367 results match your criteria Schizencephaly Imaging

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.

Front Genet 2021 19;12:530028. Epub 2021 Mar 19.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia.

Introduction: Flaviviridae family belongs to the Spondweni serocomplex, which is mainly transmitted by vectors from the genus. Zika virus (ZIKV) is part of this genus. It was initially reported in Brazil in December 2014 as an unknown acute generalized exanthematous disease and was subsequently identified as ZIKV infection. Read More

View Article and Full-Text PDF

Porencephaly causing limb size asymmetry.

Acta Neurol Belg 2021 Mar 16. Epub 2021 Mar 16.

Department of Gastroenterology, Kagawa University Faculty of Medicine, 1750-1 Ikenobe, Miki-Cho, Kita-Gun, Kagawa, 761-0793, Japan.

View Article and Full-Text PDF

Brain and Placental Pathology in Fetal COL4A1 Related Disease.

Pediatr Dev Pathol 2021 May-Jun;24(3):175-186. Epub 2021 Jan 21.

Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Introduction: Although fetal brain injury due to gene mutation is well documented, fetal central nervous system (CNS) and placental histopathology lack description. We report CNS and placental pathology in fetal cases with symptomatic mutation.

Methods: We retrieved four autopsy cases of COL4A1 related disease, confirmed by genetic sequencing after fetal brain injury was detected. Read More

View Article and Full-Text PDF
January 2021

The spectrum of brain malformations and disruptions in twins.

Am J Med Genet A 2020 Nov 18. Epub 2020 Nov 18.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). Read More

View Article and Full-Text PDF
November 2020

Absent Cavum Septi Pellucidi.

Am J Obstet Gynecol 2020 12 7;223(6):B23-B26. Epub 2020 Nov 7.

View Article and Full-Text PDF
December 2020

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

Pediatr Radiol 2021 03 15;51(3):480-484. Epub 2020 Oct 15.

Department of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ, 85016, USA.

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally. Read More

View Article and Full-Text PDF

Dissociative Language Representation in a Patient with Schizencephaly.

Eur Neurol 2020 8;83(5):534-535. Epub 2020 Oct 8.

Department of Neurology, University of Ulsan, Asan Medical Center, Seoul, Republic of Korea.

View Article and Full-Text PDF

Pseudo-Roberts Syndrome: An Entity or Not?

Fetal Pediatr Pathol 2020 Oct 7:1-7. Epub 2020 Oct 7.

Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, Missouri, USA.

Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Read More

View Article and Full-Text PDF
October 2020

Review of the MRI brain findings of septo-optic dysplasia.

Clin Radiol 2021 Feb 2;76(2):160.e1-160.e14. Epub 2020 Oct 2.

Academic Unit of Radiology, University of Sheffield, Floor C, Glossop Road, Sheffield, S10 2JF, UK.

Aim: To report the magnetic resonance imaging (MRI) findings from a retrospective case analysis of children with septo-optic dysplasia (SOD), a rare congenital disorder characterised by any combination of midline brain defects, optic nerve hypoplasia (ONH), and hypothalamic-pituitary dysfunction.

Materials And Methods: SOD was defined radiologically as complete or partial septum pellucidum (SP) absence with hypoplasia of at least one of the optic nerves and/or chiasm. Local MRI databases were searched for SOD cases in children over an 18-year period, and studies reviewed by two consultant paediatric neuroradiologists. Read More

View Article and Full-Text PDF
February 2021

Trio-Based Whole-Exome Sequencing Identifies a Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Front Pediatr 2020 1;8:461. Epub 2020 Sep 1.

Department of Laboratory Medicine, College of Medicine, Catholic University of Korea, Seoul, South Korea.

Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a missense mutation that was demonstrated in clinical diagnosis as global developmental delay (GDD) and brain anomaly without frontonasal dysplasia or other malformation. Read More

View Article and Full-Text PDF
September 2020

Unilateral right closed-lip schizencephaly.

BMJ Case Rep 2020 Sep 14;13(9). Epub 2020 Sep 14.

Radiology department, Royal Preston Hospital, Preston, Lancashire, UK

Schizencephaly is a rare central nervous system (CNS) malformation secondary to neuronal migration defects. The pathogenesis is complex and is secondary to environmental and genetic factors. Clinically, the majority of patients present with varying degrees of motor and psychological disturbances. Read More

View Article and Full-Text PDF
September 2020

An Unusual, Intermediate-Sized Lesion Affecting Motor Organization in a Patient With Schizencephaly: A Case Report.

Front Hum Neurosci 2020 10;14:258. Epub 2020 Jul 10.

Department of Physical Medicine and Rehabilitation, Chonbuk National University Hospital, Jeonju, South Korea.

Schizencephalies are abnormal clefts of the cerebral hemispheres that result from abnormal late neuronal migration and cortical organization. In the present study, we report a different type of unusual motor organization in a patient with a schizencephalic cleft in the right hemisphere and polymicrogyria in the opposite hemisphere. Despite similar brain pathology affecting the sensorimotor cortex, motor organization differed from previously known bilateral congenital brain lesions. Read More

View Article and Full-Text PDF

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.

J Med Imaging Radiat Oncol 2020 Dec 27;64(6):769-778. Epub 2020 Jul 27.

Department of Infectious Diseases, Alfred Health, Melbourne, Victoria, Australia.

Purpose: To: (1) Evaluate intrauterine MRI (iuMRI) findings in fetuses with suspected cCMV and correlate these with final diagnosis(es). (2) Correlate iuMRI in cases of confirmed cCMV with clinical outcomes.

Methods: Retrospective cohort of iuMRI referrals for suspected cCMV between 2010 and 2018. Read More

View Article and Full-Text PDF
December 2020

Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.

Prenat Diagn 2020 05 31;40(6):674-680. Epub 2020 Mar 31.

Division of Ultrasound in Obstetrics & Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Israel and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Objective: The purpose of this study is to describe the imaging findings in a group of fetuses with suspected agenesis of the septum pellucidum (ASP) and to evaluate their clinical outcome.

Methods: This is a retrospective multicenter study on a cohort of fetuses diagnosed with suspected ASP, between 2008 and 2017. The records of each patient, including ultrasound (US) and magnetic resonance studies, were reviewed and compared with the postnatal findings. Read More

View Article and Full-Text PDF

A journey through formation and malformations of the neo-cortex.

Childs Nerv Syst 2020 01 27;36(1):27-38. Epub 2019 Nov 27.

Department of Radiodiagnosis, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, 110029, India.

Purpose: Malformations of cortical development (MCD) are a heterogeneous group of disorders characterized by abnormal structure of the cerebral cortex. MCDs are an important cause of development delay and intractable epilepsy in children. In this review, we explore the embryological stages of development of neo-cortex, the imageology of various malformations which may occur during the journey of this development, the recent advances in imaging techniques used for diagnosing these malformations, and finally a simplified radiological approach to malformations of cortical development. Read More

View Article and Full-Text PDF
January 2020

Inborn errors of metabolism leading to neuronal migration defects.

J Inherit Metab Dis 2020 01 10;43(1):145-155. Epub 2019 Dec 10.

Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany.

The development and organisation of the human brain start in the embryonic stage and is a highly complex orchestrated process. It depends on series of cellular mechanisms that are precisely regulated by multiple proteins, signalling pathways and non-protein-coding genes. A crucial process during cerebral cortex development is the migration of nascent neuronal cells to their appropriate positions and their associated differentiation into layer-specific neurons. Read More

View Article and Full-Text PDF
January 2020

Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.

Childs Nerv Syst 2020 02 1;36(2):417-421. Epub 2019 Jun 1.

Department of Radio-Diagnosis, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, 600506, India.

Falcine sinus is a normal midline embryonic venous sinus present in the fetal brain and usually disappears by birth. Persistent falcine sinus (PFS) has been reported as a normal variant or along with vein of Galen (VOG) malformation, encephalocele, and other abnormalities. Schizencephaly, either closed or open type, has been reported with other associated vascular anomalies. Read More

View Article and Full-Text PDF
February 2020

Cortical malformations and COL4A1 mutation: Three new cases.

Eur J Paediatr Neurol 2019 May 22;23(3):410-417. Epub 2019 Feb 22.

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Child and Adolescence Neurology Unit, IRCCS Mondino Foundation, Pavia, Italy.

Aim: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions. Read More

View Article and Full-Text PDF

Septo-optic Dysplasia Plus Syndrome.

Cureus 2018 Dec 13;10(12):e3727. Epub 2018 Dec 13.

Neurology, Hospital Civil De Guadalajara "Fray Antonio Alcalde", Guadalajara, MEX.

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings. Read More

View Article and Full-Text PDF
December 2018

Frontoethmoidal encephalocele presenting in concert with schizencephaly.

Surg Neurol Int 2018 4;9:246. Epub 2018 Dec 4.

Department of Neurosurgery, Aga Khan University Hospital, Karachi, Pakistan.

Background: Schizencephaly is a rare defect which is identified as clefts that are lined with grey matter extending from the ependyma of the cerebral ventricles to the pia mater. An encephalocele occurs due to failure of neural tube closure resulting in a gap through which cerebrospinal fluid and meninges can bulge into a pouch. There have been rare instances when these two defects have presented simultaneously. Read More

View Article and Full-Text PDF
December 2018

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

Eur J Paediatr Neurol 2018 Nov 11;22(6):989-1005. Epub 2018 Sep 11.

Departments of Child Health, Obstetrics and Gynaecology and Radiology, University Hospital Southampton, United Kingdom; Clinical and Experimental Sciences, University of Southampton, United Kingdom.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Read More

View Article and Full-Text PDF
November 2018

Incongruent hemiatrophy and hemiparkinsonism in a patient with schizencephaly.

Clin Neurol Neurosurg 2018 12 25;175:106-107. Epub 2018 Oct 25.

Department of Neurology, Kyung Hee University Hospital, 23, Kyungheedae-ro, Dongdaemun-gu, 02447 Seoul, Republic of Korea; Department of Neurology, College of Medicine, Kyung Hee University, 23, Kyungheedae-ro, Dongdaemun-gu, 02447 Seoul, Republic of Korea. Electronic address:

View Article and Full-Text PDF
December 2018

Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development.

Ultrasound Obstet Gynecol 2019 Aug 8;54(2):199-206. Epub 2019 Jul 8.

Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong SAR.

Objective: To evaluate Sylvian fissure development by assessing Sylvian fissure angles in fetuses with malformation of cortical development (MCD).

Methods: This was a retrospective study of 22 fetuses with MCD. Cases with a stored three-dimensional (3D) brain volume acquired at 18 + 0 to 30 + 6 weeks of gestation at an ultrasound-based research clinic between January 2010 and December 2017 were identified through a database. Read More

View Article and Full-Text PDF

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed to clarify the phenotypic spectrum of COL4A1/A2 mutations in the context of cortical malformations that include schizencephaly, polymicrogyria and/or heterotopia.

Methods: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. Read More

View Article and Full-Text PDF
December 2018

A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits.

J Neurosci Rural Pract 2018 Jul-Sep;9(3):404-405

Department of Medicine - Division of Neurology, St. George Hospital University Medical Center, University of Balamand, Lebanon.

View Article and Full-Text PDF

Schizencephaly revisited.

Paul D Griffiths

Neuroradiology 2018 Sep 19;60(9):945-960. Epub 2018 Jul 19.

Academic Unit of Radiology, University of Sheffield, Floor C, Glossop Road, Sheffield, England, S10 2JF, UK.

Purpose: In this paper, I will report the range of appearances of schizencephaly in children and fetuses by reviewing a 10-year experience from a single centre and detail classification systems for the different forms of schizencephaly. This will lead to re-assessment of possible aetiological and mechanistic causes of schizencephaly.

Methods: All cases of pediatric and fetal schizencephaly were located on the local database between 2007 and 2016 inclusive. Read More

View Article and Full-Text PDF
September 2018

A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly.

Anaesth Crit Care Pain Med 2019 04 31;38(2):195-198. Epub 2018 Jul 31.

Pole of anesthesia resuscitation and emergencies, Military Hospital Moulay Ismail, Meknès, Morocco.

Schizencephaly is an anomaly of the subtotal brain development, which occurs as the presence of a cleft lined with grey matter extending from subarachnoid space to the ventricles. It may be manifested by psychomotor retardation, paresis or partial seizures and drug-resistant convulsions. The clinical expression of schizencephaly depends on the bilaterality of the slit, its size and its seat. Read More

View Article and Full-Text PDF

Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature.

Clin EEG Neurosci 2019 Jan 18;50(1):13-19. Epub 2018 Jun 18.

1 National Institute of Mental Health, Klecany, Topolová 748, Czech Republic.

Objectives: Although schizencephaly belongs to the class of neurodevelopmental disorders, which are a well-known predisposing factor for psychosis, there is a lack of relevant studies and diagnostic guidelines on this relationship.

Method: A case report of first-episode psychosis with persistent negative symptoms associated with schizencephaly is described and compared with 7 other cases found in the literature.

Results: We found perinatal pathology, cognitive deficit, and EEG abnormality in a patient with atypical initial symptoms of psychosis such as olfactory hallucinations. Read More

View Article and Full-Text PDF
January 2019

[Disorders of migration and gyration].

I Pogledic

Radiologe 2018 Jul;58(7):653-658

Universitätsklinik für Radiologie und Nuklearmedizin, Klinische Abteilung für Neuroradiologie und Muskuloskeletale Radiologie, Medizinische Universität Wien, Währinger Gürtel 18-20, 1090, Wien, Österreich.

Disorders of migration and gyration are a versatile group of pathologies that may cause epilepsy and/or neurodevelopmental delay. With the recent improvement of imaging methods, it is possible to detect these pathologies, not only on postnatal MRI but also in utero using fetal MRI. The use of MRI together with genetic tests and knowledge of the classification of these malformations makes early diagnosis possible. Read More

View Article and Full-Text PDF