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
Race: Indian/Pakistani
From the case:
Sotos syndrome
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:
- ventricular abnormalities
- extra cerebral fluid spaces
- midline abnormalities
- migrational abnormalities
- others
References:
- Schaefer GB, Bodensteiner JB, Buehler BA et-al. The neuroimaging findings in Sotos syndrome. Am. J. Med. Genet. 1997;68 (4): 462-5. Am. J. Med. Genet. (link) - Pubmed citation
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