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.

Malformations of cortical development: current concepts and advanced neuroimaging review

“…This entity may be focal, multifocal or diffuse; unilateral or bilateral, symmetric or assymetric. In cases of perisylvian syndrome (Fig 7), there is polymicrogyria surrounding opercular portions with enlarged and vertically oriented sylvian fissures, extending to the parietal lobes, well demonstrated in the sagittal plane 2,47 . Polymicrogyria may, in some contexts, simulate pachygyria, since excessive cortical gyration, when very small, simulates a thickened cortex with smooth surface, but these entities may be more easily distinguished in volumetric MRI sequences with high resolution images.…”

“…A recent study involving hybrid genetic and MRI identified PAX6 as a gene in which mutations can cause unilateral polymicrogyria 36 . It has been reported clinical association with congenital arthtogryposis 2,5,47 and with some specific syndromes, such as Delleman syndrome, Fukuyama congenital muscular dystrophy, Neu-Laxova syndrome, hypomelanosis of Ito, Aicardi syndrome, and diGeorge syndrome 2 . Several particular patterns of polymicrogyria have been described; the main one is bilateral perisylvian polymicrogyria, clinically characterized by a combination of pseudobulbar palsy, spastic tetraparesis, learning difficulties and epilepsy.…”

“…Polymicrogyria is not invariably associated with epilepsy, and may present as neurological development delay, oromotor apraxia or congenital hemiparesis 36,47,48 . Several patterns of inheritance have been described.…”

Assessment of the diagnostic reliability of brain CT and MRI in pediatric epilepsy patients

“…In bilateral underdeveloped operculum, CT shows symmetrical bilateral enlarged sylvian fissures, underdevelopment of the operculum, exposed insula, with or without normally formed insular gyri (29)(30)(31). The 3 cases of bilateral underdeveloped operculum in our study showed bilateral enlarged sylvian fissures, underdeveloped operculum and exposed insula.…”

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

“…16 Four studies only included participants with a primary presenting problem of language delay 19,28,29 or diagnosis of specific language impairment, 30 now referred to as developmental language disorder. Two studies only included individuals with a diagnosis of arthrogyposis 33,34 and one with congenital hemiplegia. Three retrospective studies excluded participants with insufficient available MRI.…”