CNS findings in iniencephaly: case report and literature review.
A male iniencephalic foetus of about 25 weeks gestation is described. The baby was born to a 22-year-old mother, who presented with abdominal pain of 1 day duration. An ultrasound scan at that time showed multiple foetal anomalies and the pregnancy was terminated. A stillborn baby was delivered. At autopsy, characteristic findings of iniencephaly were seen in the dysmorphic foetus as well as multiple structural abnormalities. The autopsy results, with emphasis on the neuropathological findings, are described and various hypotheses of the pathogenesis of iniencephaly are discussed with reference to theories of embryological development and other cases in the literature.
Department of Anatomical Pathology, South Western Area Pathology Service, Liverpool NSW, Australia. christine.loo@swsahs.nsw.gov.au
C K
CK
Loo
B
B
Freeman
D
D
Stanford
D000015:Abnormalities, Multiple; D000028:Abortion, Induced; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004453:Echoencephalography; D005260:Female; D005865:Gestational Age; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal