Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2.

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.

• Authors: Nibras Naami, Arndt Borkhardt, Ayami Yoshimi, Lev Grinstein, Gabriele Escherich
• Journal: American journal of hematology (Am J Hematol) Vol. 97 Issue 11 Pg. 1495-1496 (11 2022) ISSN: 1096-8652 [Electronic] United States
• PMID: 35441393 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.

Chemical References

• Riboflavin

Topics

• Anemia, Macrocytic (diagnosis, genetics)
• Bulbar Palsy, Progressive (etiology, genetics)
• Female
• Hearing Loss, Sensorineural (genetics)
• Humans
• Infant
• Riboflavin