Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2
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Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. / Naami, Nibras; Borkhardt, Arndt; Yoshimi, Ayami; Grinstein, Lev; Escherich, Gabriele.
In: AM J HEMATOL, Vol. 97, No. 11, 11.2022, p. 1495-1496.Research output: SCORING: Contribution to journal › Editorial › Research
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TY - JOUR
T1 - Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2
AU - Naami, Nibras
AU - Borkhardt, Arndt
AU - Yoshimi, Ayami
AU - Grinstein, Lev
AU - Escherich, Gabriele
N1 - © 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.
PY - 2022/11
Y1 - 2022/11
N2 - 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.
AB - 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.
KW - Anemia, Macrocytic/diagnosis
KW - Bulbar Palsy, Progressive/etiology
KW - Female
KW - Hearing Loss, Sensorineural/genetics
KW - Humans
KW - Infant
KW - Riboflavin
U2 - 10.1002/ajh.26573
DO - 10.1002/ajh.26573
M3 - Editorial
C2 - 35441393
VL - 97
SP - 1495
EP - 1496
JO - AM J HEMATOL
JF - AM J HEMATOL
SN - 0361-8609
IS - 11
ER -