Sotos syndrome

Case contributed by Dr Prashant Gupta

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
MRI

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
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Case information

rID: 17782
Published: 12th May 2012
Last edited: 13th Aug 2018
Inclusion in quiz mode: Included

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