Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report
Karlo J Lizarraga1, Antonio Af De Salles
1Division of Neurosurgery, David Geffen School of Medicine, University of California at Los Angeles, 10945 Le Conte Avenue, Room 2120, Los Angeles, CA 90095, USA. adesalles@mednet.ucla.edu.
Journal of Medical Case Reports
|September 22, 2011
Summary
This case report details a patient with Poland syndrome and multiple brain cavernous malformations, suggesting a genetic basis for Poland syndrome rather than a vascular disruption. Further research is needed.
Area of Science:
- Neurology
- Genetics
- Vascular Malformations
Background:
- Poland syndrome is a congenital disorder affecting chest and hand symmetry.
- Current theories suggest an early embryogenesis vascular alteration of the subclavian artery.
- Cavernous malformations are vascular hamartomas often linked to genetic factors, especially in familial cases.
Purpose of the Study:
- To report the first case of multiple cavernous malformations associated with Poland syndrome.
- To explore the potential genetic etiology of Poland syndrome.
Main Methods:
- Case report of a 41-year-old Caucasian male with Poland syndrome.
- Patient presented with seizures and was diagnosed with multiple brain, cerebellum, and brain stem cavernous malformations.
- Lesions showed a predominance in the left hemisphere.
Main Results:
- The patient presented with Poland syndrome on the right and multiple cavernous malformations predominantly in the left hemisphere.
- The distribution of lesions challenges the theory of a simple mechanistic vascular disruption.
Conclusions:
- A genetic alteration, similar to familial cavernous malformations, may be the underlying cause of Poland syndrome in this patient.
- This finding supports a genetic rather than a mechanistic vascular etiology for Poland syndrome.
- Further genetic and pathological studies are recommended to understand Poland syndrome.
