Shakiba Marjan, Shamsian Shahin, Malekzadeh Hamid, Yasaei Mehrdad
Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Pediatric Congenital Hematologic Disorders Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Int J Hematol Oncol Stem Cell Res. 2020 Apr 1;14(2):127-129.
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.
戈萨尔血骨干发育异常（GHDD）是一种罕见的常染色体隐性疾病，表现为类固醇反应性贫血和长骨干发育异常。我们报告了一名3岁伊朗女孩，患有难治性贫血、脾肿大以及长骨干骺端发育异常的影像学表现。通过临床表现和X线骨检查确诊。该患者接受了口服泼尼松龙治疗，贫血和脾肿大有显著改善。
