The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
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.
Poduri
Annapurna
A
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02215, USA.
Chitsazzadeh
Vida
V
D'Arrigo
Stefano
S
Fedrizzi
Ermellina
E
Pantaleoni
Chiara
C
Riva
Daria
D
Busse
Claudia
C
Küster
Helmut
H
Duplessis
Adre
A
Gaitanis
John
J
Sahin
Mustafa
M
Garganta
Cheryl
C
Topcu
Meral
M
Dies
Kira A
KA
Barry
Brenda J
BJ
Partlow
Jennifer
J
Barkovich
A James
AJ
Walsh
Christopher A
CA
Chang
Bernard S
BS
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