Extreme caudal agenesis. Possible drug-related etiology?
BACKGROUND
Caudal regression syndrome (CRS) is a rare anomaly of the lower body pole that represents a continuum of congenital malformations ranging from isolated sacral agenesis to absence of the lumbosacral spine and major visceral anomalies. While the exact etiology of this syndrome is unclear, maternal diabetes, genetic factors, teratogens and vascular anomalies altering blood flow have been hypothesized to play a role in its pathogenesis.


METHODS
A fetus had extreme hypotrophy of the caudal body pole, aplasia of the lower spine and complete renal agenesis diagnosed in the second trimester by ultrasound. Maternal history revealed the use of minoxidil solution for preventing hair loss for four years prior to and during gestation. Also, the mother had taken trimethoprim-sulfamethoxazole during the first trimester for treatment of upper respiratory disease. No maternal diabetes or history of familial genetic diseases was evident.


CONCLUSIONS
In an extreme form of CRS consisting of complete aplasia of the lower body pole and viscera and additional malformations, a possible drug-related etiology was suggested but should be confirmed by more studies.
Rojansky
Nathan
N
Departments of Obstetrics and Gynecology and of Pathology, Hadassah Medical Centers, Hebrew University Medical School, Jerusalem, Israel. rojan@cc.huji.ac.il
Fasouliotis
Sozos J
SJ
Ariel
Ilana
I
Nadjari
Michael
M
D000015:Abnormalities, Multiple / Q000139:chemically induced*; D000284:Administration, Oral; D000287:Administration, Topical; D000328:Adult; D000890:Anti-Infective Agents / Q000008:administration & dosage / Q000009:adverse effects*; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007866:Leg / Q000002:abnormalities; D008161:Lumbosacral Region / Q000002:abnormalities*; D008914:Minoxidil / Q000008:administration & dosage / Q000009:adverse effects*; D011247:Pregnancy; D012447:Sacrum / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000008:administration & dosage / Q000009:adverse effects*; D014665:Vasodilator Agents / Q000008:administration & dosage / Q000009:adverse effects*
D000890:Anti-Infective Agents; D014665:Vasodilator Agents; D008914:Minoxidil; D015662:Trimethoprim, Sulfamethoxazole Drug Combination