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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, Jahrgang 97, Nr. 11, 11.2022, S. 1495-1496.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Editorial › Forschung

Harvard

Naami, N, Borkhardt, A, Yoshimi, A, Grinstein, L & Escherich, G 2022, 'Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2', AM J HEMATOL, Jg. 97, Nr. 11, S. 1495-1496. https://doi.org/10.1002/ajh.26573

APA

Naami, N., Borkhardt, A., Yoshimi, A., Grinstein, L., & Escherich, G. (2022). Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. AM J HEMATOL, 97(11), 1495-1496. https://doi.org/10.1002/ajh.26573

Vancouver

Naami N, Borkhardt A, Yoshimi A, Grinstein L, Escherich G. Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. AM J HEMATOL. 2022 Nov;97(11):1495-1496. https://doi.org/10.1002/ajh.26573

Bibtex

@article{2bf92fce0fef4641af01f3355f7732bd,
title = "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.",
keywords = "Anemia, Macrocytic/diagnosis, Bulbar Palsy, Progressive/etiology, Female, Hearing Loss, Sensorineural/genetics, Humans, Infant, Riboflavin",
author = "Nibras Naami and Arndt Borkhardt and Ayami Yoshimi and Lev Grinstein and Gabriele Escherich",
note = "{\textcopyright} 2022 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.",
year = "2022",
month = nov,
doi = "10.1002/ajh.26573",
language = "English",
volume = "97",
pages = "1495--1496",
journal = "AM J HEMATOL",
issn = "0361-8609",
publisher = "Wiley-Liss Inc.",
number = "11",

}

RIS

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 -