Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

One patient with a chromosome 22q11.2 deletion and Evans syndrome is reported in this paper. Microdeletions of 22q11.2 are the main etiology for DiGeorge syndrome, a disorder characterized by heart defects, immune deficiencies due to aplasia or hypoplasia of the thymus, and hypocalcemia. Evans syndrome refers to a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. A wide range of autoimmune disorders have been described in DiGeorge syndrome and velocardiofacial syndrome, including one prior report of autoimmune hemolytic anemia and immune thrombocytopenia. The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome.     

COEXISTENCE OF DIGEORGE SYNDROME AND TANGIER DISEASE IN A ONE-YEAR-OLD INFANT. CASE REPORT AND REVIEW OF THE LITERATURE

Tangier Disease (TD), a rare autosomal disorder, is characterized by low plasma cholesterol, decreased or absent A-I apolipoprotein and normal or elevated plasma triglycerides. TD was diagnosed antemortem by serologic and electrophoretic studies. Careful examination of the organs at autopsy showed the presence of lipid-laden macrophages, the hallmark of TD, only in the rectosigmoid mucosa, and not in other organs usually affected in TD. These findings indicate that the widespread distribution of lipid deposits may be absent in patients with TD early in life. In addition, DiGeorge syndrome (DGS) was recognized at autopsy by absence of the thymus and presence of only one parathyroid, thus explaining the multiple opportunistic infections during life.