Bilateral Perysilvian Polymicrogyria With Cerebellar Dysplasia and Ectopic Neurohypophysis

Abstract

Polymicrogyria (involving or not the sylvian scissure) with cerebellar cortical dysplasia or vermis hypoplasia has been reported in few cases. In addition, the association between ectopic neurohypophysis and other cortical malformations, including bilateral perisylvian polymicrogyria, has been documented. We describe a girl affected by focal epilepsy since the age of 2 years. Magnetic resonance imaging (MRI) at 11 and 22 years of age showed bilateral perisylvian polymicrogyria, dysplasia of the left cerebellar hemisphere, and ectopic neurohypophysis. Genetic tests, including fluorescent in situ hybridization 22q11.2 and array-comparative genomic hybridization, and pituitary hormones (at the age of 20 years) were normal. The patient is now 22 years old, and she is seizure free under therapy with lamotrigine and levetiracetam. To the best of our knowledge, this is the first description of this complex cerebral malformation. This finding confirms that bilateral perisylvian polymicrogyria can be associated with other cerebral malformations; cerebellum and neurohypophysis must be carefully evaluated in patients with polymicrogyria.

A case of Bilateral Perisylvian Syndrome with reading disability

“…BPS cases exhibit bilateral dysgenesis of the Sylvian fissure and surrounding gyri, which appears to occur because of a limited or absent arcuate fasciculus (Kilinc et al, 2015). This BPS case also had a relatively enlarged atrium of the lateral ventricle that is consistent with the BPS anatomical presentation and reduction of parietal white matter (Graff-Radford et al, 1986; Kilinc et al, 2015; Toldo et al, 2011). …”

Congenital Bilateral Perisylvian Syndrome: A Case Report

“…[6] CBPS has been reported to be associated with malformations such as arthrogryposis, [1] clubfeet, [1] micrognathia, [1] polydactyly, constriction band syndrome [3] and pituitary abnormalities. [11,12] Thirteen to thirty-three percent of cases have been reported to be associated with arthrogryposis multiplex congenital, which is characterized by joint contractures from birth. [13] Our patient also had an orthopedic abnormality in his right foot at birth which was thought to be clubfoot, and underwent surgery when he was 7.…”