Thirteen‐month‐old girl with hyporegenerative macrocytic anemia due to Brown–Vialetto–Van Laere syndrome 2. Issue 11 (6th May 2022)

• Record Type: Journal Article
• Authors: Naami, Nibras; Borkhardt, Arndt; Yoshimi, Ayami; Grinstein, Lev; Escherich, Gabriele
• Is Part Of: American journal of hematology. Volume 97:Issue 11(2022)
• Page Start: 1495
• Page End: 1496
• Publication Date: 2022-05-06
• Subjects: Hematology -- Periodicals; 616.15
• DOI: 10.1002/ajh.26573
• Languages: English
• ISSNs: 0361-8609

Abstract

Abstract : We diagnosed a 13‐month‐old girl with severe neurological deficits and hyporegenerative macrocytic anemiawith Brown–Vialetto–Van Laere syndrome type 2 (BVVL 2), a rare disorder of the riboflavin transporter, caused by variants in the SLC52A2 gene. Bone marrow aspiration revealed hypoplastic erythropoiesis and vacuolization of myelocytes, proerythroblasts, and micromegakaryocytes. We suggest BVVL 2 as an important differential diagnosis in hyporegenerative macrocytic anemia as rapid diagnosis and initiation of therapy are crucial for the remedy of hematological and neurological impairment.