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 pl asma cholesterol, decreased or absent A-I apolipoprotein and normal ol elev ated plasma triglycerides. ID was diagnosed antemortem by serologic and ele ctrophoretic studies. Careful examination of the organs at autopsy showed t he presence of lipid-laden macrophages, the hallmark of TD, only in the rec tosigmoid mucosa, and not in other organs usually affected in ID. These fin dings indicate that the widespread distribution of lipid deposits may be ab sent in patients with ID early in life. In addition, DiGeorge syndrome (DGS ) was recognised at autopsy by absence of the thymus and presence of only o ne parathyroid, thus explaining the multiple opportunistic infections durin g life.