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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Porencephaly or porencephalic cyst is defined as fluid-filled spaces replacing normal brain parenchyma and may or may not communicate with the lateral ventricles or subarachnoid space. The causes may be ischemic episode, trauma (64), demise of one twin, Intracerebral hemorrhage, and infection of cytomegalovirus (65). Some cases in utero have been reported (66,67). Porencephalic cyst never causes a mass effect, which is observed in cases with arachnoid cyst or other cystic mass lesions. This condition is acquired brain insult and differentiated from schizencephaly of migration disorder.
Neuroanatomical and Neurobehavioral Effects of Heavy Prenatal Alcohol Exposure
Published in John Brick, Handbook of the Medical Consequences of Alcohol and Drug Abuse, 2012
Porencephaly and hydrocephaly have also been reported (Clarren et al., 1978; Peiffer et al., 1979). Hydrocephaly is characterized by an overabundance of cerebrospinal fluid (CSF), which results in enlargement of the ventricles. Enlargement of the ventricles causes the cerebral gray matter to be displaced and compressed, ultimately resulting in neuronal damage if the pressure is not released. In contrast, porencephaly is characterized by one or more fluid-filled cysts in the cerebral cortex, which are typically caused by a brain hemorrhage, trauma, or partial to complete occlusion of blood vessels.
Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation
Published in Neuro-Ophthalmology, 2022
Kasim Qureshi, Muhammad U. Farooq, Avneet Deol, Christopher Glisson, Philip B. Gorelick
Non-arteritic anterior ischaemic optic neuropathy (NAION) is the second most common optic neuropathy after glaucoma and is characterised by sudden painless vision loss due to compromised perfusion of the optic nerve head via various vascular mechanisms. When one eye is affected, there is a risk of contralateral involvement. Up to 15% of patients develop NAION in the fellow eye 5 years after the initial diagnosis.1 In addition to showing a predisposition in white Caucasians, men, and those over the age of 50,2 NAION has several known genetic associations including GP1ab polymorphisms, and familial mitochondrial mutations.3–6 We report a case of sequential bilateral NAION in a man who was subsequently found to have a COL4A2 mutation, the gene encoding for the collagen alpha-2 chain, one of the six subunits of type IV collagen. Type IV collagen is a major structural component of human basement membranes including those of the cerebral vasculature. Familial mutations may be associated with porencephaly, childhood cerebral haemorrhage, leukoaraiosis, sporadic adult intracerebral haemorrhage, and other manifestations.7
Porencephalic cyst: a rare cause of new-onset seizure in an adult
Published in Journal of Community Hospital Internal Medicine Perspectives, 2018
Anam Qureshi, Asad Jehangir, Eugene P. York
On EEG of patients with porencephalic cysts, the background may be normal, or show slowing which may be focal or generalized [4]. A characteristic feature on EEG of patients with porencephalic cyst is the presence of focal, rhythmic epileptiform discharges that spatially correlate with the cyst and its margins [4]. Patients with extensive porencephaly may have bilateral synchronous paroxysms [5]. The diagnosis porencephalic cyst is confirmed on imaging; CT head reveals hypodense intracranial cyst with a well-defined border, while MRI brain shows a cyst lined by white matter, containing CSF with low signal intensity on T1/FLAIR, high signal intensity on T2, and no restricted diffusion on MRI [6]. Patients presenting with seizures are generally managed with antiepileptics, and surgery is reserved for refractory cases [6].
Measurement of Fetal Mesencephalon and Pons Via Ultrasonographic Cross Sectional Imagining
Published in Fetal and Pediatric Pathology, 2018
Ruiqi Yang, Rui Li, Xuejuan Liu, Limei Fan, Jialing Zhang, Libo Wang, Hong Teng
Spina bifida results from the failure to close the caudal region of the neural tube early in embryogenesis. Its prevalence at birth is 0.23–4.13/1000 (19,20). With the spina bifida, three cases showed abnormalities. One case was accompanied with porencephaly, showing a decrease in the mesencephalon and pons diameters (Figure 10). In the fetuses with spina bifida, there is a pulling force for mesencephalon and pons toward spina bifida since they are located in the lower half of the brainstem. The force may make the diameters of mesencephalon and pons become smaller. The ultrasonographic features of fetal intracranial hemorrhage change in an orderly fashion and can be divided into four phases: a fresh hemorrhagic phase, a liquefying phase, a complete liquefaction phase, and a complete resolution phase (21). The fetus in our study that presented intracranial hemorrhage showed hyperechoic replacement of intracranial structure, which had already invaded the mesencephalon and could be observed on the cross-mesencephalon-sectional image (Figure 11).