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Craniorachischisis with Exencephaly
Jessenia Guerrero1, Debra S Heller2, Ada Baisre de Leon2
1Pathology & Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Fetal and Pediatric Pathology
|January 29, 2020
Summary
Craniorachischisis, a severe neural tube defect, can occur with exencephaly in early pregnancy. This condition is distinct from anencephaly, though often associated with it.
Area of Science:
- Medical Genetics
- Developmental Biology
- Obstetrics
Background:
- Neural tube defects (NTDs) encompass a range of conditions, from spina bifida to anencephaly.
- Craniorachischisis and exencephaly represent severe forms of NTDs.
- These severe defects are rarely observed together.
Observation:
- A case report details a 25-year-old mother (G3, P1011) undergoing elective termination at 17 weeks' gestation.
- Fetal sonogram revealed anencephaly, confirmed as an open neural tube defect: craniorachischisis and exencephaly.
- No other fetal organ abnormalities were identified.
Findings:
- The fetus presented with a rare combination of craniorachischisis and exencephaly.
- This specific presentation occurred in the context of anencephaly.
Implications:
- Craniorachischisis, while often linked to anencephaly, can also present with exencephaly.
- This case highlights the spectrum of severe neural tube defects and their potential co-occurrence.
- Understanding these associations is crucial for prenatal diagnosis and genetic counseling.
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