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Agenesis of the corpus callosum. An autopsy study in fetuses

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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.

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Acknowledgments

The authors wish to thank the lab technicians at the Department of Pathology at Meir Medical Center, especially Ms. Masha Munster for their dedicated skillful work and kind collaboration over many years.

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Authors and Affiliations

  1. Department of Pathology, Meir Medical Center, 59 Tshernichovsky St., Kfar Saba, 44281, Israel

    Debora Kidron

  2. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

    Debora Kidron, Liat Ben Sira, Gustavo Malinger, Dorit Lev, Reuven Sharony & Tally Lerman Sagie

  3. Child Development Center, Maccabi Health Services, Rishon Lezion, Israel

    Daniel Shapira

  4. Pediatric Radiology Unit, Tel Aviv Medical Center, Tel Aviv, Israel

    Liat Ben Sira

  5. GYN Ultrasound Division, Tel Aviv Medical Center, Tel Aviv, Israel

    Gustavo Malinger

  6. Fetal Neurology Clinic and Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel

    Dorit Lev

  7. Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Andreea Cioca

  8. Institute of Genetics and Ob/Gyn Department, Meir Medical Center, Kfar Saba, Israel

    Reuven Sharony

  9. Fetal Neurology Clinic and Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel

    Tally Lerman Sagie

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  1. Debora Kidron
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  2. Daniel Shapira
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  3. Liat Ben Sira
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  4. Gustavo Malinger
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  5. Dorit Lev
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  6. Andreea Cioca
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  7. Reuven Sharony
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Correspondence to Debora Kidron.

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Kidron, D., Shapira, D., Ben Sira, L. et al. Agenesis of the corpus callosum. An autopsy study in fetuses. Virchows Arch 468, 219–230 (2016). https://doi.org/10.1007/s00428-015-1872-y

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  • DOI: https://doi.org/10.1007/s00428-015-1872-y

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