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March 2002

Pathological Case of the Month

Arch Pediatr Adolesc Med. 2002;156(3):292. doi:

Diagnosis and Discussion: Celiac Disease with Acanthocytosis

Figure 1. Acanthocytosis is seen on the blood smear.

Biochemical tests of plasma for renal and liver functions were considered normal. Results of microscopic examination of feces was normal except for increased lipid content, and microbiologic test results were also negative. Antibody titers against toxoplasmosis, cytomegalovirus, herpes simplex virus types 1 and 2, and rubella were not suggestive. Serum lipids were found as follows: total cholesterol, 57 mg/dL (1.47 mmol/L); high-density lipoprotein, 31.3 mg/dL; low-density lipoprotein, 7.3 mg/dL; and very low-density lipoprotein, 18.4 mg/dL. Lipoprotein electrophoresis was found in normal limits; consequently, abetalipoproteinemia was not considered. Other disorders that cause malabsorption and failure to thrive, such as cystic fibrosis, were ruled out. Blood and urine amino acid concentrations were normal. Antigliadin immunoglobulin (Ig) A and IgG antibody titers were 58.4 (normal, 0-22) U/mL and 50.5 (normal, 0-27) U/mL, respectively. Endomysium IgA antibody was positive, which was highly suggestive for celiac disease (CD).

He began receiving a gluten-free diet and subsequently significant improvement of his clinical situation was observed. He gained weight dramatically and diarrhea ceased. Two weeks later, acanthocytosis was not seen on his blood smear.

Celiac disease, also called gluten-sensitive enteropathy, is a permanent intestinal intolerance to dietary wheat gliadin and related proteins that produces lesions in genetically susceptible individuals.1 Clinical features differ depending on the age of onset. In children, the onset of the disease is within the first through third years of life after exposure to gluten, and they exhibit a classic syndrome of chronic diarrhea, failure to thrive, and abdominal distention.2 Different neurologic metabolic symptoms, such as epilepsy with cerebral calcification, ataxia, and intellectual deterioration, can occasionally accompany CD.2 Alopecia is another extraordinary finding that has been reported in children with CD.3 Acanthocytes are dense, contracted red blood cells with several irregularly spaced thorny projections on the surface.4 Acanthocytosis is seen in different kinds of disorders. Although the exact mechanism of formation of acanthocytes is not clear, reversal of the usual phosphatidylcholine-sphingomyelin ratio is considered to be a possible mechanism in certain diseases, such as abetalipoproteinemia.4

To the best of our knowledge, this is the first report of the coexistence of acanthocytosis and CD in children. We do not think that this finding indicates an association because the acanthocytosis was reversed after prompt treatment. We suggest that CD, which is a more common cause of malabsorption in children than abetalipoproteinemia, should be considered when acanthocytosis is seen on a peripheral blood smear.

Accepted for publication April 18, 2000.

Corresponding author: Ahmet Karadag, MD, Department of Pediatrics, Fatih University Medical School, Ciftlik Caddesi No. 57 06510, Emek Ankara, Turkey (e-mail:

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