Parabiotic twin syndrome with topical isocortical disruption and gastroschisis

Barth, P. G.; Harten, J.J. van der

doi:10.1007/bf00687825

Cited by 56 publications

(32 citation statements)

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“…Abnormal leptomeninges are seen overlying human PMG [22], and leptomeningeal thickening with vascular proliferation, pial defects and over-migration, are seen in over 80% of cases of PMG, both of genetic and destructive origin [Jansen A, Robitaille Y, Honavar M, Mullatti N, Leventer RJ, Andermann E, Andermann F, Squier W (forthcoming) The histopathology of polymicrogyria: a series of 71 brain autopsy studies] (Figure 3). It remains to be clarified whether leptomeningeal pathology participates in the genesis of PMG or represents a secondary change.…”

Section: Introductionmentioning

confidence: 99%

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Polymicrogyria: pathology, fetal origins and mechanisms

Squier

Jansen

2014

acta neuropathol commun

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Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the literature on PMG and the mechanisms of its development, as derived from the neuropathological study of many cases of human PMG, a large proportion in fetal life. This reveals the several processes which appear to be involved in the early stages of formation of polymicrogyric cortex. The most consistent feature of developing PMG is disruption of the brain surface with pial defects, over-migration of cells, thickening and reduplication of the pial collagen layers and increased leptomeningeal vascularity. Evidence from animal models is consistent with our observations and supports the notion that disturbance in the formation of the leptomeninges or loss of their normal signalling functions are potent contributors to cortical malformation. Other mechanisms which may lead to PMG include premature folding of the neuronal band, abnormal fusion of adjacent gyri and laminar necrosis of the developing cortex. The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex, suggests mechanistic pathways for some forms of PMG. The role of altered physical properties of the thickened leptomeninges in exerting mechanical constraints on the developing cortex is also considered.Electronic supplementary materialThe online version of this article (doi:10.1186/s40478-014-0080-3) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

“…PMG associated with ischaemic damage is usually identified on the border of areas of infarction but may also occur either within arterial territories or quite distant from areas of frank infarction [9,22,64]. Rarely in human cases is there precise timing of an ischaemic event leading to cortical malformation.…”

Section: Introductionmentioning

confidence: 99%

Polymicrogyria: pathology, fetal origins and mechanisms

Squier

Jansen

2014

acta neuropathol commun

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“…11 A rare autosomal recessive form is caused by mutations in the ARFGEF2 gene 12 and is characterized by microcephaly and delayed myelination in addition to PNH. Indeed, PNH are found in many syndromes; associations with several single-gene disorders, chromosomal anomalies 2 and some presumably disruptive causes 13,14 have been published. This heterogeneity suggests that genetic and nongenetic processes may cause PNH.…”

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confidence: 99%

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

González

Vedolin

Barry

et al. 2012

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE Periventricular nodular heterotopia are common malformations of cortical development that are associated with many clinical syndromes and with many different neuroimaging phenotypes. The purpose of this study was to determine whether specific malformation phenotypes may be related to location, side, or number of PNH as assessed by MR imaging. MATERIALS AND METHODS MR images of 200 patients previously diagnosed with PNH were retrospectively analyzed. PNH were classified according to their location along the ventricles (anterior, posterior, or diffuse), side (unilateral or bilateral), and number of nodules (<5, 6–10, or >10). The cerebrum, brain stem and cerebellum were analyzed to assess associated anomalies. Associations between PNH location and the presence of other anomalies were tested by using Fisher exact test and χ2 test. RESULTS Posterior PNH were significantly associated with malformations of the cerebral cortex, diminished white matter volume, and mid-/hindbrain anomalies. Diffuse PNH were associated with diminished white matter volume, callosal “anomalies,” and the presence of megacisterna magna. Unilateral PNH were strongly associated with cortical malformations. CONCLUSIONS Certain malformation complexes are associated with PNH in specific locations: posterior PNH with cerebral cortical and mid-/hindbrain malformations and diffuse PNH with callosal anomalies and megacisterna magna. Knowledge of these associations should allow more directed analyses of brain MR imaging in patients with PNH. In addition, knowledge of these associations may help to direct studies to elucidate the causes of these malformation complexes.

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“…Acquired causes of PMG comprise intrauterine cytomegaly virus infection (Marques Dias et al, 1984;Hayward et al, 1991;Barkovich and Lindan, 1994), vascular disruption during the period of neuronal migration (Norman, 1980;Barth and van der Harten, 1985;Barkovich et al, 1995;Iannetti et al, 1998;Curry et al, 2005), and maternal drug ingestion (Barkovich et al, 1995).…”

Section: Discussionmentioning

confidence: 98%