Polymicrogyria is one of many malformations of cortical development (see classification system for cortical malformations), and along with grey matter heterotopias, falls under a bewildering group of conditions characterised by abnormalities both in migration of neurons to the cortex and abnormal cortical organization.
Although often sporadic or genetic, polymicrogyria is also seen secondary to intrauterine cytomegalovirus (CMV) infection, vascular compromise in twins, or anomaly–mental retardation syndromes including
- Adams-Oliver syndrome : variant
- Arima syndrome
- Galoway-Mowat syndrome
- Delleman syndrome
- Zellweger syndrome
- Fukuyama muscular dystrophy
It is often associated with schizencephaly : the schizencephalic cleft is 'always' lined by polymicrogyic cortex.
The clinical presentation is very varied, depending of the degree of involvement, bilaterality, and associated syndromes. Some patients are essentially normal. Others have epilepsy of varying severity. Others still are severely disabled 6.
Thought to occur from a neuronal insult in late (after 20 weeks) gestation. There is abnormal arrangement and excessive folding of cerebral cortical cell layers. This can be associated with fusion of the gyral surfaces 3.
Some, such as bilateral perisylvian polymicrogyria have been mapped to a number of specific genetic mutations (e.g. autosomal dominant (22q11.2 and others))
Distribution is varied, however there is a predilection for the perisylvian region which is involved in 80% of patients and bilateral involvement is common (60%).
- frontal : ~ 70 % : gyrus rectus and cingulate gyrus typically spared
- parietal : ~ 63 %
- temporal : ~ 38 % : hippocampus typically spared
- occipital : ~ 7 % : visual cortex is typically spared
Recurring patters of involvement have led to some morphological sub types being described which include 4:
- perisylvian : ~ 60%
- generalized : ~ 13%
- frontal : ~ 5%
- parasagittal parieto-occipital : ~ 3%
CT is insensitive to the actual morphological changes, only able to resolve thickened poorly formed gyri. The microgyri are too small to identify. Associated abnormalities may be readily visible however (e.g. schizencephaly).
MRI is the modality of choice for assessing polymicrogyria. Both morphology and signal intensity may be abnormal.
Polymicrogyric cortex usually has signal characteristics similar to normal grey matter. The subjacent white matter is not infrequently hyperintense on T2 weighted images (20 - 27%) which may relate to dilated perivascular spaces. Occasionally (< 5%), and perhaps more so in patients with congenital infection, the abnormal cortex demonstrates regions of calcification.
The numerous small gyri that lend their name to the condition are very small and only seen on thin section high resolution MRI, and even then may be difficult to distinguish from pachygyria, as both as associated with broad enlarged and often thickened gyri.
The grey-white junction is often the best location to identify the 'bumpy' contour which on thicker slices may manifest as blurring.
Treatment and prognosis
No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, commonly present.
- 1. Barkovich AJ, Kuzniecky RI, Jackson GD et-al. Classification system for malformations of cortical development: update 2001. Neurology. 2001;57 (12): 2168-78. Neurology (full text) - Pubmed citation
- 2. Barkovich AJ. Pediatric neuroimaging. Lippincott Williams & Wilkins. (2005) ISBN:0781757665. Read it at Google Books - Find it at Amazon
- 3. Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol. 20 (10): 1814-21. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 4. Leventer RJ, Jansen A, Pilz DT et-al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010;133 (Pt): 1415-27. doi:10.1093/brain/awq078 - Free text at pubmed - Pubmed citation
- 5. Thompson JE, Castillo M, Thomas D et-al. Radiologic-pathologic correlation polymicrogyria. AJNR Am J Neuroradiol. 1997;18 (2): 307-12. AJNR Am J Neuroradiol (citation) - Pubmed citation
- 6. Sarnat HB. Malformations of the nervous system. Elsevier Science Health Science div. (2008) ISBN:0444518967. Read it at Google Books - Find it at Amazon