Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

Yekeler, Ensar; Özmen, Meral; Gençhellaç, Hakan; Dursun, Memduh; Acunaş, Gülden

doi:10.1007/s00247-004-1221-9

Cited by 5 publications

(8 citation statements)

References 12 publications

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“…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. He had restricted tongue movements, drooling of saliva, feeding and swallowing problems and lack of speech and language development.…”

Section: Discussionmentioning

confidence: 76%

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: 76%

Congenital bilateral perislyvian syndrome: Case report and review of literature

2013

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“…7 In addition, ectopic neurohypophysis was reported in 2 cases with unilateral cortical frontal dysplasia 8,9 and in 2 patients affected by bilateral perisylvian polymicrogyria. 10,11 In the case reported by Bergson and colleagues, 9 the child was affected by focal seizures, panhypopituitarism, and unilateral optic atrophy; his MRI showed ectopic posterior pituitary lobe, optic nerve and chiasm hypoplasia, bifrontal cortical dysplasia, and ectopic gray matter. According to the author, all of these features were part of septo-optic dysplasia.…”

Section: Discussionmentioning

confidence: 96%

“…31 Ectopic neurohypophysis has been rarely reported in association with other cortical malformations. [7][8][9][10] Among twenty patients with ectopic neurohypophysis and growth hormone deficiency, a periventricular heterotopia was documented in 4 cases, and in 1 of them a heterozygous mutation of homeobox gene expressed in ES cells (HESX1) was detected. 7 In addition, ectopic neurohypophysis was reported in 2 cases with unilateral cortical frontal dysplasia 8,9 and in 2 patients affected by bilateral perisylvian polymicrogyria.…”

Section: Discussionmentioning

confidence: 99%

“…5,6 Ectopic neurohypophysis, an anomaly of the pituitary gland that is part of the spectrum of septo-optic dysplasia, has been rarely reported in combination with other cortical malformations. [7][8][9][10][11] We describe, for the first time, a complex cerebral malformation consisting of bilateral perisylvian polymicrogyria, unilateral cerebellar cortical dysplasia, and ectopic neurohypophysis, documented by MRI, in a girl affected by focal epilepsy.…”

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confidence: 99%

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Bilateral Perysilvian Polymicrogyria With Cerebellar Dysplasia and Ectopic Neurohypophysis

et al. 2011

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Polymicrogyria (involving or not the sylvian scissure) with cerebellar cortical dysplasia or vermis hypoplasia has been reported in few cases. In addition, the association between ectopic neurohypophysis and other cortical malformations, including bilateral perisylvian polymicrogyria, has been documented. We describe a girl affected by focal epilepsy since the age of 2 years. Magnetic resonance imaging (MRI) at 11 and 22 years of age showed bilateral perisylvian polymicrogyria, dysplasia of the left cerebellar hemisphere, and ectopic neurohypophysis. Genetic tests, including fluorescent in situ hybridization 22q11.2 and array-comparative genomic hybridization, and pituitary hormones (at the age of 20 years) were normal. The patient is now 22 years old, and she is seizure free under therapy with lamotrigine and levetiracetam. To the best of our knowledge, this is the first description of this complex cerebral malformation. This finding confirms that bilateral perisylvian polymicrogyria can be associated with other cerebral malformations; cerebellum and neurohypophysis must be carefully evaluated in patients with polymicrogyria.

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“…[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. [13] Our patient also had an orthopedic abnormality in his right foot at birth which was thought to be clubfoot, and underwent surgery when he was 7.…”

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 with pituitary hypoplasia and ectopic neurohypophysis

Cited by 5 publications

References 12 publications

Congenital bilateral perislyvian syndrome: Case report and review of literature

Congenital bilateral perislyvian syndrome: Case report and review of literature

Bilateral Perysilvian Polymicrogyria With Cerebellar Dysplasia and Ectopic Neurohypophysis

Congenital Bilateral Perisylvian Syndrome: A Case Report

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