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Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Dimitra Kappou, Chrysanthi Chlapoutaki, Ioannis Papastefanou, Georgia Theodorou, Dimitrios Kassanos, Athena P Souka
No abstract text is available yet for this article.
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Rachel Straussberg
Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis)...
October 2016: Neurogenetics
Asthik Biswas, Farha Furruqh, Suresh Thirunavukarasu, Ravichandran Vivekandan
Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
Deepak Menon, Sweta Swaika, Ramsekhar Menon, Bejoy Thomas, Ashalatha Radhakrishnan
No abstract text is available yet for this article.
September 2016: Neurology India
Sureyya Burcu Görkem, Selim Doganay, Kazim Gumus, Ayse Bayram, Sefer Kumandas, Abdulhakim Coskun
The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm(2)) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.3 years) with isolated unilateral polymicrogyria and age-sex matched 10 control patients were assessed retrospectively. There was a significant increase in apparent diffusion coefficient values of white matter underlying polymicrogyria, uninvolved white matter, deep gray matter (thalami, lentiform nuclei, caudate nuclei) and corpus callosum in polymicrogyria patients compared to control group (P < ...
September 12, 2016: Journal of Child Neurology
Yuri Nagai, Ayataka Fujimoto, Tohru Okanishi, Hironao Motoi, Sotaro Kanai, Takuya Yokota, Hideo Enoki, Mitsuyo Nishimura, Takamichi Yamamoto
PURPOSE: To perform an epilepsy surgery on a patient with drug resistant epilepsy secondary to bilateral brain malformation. The patient was a 2-year 9-month-old boy who had congenital bilateral multiple abnormalities. He developed a complex partial seizure at 9 months old. Based on the presurgical evaluations, he underwent a right hemispherotomy. RESULTS: Brain MRI revealed congenital bilateral polymicrogyria, right schizencephaly, and corpus callosum agenesis...
2016: Epilepsy & Behavior Case Reports
Phedias Diamandis, David Chitayat, Ants Toi, S Blaser, Patrick Shannon
OBJECTIVE: To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus. METHODS: We identified and reviewed the clinical histories and autopsy pathology of post ischemic fetal cerebral cortical injury at less than 30weeks gestational age (GA). The histology of local cortical abnormalities was examined with neuronal, glial, microglial and vascular immunohistochemical markers. RESULTS: We identified eight cases ranging from 18 to 29weeks GA: 5 cases show full thickness cortical infarcts and 3 show periSylvian post-ischemic necrosis of the cerebral cortex...
July 9, 2016: Brain & Development
Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, Takao Komatsubara, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Jun Tohyama
Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a predominance in the temporal to occipital regions...
July 2, 2016: Brain & Development
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H Lequin, Johan M Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W W Brouwer, Wilfred F J Van IJcken, Marta Martin-Fernandez, Irenaeus de Coo, Jeroen Dudink, Femke A T de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J Crow, Frans W Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M S Mancini
Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families...
June 27, 2016: Journal of Experimental Medicine
Teresa Chapman, Francisco A Perez, Gisele E Ishak, Dan Doherty
Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings...
September 2016: American Journal of Medical Genetics. Part A
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A Hsu, Wolfram S Kunz, Miriam H Meisler, Rafal Ploski
In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden onset of a progressive neurological disorder and regression of developmental milestones. Both children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibited striatal abnormalities on MRI...
July 7, 2016: American Journal of Human Genetics
Ashlee R Loughan, Murphy Harrell, Robert Perna, Aislyn Allen, Brian Suddarth
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing...
May 23, 2016: Applied Neuropsychology. Child
Guja Astrea, Ilaria Pezzini, Ester Picillo, Rosa Pasquariello, Francesca Moro, Manuela Ergoli, Paola D'Ambrosio, Adele D'Amico, Luisa Politano, Filippo Maria Santorelli
The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement...
July 2016: Neuromuscular Disorders: NMD
Gin-Wen Chang, Cheng-Chih Hsiao, Yen-Ming Peng, Felipe A Vieira Braga, Natasja A M Kragten, Ester B M Remmerswaal, Martijn D B van de Garde, Rachel Straussberg, Gabriele M König, Evi Kostenis, Vera Knäuper, Linde Meyaard, René A W van Lier, Klaas P J M van Gisbergen, Hsi-Hsien Lin, Jörg Hamann
Natural killer (NK) cells possess potent cytotoxic mechanisms that need to be tightly controlled. Here, we explored the regulation and function of GPR56/ADGRG1, an adhesion G protein-coupled receptor implicated in developmental processes and expressed distinctively in mature NK cells. Expression of GPR56 was triggered by Hobit (a homolog of Blimp-1 in T cells) and declined upon cell activation. Through studying NK cells from polymicrogyria patients with disease-causing mutations in ADGRG1, encoding GPR56, and NK-92 cells ectopically expressing the receptor, we found that GPR56 negatively regulates immediate effector functions, including production of inflammatory cytokines and cytolytic proteins, degranulation, and target cell killing...
May 24, 2016: Cell Reports
Richard A Prayson
Hyaline protoplasmic astrocytopathy is a rare disorder marked by an accumulation of protein material in the cytoplasm of astrocytic cells, mostly in the cortex. The finding has been described in Aicardi syndrome (agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms) as well as in patients with pharmacoresistant epilepsy and in association with focal cortical dysplasia, polymicrogyria and nodular heterotopia. This report describes the first case of this entity described in a patient with tuberous sclerosis...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Iulian Raus, Adela Mihaela Vintan, Roxana Elena Coroiu
Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and developmental delay who presented to the pediatric neurology room with an episode of disinhibited behavior in family environment...
2016: Clujul Medical (1957)
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