EARLY MANIFESTATIONS OF TANGIER DISEASE

Background. - The diagnosis of Tangier disease in childhood is based o n the specific aspect of tonsils or by screening relatives of affected subjects. Case report. - A moderately enlarged liver associated with splenomegaly was found upon routine physical examination of a 3 month- old breast-fed boy, born in Turkey from consanguineous parents. Labora tory studies disclosed moderate increase in serum alanine aminotransfe rase activity (ALAT 52 UI/l, N < 30). The diagnosis of Tangier disease was confirmed by studies of plasma cholesteral and apolipoprotein A. By 8 months of age, the patient had enlarged orange tonsils. Small cer vical, axillary and inguinal lymphadenopathies were present. The tonsi lar and adenoidal tissues were removed at 18 months of age because the patient suffered from chronic airway obstruction. Colonoscopic examin ation revealed tiny flat orange spots, 1 to 2 mm in diameter, scattere d throughout the rectosigmoidal and colonic mucosa. Survey of the fami ly led to the discovery of one sister, with asymptomatic apolipoprotei n A1 deficiency and a normal sister, while the parents were heterozygo tes for Tangier disease. Conclusion. - Enlarged liver associated with a moderate level in serum aminotransferase may be an early manifestati on of Tangier disease in infants. Rectosigmoidal and colonic lesions m ay be convenient for biopsy when tonsillectomy is not indicated.