title: The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
abstract: BACKGROUND
  Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone.
  
  
  METHODS
  Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed.
  
  
  RESULTS
  Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis.
  
  
  CONCLUSIONS
  The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis.
authors.affiliation: Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02215, USA.
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.forename: Vida
authors.initials: V
authors.lastname: Chitsazzadeh
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Ermellina
authors.initials: E
authors.lastname: Fedrizzi
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
authors.forename: Daria
authors.initials: D
authors.lastname: Riva
authors.forename: Claudia
authors.initials: C
authors.lastname: Busse
authors.forename: Helmut
authors.initials: H
authors.lastname: Küster
authors.forename: Adre
authors.initials: A
authors.lastname: Duplessis
authors.forename: John
authors.initials: J
authors.lastname: Gaitanis
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
authors.forename: Cheryl
authors.initials: C
authors.lastname: Garganta
authors.forename: Meral
authors.initials: M
authors.lastname: Topcu
authors.forename: Kira A
authors.initials: KA
authors.lastname: Dies
authors.forename: Brenda J
authors.initials: BJ
authors.lastname: Barry
authors.forename: Jennifer
authors.initials: J
authors.lastname: Partlow
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Bernard S
authors.initials: BS
authors.lastname: Chang
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000033:anatomy & histology / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D055815:Young Adult