Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2
Beteiligte Einrichtungen
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.
Bibliografische Daten
Originalsprache | Englisch |
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ISSN | 0361-8609 |
DOIs | |
Status | Veröffentlicht - 11.2022 |
Anmerkungen des Dekanats
© 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.
PubMed | 35441393 |
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