Xeroderma Pigmentosum

A 40-year-old woman presents with weakness, easy fatigability, nausea, and diarrhea.

HPI She has had a long and severe course of rheumatoid arthritis for which she has been taking methotrexate (a folic acid antagonist).

PE VS: normal. PE: pallor; mild tongue inflammation (glossitis); funduscopic exam normal; chest sounds within normal limits; abdomen shows no hepatosplenomegaly; no lymphadenopathy; no neurologic signs (vs. vitamin B12 deficiency megaloblastic anemia).

Labs CBC: hypersegmented PMNs (> 5 to 7 lobes); megaloblastic

RBCs (mean corpuscular volume >100); vitamin B12level normal; folate level in RBCs low (vs. vitamin B!2 deficiency megaloblastic anemia).

Treatment Folic acid supplementation.

Discussion Folic acid is found mainly in green leaves and is important for the synthesis of DNA and RNA. It also acts as a coenzyme for 1-carbon transfer and is involved in methylation reactions. Deficiency is associated with alcoholism, pregnancy (megaloblastic anemia of pregnancy) , dietary deficiencies, and drugs such as TMP-SMX, methotrexate, phenytoin, and proguanil.

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