Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2.
Am J Hematol
; 97(11): 1495-1496, 2022 11.
Article
en En
| 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Parálisis Bulbar Progresiva
/
Pérdida Auditiva Sensorineural
/
Anemia Macrocítica
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Am J Hematol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Alemania