Here’s an interesting blood smear unknown to test your knowledge. Take a look at the photo and the question, then scroll down for the answer.

Unknown12

 

A 6-month-old male infant presents with failure to thrive. His mother notes that he has loose, foul smelling stools. A representative field of his blood smear is shown here. What is the diagnosis?

A. Autoimmune hemolytic anemia
B. Sickle cell anemia
C. Abetalipoproteinemia
D. Microangiopathic hemolytic anemia
E.  Glucose-6-phosphate dehydrogenase deficiency

 

 

 

(Scroll down for the answer)

 

 

 

 

The diagnosis in this case is abetalipoproteinemia, a rare hereditary disorder in which patients lack apoliporoteins B-48 and B-100, resulting in a decreased ability to absorb dietary fat and fat-soluble vitamins.  Signs of the disorder appear in infancy, usually with failure to thrive and diarrhea. Acanthocytes (red cells with long, spiky projections) are usually seen in the blood, and are caused by an abnormal distribution of membrane lipids in the red blood cell. Later in life, the disease affects the nervous system, and patients may develop ataxia and decreased vision. Treatment involves dietary restriction of triglycerides and supplementation with large doses of fat-soluble vitamins, especially vitamin E.

If you liked this case, and want to test yourself with other unknown cases, here are some to try:

  • Case 1: 20-year-old male who died suddenly
  • Case 2: 72-year-old male with right calf mass
  • Case 3: 67-year-old female with pancytopenia
  • Case 4: 59-year-old male with severe headaches
  • Case 5: 38-year-old female with deep venous thrombi
  • Case 6: 13-year-old male with cerebellar mass
  • Case 7: 45-year-old male with pulmonary emphysema
  • Case 8: 38-year-old male with AIDS and headaches
  • Case 9: 25-year-old male with arm mass
  • Case 10: 57-year-old male with fatigue and left upper quadrant heaviness
  • Case 11: 62-year-old male with hepatosplenomegaly, skin lesions and cardiomyopathy