Porencephaly, Hydranencephaly, Multicystic Encephalopathy

Friede, Reinhard L.

doi:10.1007/978-3-642-73697-1_3

Cited by 13 publications

(5 citation statements)

References 65 publications

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“…Conversely, porencephaly is understood to be a postmigration accident resulting in lesions, without gray matter lining the clefts or an associated malformation of cortical development. It has been suggested that both schizencephaly and porencephaly are caused by encephaloclastic regions, and can be distinguished depending on time of insult 16, 17. The present study clearly demonstrated that COL4A1 mutations caused both porencephaly and schizencephaly, supporting the same pathological mechanism for these 2 conditions.…”

Section: Discussionsupporting

confidence: 79%

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Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis

2013

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Section: Discussionsupporting

confidence: 79%

“…In this study, we screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult 2–4, 16, 17…”

mentioning

confidence: 99%

Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis

2013

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“…[1][2][3] Conversely, porencephaly, which is characterized by cystic changes in the cerebral parenchyma, results from destructive changes occurring after the completion of neuronal migration; thus, the cyst walls and clefts are not lined with gray matter. 3,4 In both disorders, postnatal clinical symptoms may include various degrees of cerebral palsy, mental retardation, and epilepsy. The clinical symptoms of schizencephaly depend on the size of the clefts.…”

mentioning

confidence: 99%

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases

et al. 2017

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Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls, suggestive of hemosiderosis secondary to intracranial hemorrhage. Case 2: Prenatal MRI showed bilateral cleft and cyst formation in the fetal cerebrum, as well as calcification and hemosiderosis indicative of past hemorrhage. T2-weighted images showed hypointensities in the same regions as the calcification, corresponding with hemosiderosis due to intracranial hemorrhage on postnatal day 10. Thus, prenatal MRI was useful for diagnosing schizencephaly and porencephaly. Schizencephaly and porencephaly were thought to be due to fetal intracranial hemorrhage, which, in the porencephaly case, may have been related to a mutation of COL4A1.

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“…The aspect of sylvian fissures could be related to a failure of opercularization secondary to disorders of neuroblast migration rather than to the encephaloclastic lesions usually considered to be generating the schizencephalic clefts. 19,26,28, 29 Causes of agria-pachypia. Agyria-pachygyria, in Dobyn's classification, constitutes the lissencephaly type I group that includes Miller-Dieker syndrome, Norman-Roberts syndrome, and the isolated lissencephaly sequence.8JO A deletion involving a critical 300-kb region located in the 17~13.3 site is the only demonstrated cause of agyria-pa~hygyria.~~ Former studies32 detected 1 7~1 3 .…”

Section: Resultsmentioning

confidence: 99%

Extensive macrogyri or no visible gyri

Sébire¹,

Goutières²,

Tardieu³

et al. 1995

Neurology

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We studied 43 children with extensive brain gyral anomalies diagnosed radiologically and defined by (a) the absence or paucity of sulci over cortical areas affecting at least two lobes in each hemisphere, and (b) the absence or reduction of interdigitation between gray and white matter. We correlated the clinical, EEG, and genetic findings with the imaging features. A seemingly homogeneous group of patients (group A, n = 30) presented a common imaging pattern characterized by four features: (1) a thickened neocortex, (2) widened lateral ventricles, (3) apparent verticalization and widening of sylvian fissures, and (4) bilateral and symmetric distribution of the abnormalities. Another group of patients (group B, n = 13) exhibited heterogeneous imaging anomalies, termed "nonlissencephalic brain malformation," differing in at least one of the following four ways from the radiologic criteria defining group A: absence of verticalization of sylvian fissures (n = 12), thin neocortex (n = 2), normal-size lateral ventricles (n = 2), and asymmetric brain defects (n = 3). In group A, some clinical features had a significantly lower frequency (p < or = 0.01) than in group B: microcephaly, a complete lack of postural development, and intractable epilepsy. There was a significant relationship, but only in group A, between the degree of gyral anomalies and the extent of neurodevelopmental delay. Some EEG patterns (rapid rhythms and delta-theta rhythms) were highly specific for the group A patients. There was lower risk of familial recurrence in group A (recurrence of convolutional anomalies was 3.5% of sibship in group A versus 44% of sibship in group B, p = 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

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Porencephaly, Hydranencephaly, Multicystic Encephalopathy

Cited by 13 publications

References 65 publications

Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis

Efficacy of a topical sesame/rose geranium oil compound in patients with hereditary hemorrhagic telangiectasia associated epistaxis

Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases

Extensive macrogyri or no visible gyri

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