N A Akar1, A D Adekile. 1. Department of Pediatrics, Mubarak Hospital, Kuwait.
Abstract
OBJECTIVE: To report a case of chromosome 22q11.2 deletion presenting with large platelets, platelet dysfunction, immune-mediated thrombocytopenia and neutropenia, in addition to other features of the disease. CASE PRESENTATION AND INTERVENTION: The patient presented in the neonatal period with tetralogy of Fallot, subtle dysmorphic features and thrombocytopenia. Fluorescent in situ hybridization analysis confirmed the diagnosis of chromosome 22q11.2 deletion. Further investigations showed immune thrombocytopenia and neutropenia in addition to reduced expression of platelet GPIb and abnormal platelet aggregation studies. CD4:CD8 ratio was reversed. His cardiac abnormality was successfully corrected surgically. He had mild recurrent bacterial infections. Recurrent epistaxis was becoming increasingly more severe, and he had cognitive developmental and speech delay. His serum calcium, phosphorus and parathormone have remained normal. CONCLUSIONS: Immune thrombocytopenia can coexist with macrothrombocytopenia and platelet dysfunction in chromosome 22q11.2 deletion and may present with significant bleeding episodes.
OBJECTIVE: To report a case of chromosome 22q11.2 deletion presenting with large platelets, platelet dysfunction, immune-mediated thrombocytopenia and neutropenia, in addition to other features of the disease. CASE PRESENTATION AND INTERVENTION: The patient presented in the neonatal period with tetralogy of Fallot, subtle dysmorphic features and thrombocytopenia. Fluorescent in situ hybridization analysis confirmed the diagnosis of chromosome 22q11.2 deletion. Further investigations showed immune thrombocytopenia and neutropenia in addition to reduced expression of platelet GPIb and abnormal platelet aggregation studies. CD4:CD8 ratio was reversed. His cardiac abnormality was successfully corrected surgically. He had mild recurrent bacterial infections. Recurrent epistaxis was becoming increasingly more severe, and he had cognitive developmental and speech delay. His serum calcium, phosphorus and parathormone have remained normal. CONCLUSIONS: Immune thrombocytopenia can coexist with macrothrombocytopenia and platelet dysfunction in chromosome 22q11.2 deletion and may present with significant bleeding episodes.
Authors: Jolan E Walter; Jocelyn R Farmer; Zsofia Foldvari; Troy R Torgerson; Megan A Cooper Journal: J Allergy Clin Immunol Pract Date: 2016 Nov - Dec
Authors: N M J Zwifelhofer; R S Bercovitz; L A Weik; A Moroi; S LaRose; P J Newman; D K Newman Journal: J Thromb Haemost Date: 2019-01-22 Impact factor: 5.824
Authors: Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Pedro Paulo Albino Dos Santos; Paulo Ricardo Gazzola Zen; Giorgio Adriano Paskulin Journal: Rev Bras Hematol Hemoter Date: 2011