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Priyanka Chauhan
Public Documents
2
Spondyloenchondrodysplasia with immune dysregulation: Report of a novel ACP-5 gene mi...
Gopinathan Mathiyazhagan
and 5 more
January 31, 2024
Spondyloenchondrodysplasia with immune dysregulation(SPENCDI) is a rare genetic disorder resulting from suboptimal Tartrate Resistant Acid Phosphatase (TRAP) activity which key regulates functioning of immune effector cells and osteoclasts. This leads to autoimmune cytopenias along with skeletal system and neurological manifestations. Refractory autoimmune haemolysis is frequently encountered and manifest at a younger age demanding attention of a paediatric haematologist. Here we report the typical evolution of multi-systemic symptoms in a 7 year old child and difficult to manage haemolysis with use of sirolimus for attaining clinical remission.
PRIMARY PEDIATRIC MYELOFIBROSIS WITH A NOVEL CALRETICULIN GENE MUTATION
Priyanka Chauhan
and 4 more
January 31, 2024
Primary myelofibrosis in childhood is a rare occurrence. We report a case of 12-year-old female who had a three year history of progressive abdominal distension with two months history of increasing pallor and associated symptoms. On evaluation she was found to have primary myelofibrosis with a novel frameshift deletion in the Calreticulin gene leading to premature truncation of the protein. Patient responded to hydroxyurea and low dose steroid therapy. Our case highlights the typical adult like presentation with a novel mutation in CALR gene, emphasizing the need to perform mutational analysis in pediatric myelofibrosis with no secondary etiology