Ghosal Hematodiaphyseal Dysplasia: A Case Report

  • Marjan Shakiba Department of Pediatric Endocrinology and Metabolism, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran https://orcid.org/0000-0003-3884-5466
  • Shahin Shamsian Pediatric Congenital Hematologic Disorders Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran https://orcid.org/0000-0001-6897-5451
  • Hamid Malekzadeh Department of Pediatric Endocrinology and Metabolism, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran https://orcid.org/0000-0003-1309-0757
  • Mehrdad Yasaei Department of Pediatric Endocrinology and Metabolism, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran https://orcid.org/0000-0002-6820-5630
Keywords:
Ghosal syndrome; Anemia; Diaphyseal dysplasia

Abstract

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly.

References

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Published
2020-04-07
How to Cite
1.
Shakiba M, Shamsian S, Malekzadeh H, Yasaei M. Ghosal Hematodiaphyseal Dysplasia: A Case Report. Int J Hematol Oncol Stem Cell Res. 14(2):127-129.
Section
Case Report(s)