Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis

Area of Science:

• Neuroscience
• Developmental Biology
• Medical Imaging

Background:

• Holoprosencephaly (HPE) is a spectrum of congenital brain malformations.
• Understanding the topological variations in HPE is crucial for developmental studies.

Purpose of the Study:

• To present an MRI-based anatomic analysis of diverse holoprosencephaly (HPE) forms.
• To apply a topological systematics for describing and quantifying HPE malformations.
• To explore correlations between topological parameters and brain growth in HPE.

Main Methods:

• MRI-based anatomic analysis of 9 human brains with lobar, semilobar, and alobar HPE.
• Utilized a defined topological systematics dividing the prosencephalic midline into diencephalic (DD), telencephalic (TT), and diencephalic-telencephalic (DT) segments.
• Correlated total telencephalic growth with the length of the midline telencephalic segment.

Main Results:

• Topological anomalies in HPE predominantly involved the telencephalic (TT) segment, with variable involvement of diencephalic (DD) and diencephalic-telencephalic (DT) segments.
• A strong positive correlation was observed between total telencephalic growth and the length of the midline telencephalic segment in HPE brains.
• Normal midline topology initiated with a small posterior corpus callosum in malformations.

Conclusions:

• The proposed topological system provides a sensitive framework for analyzing HPE, correlating with developmental stages and genetic/non-genetic determinants.
• The findings highlight the significance of the telencephalic midline segment in HPE development and growth.
• Further research can utilize this system to investigate the etiology of HPE.