From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia

• Main Authors: Samuel Sassine (Author), Amandine Remy (Author), Tanguy Demaret (Author), François Proulx (Author), Julie Autmizguine (Author), Fatima Kakkar (Author), Thai Hoa Tran (Author), Caroline Laverdière (Author), Ellery T. Cunan (Author), Catalina Maftei (Author), Grant Mitchell (Author), Hélène Decaluwe (Author), Jade Hindié (Author)
• Format: Book
• Published: MDPI AG, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 <i>Pneumocystis jirovecii</i> pneumonia led...