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Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia

  • Eun Ah Kim
  • Young Tae Lim
  • Jeong Ok Hah
  • Young Bae Sohn
  • Yu Kyung Kim
  • Joon Hyuk Choi
  • Sae Yoon Kim
  • Kyung Mi Jang
  • JiYoung Ahn
  • Jae Min LeeEmail author
Case Report

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.

Keywords

Gaucher disease Neuronopathic gaucher disease Anemia Enzyme replacement treatment 

Abbreviations

ERT

Enzyme replacement treatment

GD

Gaucher disease

Hb

Hemoglobin

HSCT

Hematopoietic stem-cell transplantation

SNP

Supranuclear gaze palsy

WBC

White blood count

Notes

Acknowledgements

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

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© The Japanese Society of Hematology 2018

Authors and Affiliations

  1. 1.Department of PediatricsYeungnam University College of MedicineDaeguRepublic of Korea
  2. 2.Department of PediatricsDaegu Fatima HospitalDaeguRepublic of Korea
  3. 3.Department of Medical GeneticsAjou University Hospital, Ajou University School of MedicineSuwonRepublic of Korea
  4. 4.Department of Clinical Pathology, School of MedicineKyungpook National UniversityDaeguRepublic of Korea
  5. 5.Department of PathologyYeungnam University College of MedicineDaeguRepublic of Korea

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