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Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia

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A Correction to this article was published on 10 January 2019

This article has been updated

Abstract

Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplementation for 3 months. White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively. The patient had microcytic hypochromic anemia with mildly elevated ferritin. Physical examination revealed hepatosplenomegaly. Bone-marrow aspiration showed sheets of Gaucher cells. Glucocerebrosidase activity in monocytes was significantly lower than normal. Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD. Enzyme replacement treatment (ERT) consisting of imiglucerase was initiated and was effective; WBC, Hb, and platelet count gradually normalized and the hepatosplenomegaly improved. However, when the patient entered elementary school, he showed mild impaired cognitive function, and supranuclear gaze palsy occurred the same year. He was ultimately diagnosed with type 3 GD and continued ERT. Pediatric hemato-oncologists should be aware of GD, especially when patients exhibit anemia refractory to iron therapy, radiologic bone deformity, neurologic signs or symptoms, and growth retardation.

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Change history

  • 10 January 2019

    In the original publication of this article, Fig. 2 was published incorrectly.

Abbreviations

ERT:

Enzyme replacement treatment

GD:

Gaucher disease

Hb:

Hemoglobin

HSCT:

Hematopoietic stem-cell transplantation

SNP:

Supranuclear gaze palsy

WBC:

White blood count

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Acknowledgements

This work was supported by the 2015 Yeungnam University Research Grant.

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Authors and Affiliations

  1. Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Republic of Korea

    Eun Ah Kim, Young Tae Lim, Sae Yoon Kim, Kyung Mi Jang, JiYoung Ahn & Jae Min Lee

  2. Department of Pediatrics, Daegu Fatima Hospital, Daegu, Republic of Korea

    Jeong Ok Hah

  3. Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea

    Young Bae Sohn

  4. Department of Clinical Pathology, School of Medicine, Kyungpook National University, Daegu, Republic of Korea

    Yu Kyung Kim

  5. Department of Pathology, Yeungnam University College of Medicine, Daegu, Republic of Korea

    Joon Hyuk Choi

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  1. Eun Ah Kim
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Correspondence to Jae Min Lee.

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Kim, E.A., Lim, Y.T., Hah, J.O. et al. Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. Int J Hematol 109, 361–365 (2019). https://doi.org/10.1007/s12185-018-2559-3

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  • DOI: https://doi.org/10.1007/s12185-018-2559-3

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