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Background: The diagnosis of Tangier disease in childhood is based on 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. Laboratory studies disclosed moderate increase in serum alanine aminotransferase activity (ALAT 52 UI/l, N < 30). The diagnosis of Tangier disease was confirmed by studies of plasma cholesterol and apolipoprotein A. By 8 months of age, the patient had enlarged orange tonsils. Small cervical, axillary and inguinal lymphadenopathies were present. The tonsilar and adenoidal tissues were removed at 18 months of age because the patient suffered from chronic airway obstruction. Colonoscopic examination revealed tiny flat orange spots, 1 to 2 mm in diameter, scattered throughout the rectosigmoidal and colonic mucosa. Survey of the family led to the discovery of one sister, with asymptomatic apolipoprotein Al deficiency and a normal sister, while the parents were heterozygotes for Tangier disease., Conclusion: Enlarged liver associated with a moderate level in serum aminotransferase may be an early manifestation of Tangier disease in infants. Rectosigmoidal and colonic lesions may be convenient for biopsy when tonsillectomy is not indicated.