Congenital Bilateral Perisylvian Syndrome Associated With Congenital Constriction Band Syndrome

Yamanouchi, Hideo; Ota, Takako; Imataka, George; Hagiwara, Yuri; Nakagawa, Eiji; Eguchi, Mitsuoki

doi:10.1177/088307380201700610

Cited by 16 publications

(12 citation statements)

References 8 publications

(1 reference statement)

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“…Familial, autosomal and X-linked inheritance has been reported. CBPS has been associated with the chromosomal abnormalities and malformations such as arthrogryposis,[1] clubfeet,[1] micrognathia,[1] polydactyly, constriction band syndrome[2] and pituitary hypoplasia. [3] Our case had hypotonia with no pyramidal signs.…”

Section: Discussionmentioning

confidence: 99%

Congenital bilateral perislyvian syndrome: Case report and review of literature

2013

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Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS.

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Section: Discussionmentioning

confidence: 99%

Congenital bilateral perislyvian syndrome: Case report and review of literature

2013

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“…Embryonic vascular factors have been implicated in perisylvian PMG with or without limb anomalies in 22q11 microdeletion syndrome [Robin et al, 2006]. Congenital constriction bands with limb deficiencies or AOS are associated with bilateral perisylvian PMG, septo‐optic dysplasia and periventricular leukomalacia [Amor et al, 2000; Yamanouchi et al, 2002; Stevens and Dobyns, 2004; Papadopoulou et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

Wit

Coo

Schot

et al. 2010

American J of Med Genetics Pt A

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Malformations of cerebral cortical development, in particular periventricular nodular heterotopia (PNH), and distal transverse limb deficiency have been reported as associated congenital anomalies. Patients with PNH and transverse limb deficiency can be classified as having amniotic band sequence or Adams-Oliver syndrome (AOS). Controversy exists whether these should be considered separate entities. In some AOS patients, autosomal recessive inheritance has been shown, but in most patients causes are unknown, and both environmental and genetic factors have been implicated. We present three patients with PNH and distal transverse limb deficiency to support the hypothesis that these should be considered part of one group of disorders, and highlight the variable severity of the clinical and neuroradiological phenotype. Chromosome abnormalities were excluded by copy number analysis on 250K SNP microarray data.Research done on limb deficiency as on PNH caused by mutations in known genes, suggests the involvement of vascular developmental pathways. The combination of limb deficiency and PNH may have a common causative mechanism. Recognition and grouping of patients with this combination of abnormalities will help elucidating the cause.

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“…The postulated mechanisms include cerebral hypoxia/ischemia, injury during neuronal migration and gene mutation, however the exact cause of this syndrome or the timing of the development of the malformation remains unknown. [1][2][3][4] Although the majority of cases of CBPS appear to be sporadic, reports of cases including twins and siblings suggest a genetic predisposition. However, different modes of inheritance including X-linked, autosomal dominant and autosomal recessive from different families have been reported and the mode of transmission remains unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Barkovich et al reported that patients with bilateral frontal polymicrogyria had more severe motor delay than speech delay, mild mental retardation and lower frequency of seizures, whereas patients with perisylvian polymicrogyria presented more frequently with speech dysfunction. [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.…”

Section: Discussionmentioning

confidence: 99%

Congenital Bilateral Perisylvian Syndrome: A Case Report

Gazioğlu¹,

Çakmak²,

Eyüboğlu³

et al. 2014

Epilepsi

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ÖzetKonjenital bilateral perisilviyan sendrom (KBPS) epilepsi, psödobulber paralizi, kognitif hasar ve beyin görüntülemesinde iki taraflı perisilviyan anormalliklerle karakterize bir nöronal migrasyon bozukluğudur. Bu yazıda tedaviye dirençli nöbetler ve düşme atakları ile başvuran ve detaylı öykü, nörolojik muayene ve manyetik rezonans görüntüleme (MRG) bulguları ile KBPS tanısı almış 44 yaşında bir erkek olgu sunuldu. On üç yaşından beri nöbet şikayeti olan hastanın antiepileptik tedaviye rağmen ayda bir olan jeneralize tonik klonik nöbetleri ve her gün olan tonik/atonik düşme atakları mevcuttu. Nörolojik muayenesinde sağ tarafta daha belirgin olan piramidal bulgular, psödobulber paralizi ve hafif kognitif bozulma mevcuttu. İnteriktal elektroensefalografisinde iki taraflı frontotemporal keskin yavaş dalga deşarları mevcuttu. MRG'sinde iki taraflı perisilviyan local kortikal kalınlaşma ve polimikrogri mevcuttu. Tedaviye dirençli nöbetleri olan hastalar mutlaka spesifik bir sendrom olasılığı açısından beyin görüntülemesini de içeren detaylı bir inceleme yapılarak değerlendirilmelidir. Tedaviye dirençli nöbetler, psödobulber bulgular ve mental retardasyon KBPS tanısını destekler. Beyin MRG incelemesi bu sendromun tanısında önemli role sahiptir.Anahtar sözcükler: Doğuştan iki taraflı perisilviyan sendrom; düşme atağı; epilepsy; polimikrogri. SummaryCongenital bilateral perisylvian syndrome (CBPS) is a congenital neuronal migration disorder characterized by epilepsy, pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities at brain imaging. We report a case of a 44-year-old male admitted with refractory seizures and drop attacks and diagnosed with CBPS after detailed history, neurological examination and magnetic resonance imaging (MRI) findings. The patient had been suffering from seizures since the age of 13. He had generalized tonic-clonic seizures once a month and tonic/ atonic drop attacks repeating daily in spite of antiepileptic drug therapy. Neurological examination showed pyramidal signs, predominantly on the right side, pseudobulbar paresis and mild cognitive impairment. Interictal electroencephalogram (EEG) revealed bilateral frontotemporal sharp-slow wave discharges. MRI revealed bilateral perisylvian local cortical thickening and polymicrogyria. Patients with refractory seizures should undergo detailed investigation, including brain imaging for the possibility of having a specific syndrome. Intractable seizures, pseudobulbar signs and mental retardation suggest the diagnosis of CBPS. Brain MRI plays an important role in the diagnosis of this syndrome.Epileptic seizures are present in the majority of cases with CBPS, with a broad spectrum of seizure types, including generalized tonic-clonic (GTC), typical and atypical absences, atonic and tonic seizures or drop attacks. [1,2] CASE REPORT / OLGU SUNUMU

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Congenital Bilateral Perisylvian Syndrome Associated With Congenital Constriction Band Syndrome

Cited by 16 publications

References 8 publications

Congenital bilateral perislyvian syndrome: Case report and review of literature

Congenital bilateral perislyvian syndrome: Case report and review of literature

Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

Congenital Bilateral Perisylvian Syndrome: A Case Report

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