Presentation
Clinically typical Sotos syndrome with macrocephaly, developmental delay and advanced bone age; dysmorphic facies were also present.
Patient Data
Age: 3 years
Gender: Female
From the case:
Sotos syndrome
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There is mild periventricular white matter paucity with dilated trigone and lateral ventricles.
Note that the splenium of the corpus callosum is hypoplastic (compared to an age-matched control)
No migrational abnormalities.
Case Discussion
Multiple findings of Sotos syndrome that enable neuroimaging to aid in the diagnosis. Findings are grouped as:
- ventricular abnormalities
- extracerebral fluid spaces
- midline abnormalities
- migrational abnormalities
- others