Friday, August 7, 2009


A 25 year old presents with tunnel vision and gait instability. She's had neurologic problems all her life; at age 5, she was diagnosed with a sensory motor neuropathy - hypesthesia, hypalgesia, loss of proprioception, and absent tendon reflexes. Since then she's had generalized muscle weakness with distal muscle atrophy. As a result, she has ataxia. A peripheral nerve biopsy revealed loss of large myelinated fibers. She says a grandmother of hers had retinitis pigmentosa. Review of systems is positive for steatorrhea. A blood smear is shown above.

Challenge: This is a tough one, but the smear suggests what disease?

Image is in the public domain.


Anonymous said...

the cells shown are acanthocytes. since the pt's sx began at a young age and she has steatorrhea, sounds like abetaliporpoteinemia. neuro sx prob due to decreased vit E absorption

Anonymous said...


Craig Chen said...

Yes! I was going for acanthocytes -> abetalipoproteinemia. MS gets many but not all of the signs/symptoms.

The smear shows acanthocytes or spur cells with 5-10 irregularly distributed thorn-like spicules with drumstick ends. The classic association is abetalipoproteinemia (here) but they can also be seen in severe liver disease, hepatorenal failure, anorexia nervosa, and chronic starvation. Abetalipoproteinemia or Bassen-Kornzweig syndrome is an autosomal recessive disease due to mutations in the gene encoding the microsomal trigclyeride transfer protein MTP resulting in defective intestinal absorption of lipids, low serum cholesterol, VLDL, and triglycerides, and absent serum beta lipoprotein.

Sources: UpToDate;