Maternal abetalipoproteinemia resulting in multiple fetal anomalies.
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.
Seckeler
Michael D
MD
Department of Pediatrics, Commonwealth Health Center, Saipan, Northern Mariana Islands. mseckeler@cnmidph.net
Linden
Jennifer
J
D000012:Abetalipoproteinemia / Q000378:metabolism*; D000015:Abnormalities, Multiple / Q000209:etiology*; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000378:metabolism*; D014802:Vitamin A Deficiency / Q000378:metabolism*