Sotos syndrome

Case contributed by Dr Prashant Gupta

Presentation

Clinically typical Sotos Syndrome with macrocephaly, mental retardation and advanced bone age; dysmorphic facies were also present.

Patient Data

Age: 3 yrs
Gender: Female
Modality: MRI

There is mild periventricular white matter paucity with dilated trigone and lateral ventricles.

Note that the splenium of 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:

  1. ventricular abnormalities
  2. extra cerebral fluid spaces
  3. midline abnormalities
  4. migrational abnormalities
  5. others
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Case Information

rID: 17782
Case created: 12th May 2012
Last edited: 15th Dec 2015
Inclusion in quiz mode: Included

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