Abstract
Ganglionic eminence is the main transitory proliferative structure of the ventral telencephalon in human fetal brain and it contributes for at least 35% to the population of cortical interneurons; however data on the human GE anomalies are scarce. We report 5 fetal MR imaging observations with bilateral symmetric cavitations in their GE regions resembling an inverted open C shape and separating the GE itself form the deeper parenchyma. Imaging, neuropathology, and follow-up features suggested a malformative origin. All cases had in common characteristics of lissencephaly with agenesis or severe hypoplasia of corpus callosum of probable different genetic basis. From our preliminary observation, it seems that GE cavitations are part of conditions which are also accompanied by severe cerebral structure derangement.
Highlights
The findings reported in expert sonography examinations (Online Table 1) were CC agenesis in all 5 cases, as well reduced cranial and cerebellar biometry, mild-moderate ventriculomegaly in 3 cases, and reduced whole-body biometry in 2 cases
None of the cases presented at autopsy or at clinical examination after birth had ambiguous genitalia, which could be related to some type of lissencephaly such as the one Xlinked ARX gene. It appears that GE cavitations are an aspect of more complex conditions associated with severe cerebral structural derangement
All 5 cases demonstrated reduction of biometric brain param- a slight trend toward mild reduction (0.85 SD, 0.09 m2/s), remained eters (On-line Table 1), agenesis or severe hypoplasia of the
Summary
The main purpose of this report is to present the imaging and, when available, pathology data of this rare finding
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