Sirenomelia of an intracytoplasmic sperm injection conceptus: a case report and review of mechanism.
Postmortem dissection of the 18-week male conceptus, product of intracytoplasmic sperm injection (ICSI), demonstrated the hallmark findings of sirenomelia. The lower legs were fused and the left knee was rotated medially. Internal organs showed hypoplastic lungs, a multicystic kidney, and unilateral ureteral hypoplasia. The vitelline artery was absorbed, in a classic fashion, into the umbilical artery and communicated with the aorta at a point proximal to the iliac arteries. The tributaries distal to this point were hypoplastic. This finding is consistent with previously documented cases of sirenomelia and is thought to be the pathogenetic mechanism resulting in a vascular steal from the lower extremities. A rare finding was the presence of a penis on the dorsal side just below a perforate anus. In this case report, we discuss the pertinent clinical history and autopsy findings. A brief review of the mechanism thought to give rise to sirenomelia is provided. To our knowledge, this is the first reported case of sirenomelia in an ICSI conceptus.
Bakhtar
Omid
O
UCSD Medical Center, Department of Pathology, San Diego, CA 92103, USA. Obakhtar@ucsd.edu
Benirschke
Kurt
K
Masliah
Eliezer
E
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D000028:Abortion, Induced; D001011:Aorta / Q000002:abnormalities / Q000196:embryology / Q000473:pathology; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D005260:Female; D005313:Fetal Death; D006801:Humans; D007621:Karyotyping; D008297:Male; D008953:Models, Anatomic; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011859:Radiography; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods*; D014463:Ultrasonography; D014469:Umbilical Arteries / Q000002:abnormalities / Q000196:embryology / Q000473:pathology