic defect.
- To highlight the importance of genetic and metabolic screening in atypical cytopenias.
Main Methods:
- Genetic analysis identified mutations in CUBN and MTHFR genes.
- Metabolic screening revealed elevated methylmalonic acid and homocysteine levels.
- Clinical assessment of pancytopenia and neurological signs.
Main Results:
- A digenic defect in CUBN and MTHFR was identified.
- Functional vitamin B12 and folate deficiency was confirmed.
- The patient experienced rapid remission of symptoms following parenteral vitamin B12 administration.
Conclusions:
- Digenic defects can cause complex hematological and neurological presentations.
- Metabolic and genetic evaluations are crucial for diagnosing atypical cytopenias.
- Early intervention with appropriate vitamin supplementation can lead to favorable outcomes.
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