Wednesday, March 25, 2015

6-year-old boy has a history of corneal opacities and relapsing polyneuropathy

A 6-year-old boy has a history of corneal opacities and relapsing polyneuropathy. Physical examination reveals the presence of large, orange-colored tonsils. The patient’s serum cholesterol is low but his triglyceride level is normal.
Which of the following is the most likely diagnosis in this patient?
orange color tonsil in tangiers disease

Polyneuropathy in tangiers



a. Malnutrition
b. Malabsorption
c. Exudative pharyngitis
d. HIV infection
e. Myeloproliferative disorder
f. Tangier disease

The answer is f.Tangier disease is a rare inherited disorder of lipoprotein metabolism.

Patients present with a low serum cholesterol level, virtually no HDL cholesterol, a normal or elevated triglyceride level, orange-colored tonsils, corneal opacities, and a relapsing polyneuropathy. The disorder does not lead to premature atherosclerosis and treatment is not required.

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