| Autor: |
Samuel Sassine, Amandine Remy, Tanguy Demaret, François Proulx, Julie Autmizguine, Fatima Kakkar, Thai Hoa Tran, Caroline Laverdière, Ellery T. Cunan, Catalina Maftei, Grant Mitchell, Hélène Decaluwe, Jade Hindié |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Children, Vol 11, Iss 8, p 990 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2227-9067 |
| DOI: |
10.3390/children11080990 |
| Popis: |
A 2.5-month-old girl admitted for failure to thrive and severe pancytopenia was diagnosed with methylmalonic acidemia (MMA) secondary to transcobalamin II deficiency, an inborn error of vitamin B12 metabolism. Opportunistic Cytomegalovirus and Pneumocystis jirovecii pneumonia led to severe acute respiratory distress syndrome (ARDS) and immune reconstitution inflammatory syndrome (IRIS) after treatment initiation with vitamin B12 supplementation. In children with interstitial pneumonia-related ARDS, normal lymphocyte count should not delay invasive procedures required to document opportunistic infections. MMA can be associated with underlying lymphocyte dysfunction and vitamin B12 supplementation can fully reverse the associated immunodeficiency. IRIS may appear in highly treatment-responsive forms of pancytopenia in children and prompt treatment of dysregulated inflammation with high-dose corticosteroids should be initiated. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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