Coexistence of Digeorge Syndrome and Tangier Disease in a One-Year-Old Infant. Case Report and Review of the Literature

Abstract

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.

Key Words:

• Tangier disease
• colon
• lipid laden macrophages
• apolipoprotein A-1
• DiGeorge syndrome