Congenital microcephaly with a simplified gyral pattern: associated findings and their significance
Y Adachi1, A Poduri, A Kawaguch
1Department of Radiology and Biomedical Imaging, University of California, San Francisco, 94143, USA. a-yuko@fb4.so-net.ne.jp
Background And Purpose:
Primary microcephaly is an incompletely understood malformation that is often associated with developmental brain anomalies, yet whether the associated anomalies result from the microcephaly itself or from associated developmental/genetic mishaps is not yet understood. This study reviewed and analyzed a large number of MR imaging scans of children with microcephaly to determine the frequency of associated morphologic findings and to assess whether these findings were associated with the severity of the microcephaly.
Materials And Methods:
MR images of 119 patients with clinically diagnosed microcephaly were retrospectively reviewed, focusing on the degree of microcephaly, simplification of gyri, white matter volume, abnormalities of the corpus callosum, size and structure of posterior fossa contents, and myelination. Associations among the findings were evaluated by using the Spearman correlation coefficient and the Fisher exact test.
Results:
Among 7 patients with mild, 42 with moderate, and 70 with extreme microcephaly, a significant correlation was identified between a greater degree of microcephaly and both a greater degree of simplified gyration and decreased white matter volume. The severity of the callosal anomaly showed a lower but still significant correlation with the severity of microcephaly. Degree of hypoplasia of posterior fossa structures, delay in myelination, and abnormality of the basal ganglia did not correlate with the degree of microcephaly.
Conclusions:
A strong correlation was found between the degree of microcephaly, the volume of white matter, and the presence of a simplified gyral pattern. These associations should be considered when attempting to use neuroimaging for segregation and classification of patients with microcephaly.
Insights
The severity of microcephaly strongly correlates with simplified brain gyration and reduced white matter volume in children. These findings aid in classifying microcephaly using neuroimaging.
Area of Science:
- Neuroimaging
- Developmental Neuroscience
- Pediatric Neurology
Background:
- Primary microcephaly is a complex brain malformation with poorly understood associated anomalies.
- The origin of these anomalies, whether from microcephaly itself or genetic factors, remains unclear.
Purpose of the Study:
- To analyze MR imaging in children with microcephaly.
- To determine the frequency of associated morphologic findings.
- To assess the relationship between these findings and microcephaly severity.
Main Methods:
- Retrospective review of 119 pediatric microcephaly MR images.
- Evaluation of gyral simplification, white matter volume, corpus callosum, posterior fossa, and myelination.
- Statistical analysis using Spearman correlation and Fisher exact test.
Main Results:
- Greater microcephaly severity correlated significantly with simplified gyration and decreased white matter volume.
- Corpus callosum anomalies showed a significant, though weaker, correlation with microcephaly severity.
- Posterior fossa hypoplasia, delayed myelination, and basal ganglia abnormalities did not correlate with microcephaly severity.
Conclusions:
- A strong association exists between microcephaly degree, white matter volume, and simplified gyral patterns.
- These neuroimaging correlations are crucial for classifying and segregating patients with microcephaly.
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