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December 1997, Vol 151, No. 12 >
Article | December 1997

Pathological Case of the Month FREE

Angela K. Sidler, MD; Butch M. Huston, MD; David B. Thomas, MD
Arch Pediatr Adolesc Med. 1997;151(12):1265-1266. doi:10.1001/archpedi.1997.02170490091019.
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A 10-MONTH-OLD white girl was referred to the University of North Carolina Hospitals for failure to thrive, chronic diarrhea, and a slightly protuberant abdomen. After 3 months of breastfeeding, a commercially available formula (Similac, Ross Products Division, Abbott Laboratories, Columbus, Ohio) was introduced, which resulted in episodes of emesis and large loose stools. At 5 months poor growth had become evident with weight less than the fifth percentile; height in the 25th percentile; and head circumference less than the fifth percentile. At 7 months of age, the patient's diarrhea was severe with voluminous watery green stools devoid of mucus or blood. Her weight continued to decline. A gluten-free diet failed to result in improvement of her condition. Motor development was delayed. Family history was unremarkable.

Peripheral blood smear showed acanthocytes (Figure 1), with a hemoglobin level of 120 g/L and a hematocrit of 0.36. Prothrombin time, partial thromboplastin time,

REFERENCES

1 +
Bassen FA, Kornzweig AL.  Malformation of the erythrocytes in a case of atypical retinitis pigmentosa . Blood . 1950;;5:381-387.
2 +
Rader DJ, Brewer HB.  Abetalipoproteinemia: new insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease . JAMA . 1993;;270: 865-869.
3 +
Kane JP, Havel RJ.  Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins . In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metobolic and Molecular Bases of Inherited Disease . 7th ed. New York, NY: McGraw-Hill Book Co; 1995;:1853-1885.
4 +
Gregg RE, Wetterau JR.  The molecular basis of abetalipoproteinemia . Curr Opin Lipidol . 1994;;5:81-86.
5 +
Ricci B, Sharp D, O'Rourke E, et al.  A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia . J Biol Chem . 1995;; 270:14281-1425.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Bassen FA, Kornzweig AL.  Malformation of the erythrocytes in a case of atypical retinitis pigmentosa . Blood . 1950;;5:381-387.
2 +
Rader DJ, Brewer HB.  Abetalipoproteinemia: new insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease . JAMA . 1993;;270: 865-869.
3 +
Kane JP, Havel RJ.  Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins . In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metobolic and Molecular Bases of Inherited Disease . 7th ed. New York, NY: McGraw-Hill Book Co; 1995;:1853-1885.
4 +
Gregg RE, Wetterau JR.  The molecular basis of abetalipoproteinemia . Curr Opin Lipidol . 1994;;5:81-86.
5 +
Ricci B, Sharp D, O'Rourke E, et al.  A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia . J Biol Chem . 1995;; 270:14281-1425.

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