Related Experiment Videos
The Proteus syndrome: CNS manifestations
R B Dietrich1, D E Glidden, G M Roth
1Department of Radiological Sciences, University of California, Irvine, USA.
AJNR. American Journal of Neuroradiology
|June 5, 1998
Summary
Proteus syndrome, a hamartomatous disorder, can involve severe central nervous system (CNS) abnormalities like hemimegalencephaly. Early neuroimaging in children with skin lesions can aid in diagnosing this complex condition.
Area of Science:
- Neurology
- Genetics
- Dermatology
Background:
- Proteus syndrome is a rare, complex hamartomatous disorder.
- It is characterized by diverse somatic overgrowth manifestations.
- Central nervous system (CNS) involvement is not widely recognized.
Observation:
- This report details a case of Proteus syndrome with severe, evolving CNS abnormalities.
- Initial neuroimaging revealed hemimegalencephaly, subependymal calcified nodules, and periventricular cysts.
- The patient later developed dural sinus thrombosis.
Findings:
- Hemimegalencephaly was a significant CNS finding in this case.
- Review of previous literature suggests hemimegalencephaly may have been present in eight other reported patients with Proteus syndrome.
- The combination of hemimegalencephaly and pigmented skin lesions is a key diagnostic consideration.
Implications:
- This case expands the understanding of Proteus syndrome's potential CNS manifestations.
- It highlights the importance of neuroimaging in diagnosing Proteus syndrome, especially when CNS abnormalities are present.
- Considering Proteus syndrome in the differential diagnosis for hemimegalencephaly with skin findings can lead to earlier and more accurate diagnosis.