Perisylvian Polymicrogyria Syndrome

Perisylvian polymicrogyria syndrome is the most commonly described polymicrogyria syndrome. Like other forms of polymicrogyria, it is characterized histologically by an abnormal 4-layer cortex. On the gross level, there are multiple small, partly fused gyri separated by shallow sulci in a perisylvian and perirolandic distribution with exposure of the insula. These findings are symmetric in 80% of cases. In addition, there is increased cortical thickness and irregularity of the gray-white matter junction.

Inheritance may be autosomal dominant, autosomal recessive, or X-linked. Patients may have pseudobulbar signs, cognitive impairment, epilepsy, arthrogryposis and/or lower motor neuron disease.

References

• Chang B, Walsh CA, Apse K, Bodell A. Polymicrogyria Overview. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2005 Apr 18 [updated 2007 Aug 6].
• Kuzniecky R, Andermann F. The congenital bilateral perisylvian syndrome: imaging findings in a multicenter study. CBPS Study Group. AJNR Am J Neuroradiol. 1994 Jan;15(1):139-44.
• Sztriha L, Guerrini R, Harding B, Stewart F, Chelloug N, Johansen JG. Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome. Am J Med Genet A. 2004 Jun 15;127A(3):313-7.