Perisylvian polymicrogyria (PP) is a malformation of cortical development in which the extent of abnormal cortical organisation varies, ranging from unilateral or bilateral involvement of the opercular and perisylvian regions, to the parietal and superior temporal regions. We have described 19 patients with various degrees of neurologic dysfunction and mental retardation. Epilepsy was present in 58%' of patients and usually began between the ages of 6 and 10 years. Seizures were drug resistant in only 1 patient, with the remaining patients well (36.4%) or partially (58.4%) controlled. Pseudobulbar palsy was present in 100% of patients, while a cognitive deficit of variable severity was found in 84% of subjects. We describe a family in which PP was present in six members of three consecutive generations; analysis of the pedigree and severity of the phenotype in the affected male are consistent with the transmission of an X-linked dominant trait. In three other patients aetiology was detected: in one case it was secondary to a cytomegalovirus infection, in another it was a monozygotic twin with intra-utérine death of the co-twin and in multiple-malformation syndrome (Seckel). This study indicates that the aetiopathogenetic, clinical and epileptic spectrum in this syndrome is broad but that PP must be suspected in all patients with mild or severe mental retardation and with diplegia of facial, pharyngeal and masticator muscles.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1999|
ASJC Scopus subject areas
- Clinical Neurology