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https://www.readbyqxmd.com/read/28670168/value-of-repeat-brain-mri-in-children-with-focal-epilepsy-and-negative-findings-on-initial-mri
#1
Tae Yeon Jeon, Ji Hye Kim, Jeehun Lee, So-Young Yoo, Sook Min Hwang, Munhyang Lee
OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities...
July 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#2
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28629604/novel-fkrp-mutations-in-a-japanese-mdc1c-sibship-clinically-diagnosed-with-fukuyama-congenital-muscular-dystrophy
#3
Mieko Yoshioka, Kazuhiro Kobayashi, Tatsushi Toda
INTRODUCTION: Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries. PATIENTS: Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L...
June 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#4
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28601171/a-practical-approach-to-supratentorial-brain-malformations-what-radiologists-should-know
#5
REVIEW
Edward Yang, Winnie C W Chu, Edward Y Lee
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28594771/serial-head-and-brain-imaging-of-17-fetuses-with-confirmed-zika-virus-infection-in-colombia-south-america
#6
Miguel Parra-Saavedra, Jennita Reefhuis, Juan Pablo Piraquive, Suzanne M Gilboa, Martina L Badell, Cynthia A Moore, Marcela Mercado, Diana Valencia, Denise J Jamieson, Mauricio Beltran, Magda Sanz-Cortes, Ana Maria Rivera-Casas, Mayel Yepez, Guido Parra, Martha Ospina Martinez, Margaret A Honein
OBJECTIVE: To evaluate fetal ultrasound and magnetic resonance imaging findings among a series of pregnant women with confirmed Zika virus infection to evaluate the signs of congenital Zika syndrome with respect to timing of infection. METHODS: We conducted a retrospective case series of pregnant women referred to two perinatal clinics in Barranquilla and Ibagué, Colombia, who had findings consistent with congenital Zika syndrome and Zika virus infection confirmed in maternal, fetal, or neonatal samples...
July 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28577347/neuroradiographic-findings-in-22q11-2-deletion-syndrome
#7
Lauren A Bohm, Tom C Zhou, Tyler J Mingo, Sarah L Dugan, Richard J Patterson, James D Sidman, Brianne B Roby
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24)...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28553398/partial-encephalocraniocutaneous-lipomatosis-syndrome
#8
S Velusamy, S Sindhu Bharathi, B Krishnakumar
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#9
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#10
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#11
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#12
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28482731/clinical-and-radiologic-spectrum-of-septo-optic-dysplasia-review-of-17-cases
#13
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28452798/familial-craniofacial-abnormality-and-polymicrogyria-associated-with-a-microdeletion-affecting-the-nfia-gene
#14
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28444780/fetal-brain-injury-in-complicated-monochorionic-pregnancies-diagnostic-yield-of-prenatal-mri-following-surveillance-ultrasound-and-influence-on-prognostic-counselling
#15
Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen
OBJECTIVE: This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS: Women with complicated monochorionic gestations complicated by twin-twin transfusion syndrome, co-twin demise (CD), selective intrauterine growth restriction, and/or twin anaemia-polycythaemia sequence who were referred for pMRI after tertiary US were included...
April 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28424266/disease-associated-extracellular-loop-mutations-in-the-adhesion-g-protein-coupled-receptor-g1-adgrg1-gpr56-differentially-regulate-downstream-signaling
#16
Ayush Kishore, Randy A Hall
Mutations to the adhesion G protein-coupled receptor ADGRG1 (G1; also known as GPR56) underlie the neurological disorder bilateral frontoparietal polymicrogyria. Disease-associated mutations in G1 studied to date are believed to induce complete loss of receptor function through disruption of either receptor trafficking or signaling activity. Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different bilateral frontoparietal polymicrogyria-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (ΔNT) G1...
June 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28395088/neuropathological-hallmarks-of-brain-malformations-in-extreme-phenotypes-related-to-dync1h1-mutations
#17
Annie Laquerriere, Camille Maillard, Mara Cavallin, Françoise Chapon, Florent Marguet, Arnaud Molin, Sabine Sigaudy, Marie Blouet, Guillaume Benoist, Carla Fernandez, Karine Poirier, Jamel Chelly, Sophie Thomas, Nadia Bahi-Buisson
Dyneins play a critical role in a wide variety of cellular functions such as the movement of organelles and numerous aspects of mitosis, making it central player in neocortical neurogenesis and migration. Recently, cytoplasmic dynein-1, heavy chain-1 (DYNC1H1) mutations have been found to cause a wide spectrum of brain cortical malformations. We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28388629/a-tubulin-alpha-8-mouse-knockout-model-indicates-a-likely-role-in-spermatogenesis-but-not-in-brain-development
#18
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Tubulin alpha 8 (Tuba8) is the most divergent member of the highly conserved alpha tubulin family, and uniquely lacks two key post-translational modification sites. It is abundantly expressed in testis and muscle, with lower levels in the brain. We previously identified homozygous hypomorphic TUBA8 mutations in human subjects with a polymicrogyria (PMG) syndrome, suggesting its involvement in development of the cerebral cortex. We have now generated and characterized a Tuba8 knockout mouse model. Homozygous mice were confirmed to lack Tuba8 protein in the testis, but did not display PMG and appeared to be neurologically normal...
2017: PloS One
https://www.readbyqxmd.com/read/28386946/comprehensive-molecular-screening-strategy-of-ocln-in-band-like-calcification-with-simplified-gyration-and-polymicrogyria
#19
Emma M Jenkinson, John H Livingston, Mary C O'Driscoll, Isabelle Desguerre, Rima Nabbout, Nathalie Boddaert, Gabriela Soares, Miguel Gonçalves da Rocha, Stefano D'Arrigo, Gillian I Rice, Yanick J Crow
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria...
April 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#20
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
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