Monozygous twin with polymicrogyria and normal co-twin

Sugama, Seiichi; Kusano, Kaoru

doi:10.1016/0887-8994(94)90094-9

Cited by 40 publications

(24 citation statements)

References 8 publications

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“…In one reported case of twin-twin transfusion syndrome, the donor exhibited normal psychomotor development, whereas the recipient showed psychomotor delay associated with polymicrogyria [14]. In the present case, an instable blood circulation in combination with multiple thromboembolic events during pregnancy might explain the pattern of polymicrogyria.…”

Section: Discussionmentioning

confidence: 54%

Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria

Mittelbronn¹,

Beschorner²,

Schittenhelm³

et al. 2006

Human Pathology

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Section: Discussionmentioning

confidence: 54%

Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria

Mittelbronn¹,

Beschorner²,

Schittenhelm³

et al. 2006

Human Pathology

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“…Forty-two patients from 12 A standard protocol was employed to study the probands and their families to delineate the pedigrees and gather information related to pregnancy, delivery, developmental milestones, and neurological abnormalities. We collected data on age at seizure onset, seizure type and frequency, response to treatment, and course of the epilepsy.…”

Section: Methodsmentioning

confidence: 99%

Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

et al. 2000

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Two familial X‐linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X‐linked transmission. On the other hand, the pedigrees of 2 families ruled out X‐linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X‐linked syndrome of cortical maldevelopment. Ann Neurol 2000;48:39–48

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“…18 The association of extrinsic factors such as intrauterine cytomegalovirus infection, fetal cerebral ischemia due to placental perfusion failure, twin-to-twin transfusion syndrome, loss of a twin in utero, or maternal drug ingestion has been well documented in PMG. [19][20][21][22][23] Reports of PMG in association with malformation syndromes, 24,25 chromosomal abnormalities, 26,27 and the identification of mutations in genes (e.g. tubulin genes, RTTN, OCLN, KIF5C, KBP and LAMC3) [28][29][30][31][32][33][34][35][36][37] in patients with PMG, has resulted in an increased acknowledgement of the role of genetic factors in its pathogenesis.…”

Section: Discussionmentioning

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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Monozygous twin with polymicrogyria and normal co-twin

Cited by 40 publications

References 8 publications

Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria

Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria

Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

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

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