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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Cheng, Yuxuan Zhang, Aijun |
| Abstract | Background Methylmalonic acidaemia (MMA) is a genetic metabolic disorder caused by congenital defects that may result in multisystem damage. However, MMA complicated with acute myeloid leukemia (AML) is very rare. Case presentation Here, we report a case of MMA with AML in a boy aged 7 years and 6 months. The boy was screened for MMA after birth and received long-term treatment with dietary control, vitamin B12, and L-carnitine. He was readmitted at the age of 7 years and 6 months with systemic bleeding spots and was diagnosed with AML by bone marrow cytology. When the diagnosis was clear, the patient received chemotherapy in addition to maintenance treatment for MMA. His blood routine, liver and kidney function, blood biochemistry, blood glucose, blood lipids, lactic acid and blood ammonia were monitored continuously. Bone marrow cytology one month after starting chemotherapy showed complete remission. Sorafenib was also added during chemotherapy and was discontinued 1 year after completion of chemotherapy. At the end of chemotherapy, he chose venetoclax for consolidation, and to date, the patient's condition is stable, with sustained CR and no relapse. Conclusion MMA combined with AML is rare. The prevention of infection, comprehensive assessment of nutritional status, continuous monitoring of related indicators and overall situation should be prioritized and comprehensive and individualized treatment approaches are paramount. |
| Related Links | https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-024-05025-1.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712431 |
| DOI | 10.1186/s12887-024-05025-1 |
| Journal | BMC Pediatrics |
| Issue Number | 1 |
| Volume Number | 25 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2025-02-12 |
| Access Restriction | Open |
| Subject Keyword | Pediatrics Internal Medicine Methylmalonic acidaemia Acute myeloid leukemia Case report |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pediatrics, Perinatology and Child Health |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.4/2023 |
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