Presenter
Jacob A. Houpt
Authors
Jacob A. Houpt 1, Yuanyuan Gu 1, Lee Cyn Ang 1
1: Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON, Canada.
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
This is an autopsy case of a female stillbirth with reported gestational age of 23 weeks. The mother is a healthy 40-year-old G2T0P0A1L0 who underwent in vitro fertilization via donor egg. At gestational age of 19 weeks and 2 days, ultrasound demonstrated a series of unexpected intracranial findings, in addition to a two-vessel umbilical cord and small kidneys. There is a purported paternal history of Fabry disease, but the father stated that he was negative on genetic testing. Based on the imaging findings, they elected to end the pregnancy via induction of labour.
Discussion points
- How would you characterize the set of abnormalities?
- What possible etiologies might explain them?
Reveal Diagnosis
Marked asymmetric dilatation of the right lateral ventricle with severely attenuated parieto-occipital parenchyma and dysgenesis of the corpus callosum; a constellation of findings described as asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID).
Additional relevant investigations and comment:
AVID represents a set of concurrent imaging and pathological findings found in the prenatal cohort. It is proposed that the interhemispheric cysts encountered in AVID communicate with the lateral ventricle and resulting from an expansion of the tela choroidea detaching from the thalamus, structurally disrupting commissural fibre migration and leading to corpus callosal abnormalities. While some cases have been associated with mutations in the EMX2 gene, other proposed etiologies include maternal infection/toxin exposure.
References
DOI: 10.7863/jum.2012.31.11.1811
DOI: 10.1016/j.radcr.2023.08.019
DOI: 10.3171/2021.9.PEDS21252
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