Ghosal Hematodiaphyseal Dysplasia: A Case Report

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. T...

Descripción completa

Detalles Bibliográficos
Autores principales: Shakiba, Marjan, Shamsian, Shahin, Malekzadeh, Hamid, Yasaei, Mehrdad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences, Hematology-Oncology and Stem Cell Transplantation Research Center 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231795/
https://www.ncbi.nlm.nih.gov/pubmed/32461797
Descripción
Sumario: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.

Ejemplares similares