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Total 16 results found since Jan 2013.

Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance
ConclusionsApparently isolated oCSP at mid-pregnancy is a transient finding with the visualization of the fluid later in pregnancy in up to 70% of cases. At referral, associated defects can be found in around 11% of cases at ultrasound and 8% at fetal MRI indicating the need for a detailed evaluation by expert physicians when oCSP is suspected.
Source: Acta Obstetricia et Gynecologica Scandinavica - May 22, 2023 Category: OBGYN Authors: Ilaria Fantasia, Claudia Ciardo, Gabriella Bracalente, Elisa Filippi, Flora Maria Murru, Anita Spezzacatene, Maura Bin, Olivia Mendez  Quintero, Elisa Montaguti, Christoph Lees, Katherine Papanikolaou, Gianluigi Pilu, Federico Prefumo, Baska Tags: ORIGINAL RESEARCH ARTICLE Source Type: research

Progressive cerebral atrophies in three children with COL4A1 mutations
The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans.
Source: Brain and Development - July 16, 2021 Category: Neurology Authors: Yuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, Tetsuya Okazaki, Chika Hosoda, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihiro Maegaki Tags: Case Report Source Type: research

Radiological and Clinical Value of 7T MRI for Evaluating 3T-Visible Lesions in Pharmacoresistant Focal Epilepsies
This study aims at accessing the radiological and clinical value of 7T in patients with pharmacoresistant focal epilepsy and 3T-visible lesions.Methods: Patients with pharmacoresistant focal epilepsy were included if they had a lesion on pre-operative standard-of-care 3T MRI and also a 7T research MRI. An epilepsy protocol was used for the acquisition of the 7T MRI. Prospective visual analysis of 7T MRI was performed by an experienced board-certified neuroradiologist and communicated to the patient management team. The clinical significance of the additional 7T findings was assessed by intracranial EEG (ICEEG) ictal onset,...
Source: Frontiers in Neurology - March 2, 2021 Category: Neurology Source Type: research

Radiological Findings on Structural MRI in Fetal Alcohol Spectrum Disorders and Healthy Controls.
CONCLUSIONS: Although advanced quantitative MRI research has uncovered a range of differences in brain structure associated with FASD, this qualitative radiological study suggests that routine clinical MRI does not reveal a consistent pattern of brain abnormalities that can be used diagnostically in this population. PMID: 31840819 [PubMed - as supplied by publisher]
Source: Alcoholism, Clinical and Experimental Research - December 15, 2019 Category: Addiction Authors: Treit S, Jeffery D, Beaulieu C, Emery D Tags: Alcohol Clin Exp Res Source Type: research

Metabolic Changes of Brain Developmental Venous Anomalies on 18F-FDG-PET
ConclusionAltered metabolism is seen in the drainage territory of a significant proportion of DVAs, suggesting that these anomalies are vascular lesions with abnormal physiologic features.
Source: Academic Radiology - July 10, 2018 Category: Radiology Source Type: research

Septo-optic Dysplasia
ConclusionOlfactory sulcus and bulb-tract hypoplasia are fairly common in septo-optic dysplasia and can be discordant between sides. Of the other associated anomalies, anterior falx dysplasia seems to be the most common.
Source: Clinical Neuroradiology - April 16, 2018 Category: Neurology Source Type: research

A review of structural brain abnormalities in Pallister ‐Killian syndrome
ConclusionOur study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder. We report two cases of Pallister‐Killian Syndrome, and conducted a literature review to describe a diverse neuropathological basis for impaired brain function in children diagnosed with this rare disorder.
Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad ‐Rokny, Simon Williams, Helen Wright, Karen J. Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik‐Tsen Heng Tags: ORIGINAL ARTICLE Source Type: research

EP03.07: Prenatal diagnosis of 22q11.2 microdeletion: minor cardiac finding detected in mid ‐trimester scan associated with severe bilateral perisylvian polymicrogyria in late gestation
Source: Ultrasound in Obstetrics and Gynecology - September 16, 2017 Category: Radiology Authors: B. Weizman, H. Bakry, K.K. Haratz, L. Gindes, M. Tamarkin, S. Sagie, I. Shapiro, G. Cohen, L. Ben ‐Sira, D. Lev, T. Lerman‐Sagie, Z. Leibovitz Tags: Abstracts Source Type: research

Second opinion gives unborn baby second chance
Seven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed. “It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer. After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April. Jennifer felt the baby’s first kicks on Nov. 23, 2015. The next day, she was scheduled for an anatomy scan. “At f...
Source: Thrive, Children's Hospital Boston - November 29, 2016 Category: Pediatrics Authors: Lisa Fratt Tags: Our Patients’ Stories Advanced Fetal Care Center bilateral perisylvian polymicrogyria Dr. Benjamin Warf Dr. Christopher Elitt Second opinion ventriculomegaly Source Type: news

Prenatal brain MRI of fetuses with Zika virus infection
Conclusion Severe cerebral damage was observed in our series, with indirect findings suggesting that the germinal matrix is the principal target for Zika virus. The lesions are very similar to severe forms of congenital cytomegalovirus and lymphocytic choriomeningitis virus infections.
Source: Pediatric Radiology - April 17, 2016 Category: Radiology Source Type: research

Epilepsy and malformations of cortical development: new developments
Purpose of review: Malformations of cortical development (MCD) are increasingly recognized as causes of epilepsy and neurodevelopmental disorders. This review summarizes recent developments in the classification, specifically focusing on how genetic and cellular pathway advances are changing our understanding of MCD and how this applies to clinical care. Recent findings: Recent studies have shown that mutations can have variable impact on not only the pattern of MCD but also the location of cortical involvement. Regulatory G protein GPR56 mutations can selectively cause polymicrogyria in the Sylvian fissure bilaterally. In...
Source: Current Opinion in Neurology - March 5, 2015 Category: Neurology Tags: SEIZURE DISORDERS: Edited by Michael R. Sperling Source Type: research

Excitatory and inhibitory synaptic connectivity to layer V fast-spiking interneurons in the freeze lesion model of cortical microgyria
A variety of major developmental cortical malformations are closely associated with clinically intractable epilepsy. Pathophysiological aspects of one such disorder, human polymicrogyria, can be modeled by making neocortical freeze lesions (FL) in neonatal rodents, resulting in the formation of microgyri. Previous studies showed enhanced excitatory and inhibitory synaptic transmission and connectivity in cortical layer V pyramidal neurons in the paramicrogyral cortex. In young adult transgenic mice that express green fluorescent protein (GFP) specifically in parvalbumin positive fast-spiking (FS) interneurons, we used lase...
Source: Journal of Neurophysiology - October 1, 2014 Category: Neurology Authors: Jin, X., Jiang, K., Prince, D. A. Tags: Nervous System Pathophysiology Source Type: research