Case report: cerebellar hemi-hypoplasia

Area of Science:

• Neurology
• Developmental Biology
• Medical Imaging

Background:

• Cerebellar hypoplasia is a significant finding in fetal brain pathology, often presenting as a generalized or symmetric defect.
• Isolated or asymmetric cerebellar hypoplasia is uncommon, and its etiological factors are not fully understood.
• The prevalence of cerebellar hypoplasia as a congenital defect in the human population remains undetermined.

Purpose of the Study:

• To describe a unique case of unilateral cerebellar hypoplasia with an intact vermis detected during prenatal screening.
• To investigate the potential disruptive vascular etiology of this specific cerebellar malformation.
• To illustrate the utility of serial prenatal and postnatal imaging in characterizing fetal brain abnormalities.

Main Methods:

• Prenatal ultrasound examination for initial detection of cerebellar hypoplasia.
• Serial ultrasound assessments throughout gestation to monitor changes in the abnormality.
• Post-delivery cranial ultrasound and Magnetic Resonance Imaging (MRI) for detailed anatomical evaluation.

Main Results:

• A case of unilateral cerebellar hypoplasia, affecting one cerebellar hemisphere while sparing the vermis, was identified.
• Dynamic changes observed in the fetal ultrasound suggested a process of destruction of previously normally formed cerebellar tissue.
• Postnatal imaging confirmed the unilateral cerebellar hypoplasia and provided detailed structural information.

Conclusions:

• Unilateral cerebellar hypoplasia with an intact vermis is a rare presentation of fetal brain pathology.
• The observed dynamic changes support a hypothesis of a disruptive vascular event as the etiology.
• Advanced neuroimaging techniques are crucial for the diagnosis and characterization of congenital cerebellar malformations.