Birth defects research. Part A, Clinical and molecular teratology · 2009
Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses.
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Kapur Raj P, Mahony Barry S, Finch Lisa, Siebert Joseph R
Аннотация
BACKGROUND: Evaluation of the cerebellar vermis is an important component of fetal autopsy, but lack of an established approach, inadequate normal anatomic data, and the subtle nature of some cerebellar malformations negatively affect concordance between prenatal ultrasound and autopsy diagnoses.
METHODS: Gross anatomy and sagittal histologic sections of vermis from 26 midgestation fetuses with no posterior fossa anomalies detected by prenatal ultrasound or autopsy were examined to establish stage-specific norms. These were compared to data from three fetuses with prenatal ultrasound diagnoses of hypoplasia or absence of the cerebellar vermis, each of which had no or equivocal gross cerebellar malformation at autopsy.
RESULTS: Two findings segregated cases from controls: (1) The ratio of the rostro-caudal length of the vermis to that of the cerebellar hemispheres was shorter for cases (<0.7), in comparison with controls (0.7-1). (2) The lobules of the vermis, particularly in the posterior lobe, were less arborized, and the nodulus (caudal-most lobule) was elongated. Prenatal sonograms from the three cases predicted more severe vermis hypoplasia than was evident at autopsy.
CONCLUSIONS: Prenatal ultrasound images that suggest moderate-to-severe hypoplasia of the cerebellar vermis may reflect relatively subtle malformations, which are recognized histologically by direct comparison with stage-matched control data. The data in this series and others suggest a somewhat consistent pattern of lobular malformation, which affects the caudal cerebellum, particularly the nodulus, most severely. Rotation of the cerebellum, secondary to an enlarged fourth ventricle, may account for discordance between ultrasound and autopsy findings.
METHODS: Gross anatomy and sagittal histologic sections of vermis from 26 midgestation fetuses with no posterior fossa anomalies detected by prenatal ultrasound or autopsy were examined to establish stage-specific norms. These were compared to data from three fetuses with prenatal ultrasound diagnoses of hypoplasia or absence of the cerebellar vermis, each of which had no or equivocal gross cerebellar malformation at autopsy.
RESULTS: Two findings segregated cases from controls: (1) The ratio of the rostro-caudal length of the vermis to that of the cerebellar hemispheres was shorter for cases (<0.7), in comparison with controls (0.7-1). (2) The lobules of the vermis, particularly in the posterior lobe, were less arborized, and the nodulus (caudal-most lobule) was elongated. Prenatal sonograms from the three cases predicted more severe vermis hypoplasia than was evident at autopsy.
CONCLUSIONS: Prenatal ultrasound images that suggest moderate-to-severe hypoplasia of the cerebellar vermis may reflect relatively subtle malformations, which are recognized histologically by direct comparison with stage-matched control data. The data in this series and others suggest a somewhat consistent pattern of lobular malformation, which affects the caudal cerebellum, particularly the nodulus, most severely. Rotation of the cerebellum, secondary to an enlarged fourth ventricle, may account for discordance between ultrasound and autopsy findings.