1.
Am J Hematol
; 97(11): 1495-1496, 2022 11.
Article
in English
| MEDLINE
| ID: mdl-35441393
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.