The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Publication/Presentation Date
8-1-2010
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.
Volume
32
Issue
7
First Page
550
Last Page
555
ISSN
1872-7131
Published In/Presented At
Poduri, A., Chitsazzadeh, V., D'Arrigo, S., Fedrizzi, E., Pantaleoni, C., Riva, D., Busse, C., Küster, H., Duplessis, A., Gaitanis, J., Sahin, M., Garganta, C., Topcu, M., Dies, K. A., Barry, B. J., Partlow, J., Barkovich, A. J., Walsh, C. A., & Chang, B. S. (2010). The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain & development, 32(7), 550–555. https://doi.org/10.1016/j.braindev.2009.08.005
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
19751967
Department(s)
Department of Pediatrics
Document Type
Article