A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype.
BACKGROUND
Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype.


METHODS
A 29-year-old woman decided to terminate her unwanted pregnancy because of ill health, as she had conceived soon after her last delivery by cesarian section. At 6 weeks of gestation, she took 2.5 mg of MTX 3 times a day for 7 days. The pregnancy termination failed, and the pregnancy was carried to term. A female infant was delivered who was growth retarded and had characteristic features of MTX embryopathy in addition to holoprosencephaly and other brain malformations, facial hypertrichosis, and long eyelashes--features that have not hitherto been described.


CONCLUSIONS
We report the first case of holoprosencephaly in association with MTX exposure during the first 6 weeks of gestation. Physicians and the public should be aware of the effects of MTX on the fetus during pregnancy.
Department of Pediatrics, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia. zain@sfh.med.sa
Mohammed Zain
MZ
Seidahmed
Meeralebbae M
MM
Shaheed
Omar B
OB
Abdulbasit
Hessa
H
Al Dohami
Mirghani
M
Babiker
Mohammed A
MA
Abdullah
Abdullah M
AM
Abomelha
D000014:Abnormalities, Drug-Induced; D005260:Female; D016142:Holoprosencephaly / Q000139:chemically induced* / Q000196:embryology* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008727:Methotrexate / Q000009:adverse effects*; D010641:Phenotype
D008727:Methotrexate