Bassen-Kornzweig syndrome

Alternative names:

abetalipoproteinemia

Symptoms:

• failure to thrive (grow) in infancy
• fatty stools that appear pale in color
• frothy stools
• abnormally foul-smelling stools
• protruding abdomen
• developmental delay
• ataxia (poor muscle coordination) that usually develops after age 10
• muscle weakness
• slurred speech
• curvature of spine

Signs and tests:

• CBC that shows abnormally shaped red blood cells (thorny appearance)
• cholesterol studies, including total cholesterol that shows low levels VLDL and LDL
• stool collection that shows elevated fat levels
• ophthalmology exam shows inflammation of the back of the eye (retinitis)