Case history
Case history #1
A 4-month-old child presents with faltering growth associated with persistent foul-smelling stools. A stool sample reveals steatorrhea. A blood test indicates absent low-density lipoprotein (LDL) cholesterol levels. Her parents are normocholesterolemic.
Case history #2
A gaunt 27-year-old woman presents with progressively worsening balance and movement, and deterioration of her vision. She reports habitually maintaining a low-fat diet to avoid diarrhea. Blood tests reveal absent LDL cholesterol levels, a prolonged partial thromboplastin time, and low blood tocopherol (vitamin E) levels.
Use of this content is subject to our disclaimer