Seckeler MD, Linden J
Maternal abetalipoproteinemia resulting in multiple fetal anomalies. [Case Reports, Journal Article, Research Support, Non-U.S. Gov't]
Neonatology 2008; 94(4):310-3.
Abetalipoproteinemia is a rare genetic condition that results in an inability of the body to absorb dietary fats, including fat-soluble vitamins. Deficiencies of these vitamins are known to cause a wide range of clinical effects ranging from blindness to coagulopathy and neuropathy. We present the case of a child with multisystem anomalies born to a mother with abetalipoproteinemia and provide a brief review of the literature about vitamin A and fetal development. Mothers at high risk for vitamin deficiencies should be screened and counseled on the potential benefits, and risks, of vitamin supplementation.
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