title: Agenesis of the corpus callosum. An autopsy study in fetuses.
abstract: Agenesis of the corpus callosum is currently diagnosed prenatally with ultrasound and MRI. While the diagnostic aspects of callosal defects are widely addressed, anatomo-histological data from fetal autopsies are sparse. Callosal defects were present in 50 fetal autopsies. Four distinct groups of complete, partial, hypoplastic, and mixed defects were determined by the gross and histologic details of the corpus callosum. These details helped to rule out other midline defects such as holoprosencephaly. Additional autopsy findings enabled specific diagnoses and suggested etiopathogeneses. Hypoplastic and mixed defects were associated with more abnormalities of the cerebral hemispheres and internal organs. The four groups did not differ according to gender, external dysmorphism, or cerebellar and brainstem anomalies. Defects were classified as syndromic (68 %), encephaloclastic (8 %), undetermined (14 %), or isolated (10 %) based on the autopsy findings. Isolated agenesis of the corpus callosum was diagnosed in only 10 % of the cases in this series, compared to higher numbers diagnosed by prenatal ultrasonography and MRI. Therefore, the autopsy, through its detailed, careful evaluation of external, as well as gross and histological internal features, can elucidate the etiopathogenesis of agenesis of the corpus callosum and suggest specific diagnoses which cannot be ascertained by prenatal imaging.
authors.affiliation: Department of Pathology, Meir Medical Center, 59 Tshernichovsky St., Kfar Saba, 44281, Israel. dkidron@clalit.org.il.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. dkidron@clalit.org.il.
authors.forename: Debora
authors.initials: D
authors.lastname: Kidron
authors.affiliation: Child Development Center, Maccabi Health Services, Rishon Lezion, Israel. Shapira_da@mac.org.il.
authors.forename: Daniel
authors.initials: D
authors.lastname: Shapira
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. bensiraliat@gmail.com.|Pediatric Radiology Unit, Tel Aviv Medical Center, Tel Aviv, Israel. bensiraliat@gmail.com.
authors.forename: Liat
authors.initials: L
authors.lastname: Ben Sira
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. gmalinger@gmail.com.|GYN Ultrasound Division, Tel Aviv Medical Center, Tel Aviv, Israel. gmalinger@gmail.com.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Malinger
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. lev@wolfson.health.gov.il.|Fetal Neurology Clinic and Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. lev@wolfson.health.gov.il.
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.affiliation: Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. cioca_andre@yahoo.com.
authors.forename: Andreea
authors.initials: A
authors.lastname: Cioca
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. reuven.sharony@gmail.com.|Institute of Genetics and Ob/Gyn Department, Meir Medical Center, Kfar Saba, Israel. reuven.sharony@gmail.com.
authors.forename: Reuven
authors.initials: R
authors.lastname: Sharony
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. tally.sagie@gmail.com.|Fetal Neurology Clinic and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. tally.sagie@gmail.com.
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman Sagie
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000473:pathology*; D001344:Autopsy; D005260:Female; D005333:Fetus / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D011247:Pregnancy; D012737:Sex Factors; D016216:Ultrasonography, Prenatal / Q000379:methods
keywords: Agenesis of corpus callosum; Etiopathogenesis; Fetal autopsy; Malformation; Syndrome