Bilateral generalized polymicrogyria (BGP)

Chang, Bernard S.; Piao, Xiangshu; Giannini, C; Cascino, G. D.; Scheffer, Ingrid E.; Woods, C. Geoffrey; Topçu, Meral; Tezcan, Kamer; Bodell, Adria; Leventer, Richard J.; Barkovich, A. James; Grant, P. Ellen; Walsh, Christopher A.

doi:10.1212/01.wnl.0000125187.52952.e9

Cited by 58 publications

(45 citation statements)

References 17 publications

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“…These severe abnormalities were invariably associated with a poor neurodevelopmental outcome and/or the development of SNHL. Bilateral generalized polymicrogyria has been related to cognitive and motor delay and epilepsy [24]. Without screening for primary cCMV infection during pregnancy, it is often unknown when the infection occurred.…”

Section: Discussionmentioning

confidence: 99%

Neuro-Imaging Findings in Infants with Congenital Cytomegalovirus Infection: Relation to Trimester of Infection

et al. 2015

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Background: Congenital cytomegalovirus (cCMV) infection early in pregnancy may result in major disabilities. Cerebral abnormalities detected using cranial ultrasound (cUS) and magnetic resonance imaging (MRI) have been related to neurological sequelae. Objective: To evaluate the additional value of MRI and assess the relationship between time of infection during pregnancy and outcome in infants with cCMV infection. Methods and Study Design: Demographic and clinical data were collected in infants with cCMV infection (1992-2013). Trimester of infection, neuro-imaging results and outcome were reviewed. Cerebral abnormalities were categorized into none, mild (lenticulostriate vasculopathy, germinolytic cysts, high signal intensity on T2-weighted images) and severe (migrational disorder, ventriculomegaly, cerebellar hypoplasia). Results were statistically analysed. Results: Thirty-six infants were eligible for analysis. cUS was performed in all and cranial MRI in 20 infants. Migrational disorders were only diagnosed using MRI (p < 0.01). In 17 infants trimester of infection was ascertained. Seven out of 10 infants infected during the first trimester had severe abnormalities on cUS (5 confirmed on MRI) and adverse sequelae; 3 had no/mild abnormalities on cUS/MRI and normal outcome. Two out of 3 infants infected during the second trimester with no/mild abnormalities on cUS/MRI had normal outcome; 1 with mild cUS and MRI abnormalities developed sensorineural hearing loss. Four infants infected during the third trimester with no/mild abnormalities on cUS/MRI had normal outcome. Conclusion: Infants with a first trimester cCMV infection are most at risk of severe cerebral abnormalities and neurological sequelae. MRI, and not cUS, enables an early diagnosis of migrational disorders, which can improve prediction of outcome.

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Section: Discussionmentioning

confidence: 99%

Neuro-Imaging Findings in Infants with Congenital Cytomegalovirus Infection: Relation to Trimester of Infection

et al. 2015

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“…Several distinct patterns of bilateral polymicrogyria have been described, including frontal, 25 frontoparietal, [26][27][28] perisylvian, 29 lateral parietal, 30 parasagittal parieto-occipital, 31 and generalised polymicrogyria. 32 Unilateral polymicrogyria has also been reported. 33 34 The underlying mechanisms for this regional distribution of polymicrogyria require further clarification.…”

Section: Clinical and Imaging Features Of Polymicrogyriamentioning

confidence: 98%

“…Pathology findings in one case showed an abnormally thin cerebral cortex with excessively folded and fused gyri and an absence of the usual six layered architecture. 32 BGP patients mostly have a variable degree of cognitive and motor delay, spastic hemiparesis or quadriparesis, and seizures. In the series reported by Chang et al, 32 seizures were present in 10 of 12 patients and varied in age at onset, type, and severity.…”

Section: Bilateral Parasagittal Parieto-occipital Polymicrogyria (Bpop)mentioning

confidence: 99%

“…32 BGP patients mostly have a variable degree of cognitive and motor delay, spastic hemiparesis or quadriparesis, and seizures. In the series reported by Chang et al, 32 seizures were present in 10 of 12 patients and varied in age at onset, type, and severity. Most patients had associated congenital abnormalities such as macrocephaly, scalp and limb defects, low set ears, macrostomia, hypothyroidism, and sensorineural hearing loss.…”

Section: Bilateral Parasagittal Parieto-occipital Polymicrogyria (Bpop)mentioning

confidence: 99%

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Genetics of the polymicrogyria syndromes

Jansen

Andermann²

2005

Journal of Medical Genetics

146

130

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“…Different imaging patterns have been described including bilateral frontal, frontoparietal, perisylvian, lateral parietal, parasagittal parietooccipital, and generalized, as well as unilateral PMG. 2,[5][6][7][8][9][10][11] Although histology is regarded as the diagnostic criterion standard, post-mortem pathology is rarely obtained. The descriptions in the neuropathological literature are based on patients who died or required surgery for intractable epilepsy and likely represent the most severe end of the spectrum.…”

mentioning

confidence: 99%

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Jansen

Robitaille

Honavar

et al. 2015

Develop Med Child Neuro

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PMG PolymicrogyriaAIM Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases.METHOD We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or diffusely replaced by one or more festooning bands of neurons. RESULTSThe pial surface of the brain overlying the polymicrogyric cortex was abnormal in almost 90% of cases irrespective of the aetiology. This accords with animal studies indicating the importance of the leptomeninges in cortical development. The aetiology of PMG was highly heterogeneous and there was no correlation between cortical layering patterns and aetiology. PMG was almost always associated with other brain malformations. INTERPRETATIONThe inclusion of many fetal cases has allowed us to examine the early developmental stages of PMG. The study indicates the significance of surface signals responsible for human corticogenesis and the complex interaction between genetic and environmental factors leading to this common endpoint of cortical maldevelopment.Polymicrogyria (PMG) is a common and highly heterogeneous malformation of cortical development with variable clinical phenotype, imaging, and histology. 1-3 PMG may cause a variety of symptoms including seizures, developmental delay, motor problems, isolated language delay, feeding problems, microcephaly, and multiple congenital anomalies, all to a variable degree of severity. It usually occurs in association with other brain malformations and/or multiple congenital anomalies or intellectual disability. 1 During life, diagnosis of PMG is based on neuroimaging. The magnetic resonance imaging (MRI) features of PMG consist of an irregular and bumpy appearance of the cortex, with apparent cortical thickening, and a stippled grey-white matter junction.2,4 PMG can be focal or diffuse, unilateral or bilateral. Different imaging patterns have been described including bilateral frontal, frontoparietal, perisylvian, lateral parietal, parasagittal parietooccipital, and generalized, as well as unilateral PMG. 2,[5][6][7][8][9][10][11] Although histology is regarded as the diagnostic criterion standard, post-mortem pathology is rarely obtained. The descriptions in the neuropathological literature are based on patients who died or required surgery for intractable epilepsy and likely represent the most severe end of the spectrum. Detailed examination of fetal brains reveal the cortical malformation in the early developmental stages.The architectonic features of PMG were first described by Bielschowsky in 1915 12 and since by others. [13][14][15][16][17][18] Diagnostic criteria for PMG as defined by Friede in 1989 include abnormal arrangement of cell layers, an intracortical fibre plexus, extensive folding of all layers or of the upper layers only, and fusion of gyral surfaces. 16 Norma...

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Bilateral generalized polymicrogyria (BGP)

Abstract: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.

Cited by 58 publications

References 17 publications

Neuro-Imaging Findings in Infants with Congenital Cytomegalovirus Infection: Relation to Trimester of Infection

Neuro-Imaging Findings in Infants with Congenital Cytomegalovirus Infection: Relation to Trimester of Infection

Genetics of the polymicrogyria syndromes

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

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