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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

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

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

Ultrasound Obstet Gynecol 2018 Oct 31. Epub 2018 Oct 31.

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

Objectives: To evaluate Sylvian fissure development by assessing Sylvian fissure angles in cases with malformations of cortical development (MCD).

Methods: This was a retrospective study of 22 cases of MCD. 7/22 cases had extracranial abnormalities such as cardiac, renal, gastrointestinal and/or digital anomalies, and 5/22 had minor abnormalities such as micrognathia, lowset ear and single umbilical artery. Read More

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

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.

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

Anaesth Crit Care Pain Med 2019 Apr 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

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

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

Hum Genome Var 2018 24;5. Epub 2018 Apr 24.

1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Porencephaly and schizencephaly are congenital brain disorders that can be caused by mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in (c.2645_2646delinsAA, p. Read More

Clin Neuroradiol 2018 Apr 16. Epub 2018 Apr 16.

Department of Radiology, University of Minnesota Medical Center, MMC 292, B‑212 Mayo, 420 DelawareStreet SE, 55455, Minneapolis, MN, USA.

Purpose: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study.

Methods: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI). Read More

Yonago Acta Med 2017 Dec 5;60(4):241-245. Epub 2018 Feb 5.

Division of Reproductive-Perinatal Medicine and Gynecologic Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan.

Schizencephaly and porencephaly are extremely rare types of cortical dysplasia. Case 1: Prenatal magnetic resonance imaging (MRI) showed wide clefts in the frontal and parietal lobes bilaterally. On postnatal day 3, MRI T2-weighted images showed multiple hypointensities in the clefts and ventricular walls, suggestive of hemosiderosis secondary to intracranial hemorrhage. Read More

Pediatr Neonatol 2018 12 6;59(6):573-580. Epub 2018 Jan 6.

Division of Neuroradiology, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, Taoyuan, Taiwan.

Background: The aim of this study was to evaluate the clinical, and neuroimaging features, outcomes, and other associated systemic disorders in children with schizencephaly at a single medical center in Taiwan.

Methods: We retrospectively reviewed the medical records and magnetic resonance images (MRI) of children with schizencephaly between January 2000 and December 2014. The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. Read More

J Family Med Prim Care 2017 Apr-Jun;6(2):450-452

Department of Oral Medicine and Radiology, VSPM Dental College and Research Centre, Nagpur, Maharashtra, India.

Schizencephaly, i.e., split brain, is a rare, congenital cerebral malformation. Read More

Radiol Technol 2018 Jan;89(3):279-295

Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. Read More

Radiol Case Rep 2017 Sep 27;12(3):602-605. Epub 2017 May 27.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA.

The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. Read More

J Neurol Sci 2017 07 10;378:167-169. Epub 2017 May 10.

C2S Laboratory (EA 6291), University of Reims Champagne-Ardenne, Reims, France; Department of Adult Psychiatry, Robert Debré Hospital, Reims University Hospital, Reims, France.

J Child Neurol 2017 08 8;32(9):797-803. Epub 2017 May 8.

2 Departments of Pediatrics, Neurology, and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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. Read More

J Neuroimaging 2017 05 29;27(3):292-299. Epub 2017 Mar 29.

Department of Neurology, Epilepsy Section, University of Colorado Denver School of Medicine, Aurora, CO.

Background And Purpose: MR-guided laser interstitial thermal therapy (MRgLITT) is an increasingly popular neuroablative method for the surgical treatment of epilepsy patients. This article intends to demonstrate the utility and pitfalls of imaging in the context of patient care with MRgLITT.

Material And Methods: A retrospective review of the medical records and imaging database with six illustrative cases selected to demonstrate the use of imaging throughout patient management with MRgLITT in diverse clinical situations and pathologies. Read More

Neuropediatrics 2017 Apr 23;48(2):119-122. Epub 2017 Jan 23.

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.

 Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported.  The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly. Read More

Neurology 2017 01;88(2):e24-e25

From the Center for Neuroscience and Behavioral Medicine (L.B., A.K., A.Z., W.D.G.) and the Division of Diagnostic Imaging and Radiology (J.G.M.), Children's National Health System, The George Washington University, Washington, DC.

Iran J Pediatr 2016 Aug 6;26(4):e4589. Epub 2016 Jun 6.

Department of Obstetrics and Gynecology, Shiraz University of Medical Sciences, Shiraz, IR Iran.

Background: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society.

Objectives: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. Read More

Childs Nerv Syst 2017 Feb 4;33(2):363-367. Epub 2016 Oct 4.

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Background: Parietal atretic cephalocele (AC) and its associated intracranial venous anomalies, such as vertical embryonic positioning of the straight sinus (VEP of SS), have, in previous reports, been exclusively restricted to the midline.

Clinical Presentation: We report a patient with lateralized parietal AC on the right side. The AC was in the shape of a tadpole, with a large head and a long tail, extending to the proximity of the right external canthus, where a lacrimal gland fistula was observed. Read More

J Clin Diagn Res 2016 Jul 1;10(7):TD01-2. Epub 2016 Jul 1.

Specialist Grade I, Indira Gandhi Government General Hospital and Post Graduate Institute , Puducherry, India .

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. Read More

J Pediatr Neurosci 2016 Apr-Jun;11(2):128-30

Department of Neurosurgery, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India.

Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. Read More

Pediatr Neurol 2016 10 10;63:23-38. Epub 2016 May 10.

Department of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. Read More

Epilepsy Behav Case Rep 2016 11;6:30-2. Epub 2016 Feb 11.

Seirei Hamamatsu General Hospital, Comprehensive Epilepsy Center, Japan.

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. Read More

Brain Dev 2017 Jan 9;39(1):23-39. Epub 2016 Jul 9.

Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada; Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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. Read More

Acta Neurol Belg 2017 03 27;117(1):403-404. Epub 2016 May 27.

Department of Pediatrics, Division of Child Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Niger Postgrad Med J 2016 Jan-Mar;23(1):38-40

Department of Radiology, University of Port Harcourt Teaching Hospital and University of Port Harcourt, Port Harcourt, Rivers State, Nigeria.

Schizencephaly is a congenital condition characterized by cerebrospinal fluid-filled clefts that extend from the pia surface of the cerebral hemisphere to the ependymal surface of the ventricle. Magnetic resonance imaging is the modality of choice for its diagnosis. Very few cases have been described in the literature in this environment. Read More

World Neurosurg 2016 Jun 25;90:708.e5-708.e9. Epub 2016 Mar 25.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA. Electronic address:

Background: Scalp arteriovenous malformations (sAVMs) are well-described congenital abnormalities for which co-occurrence with other vascular pathologies significantly alters management strategies. The authors describe a case in which congenital sAVM was found with concomitant intracranial, flow-dependent vascular malformation and schizencephalic developmental anomaly.

Case Description: A 21-year-old man presented with a right-sided bruit and an enlarging palpable, pulsatile scalp mass. Read More

Neurol Sci 2016 Jul 10;37(7):1079-88. Epub 2016 Mar 10.

Department of Neurosurgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, People's Republic of China.

Schizencephaly is a rare malformation of cortical development resulting from cell migration defects that occur unilaterally or bilaterally. The type of the schizencephalic cleft can be open lip or closed lip. Patients suffering from refractory seizures secondary to schizencephaly should be considered for surgical treatment. Read More

Taiwan J Obstet Gynecol 2015 Dec;54(6):797-8

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Epilepsia 2016 Jan 9;57(1):151-61. Epub 2015 Dec 9.

Department of Neurological Surgery, UCSF Comprehensive Epilepsy Center, University of California, San Francisco, California, U.S.A.

Objective: Polymicrogyria (PMG) is a malformation of cortical development characterized by formation of an excessive number of small gyri. Sixty percent to 85% of patients with PMG have epilepsy that is refractory to medication, but surgical options are usually limited. We characterize a cohort of patient with polymicrogyria who underwent epilepsy surgery and document seizure outcomes. Read More

J Med Ultrason (2001) 2015 Jul 18;42(3):445-6. Epub 2015 Jan 18.

Department of Obstetrics and Gynecology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Magn Reson Med Sci 2015 ;14(4):373

Reason for correction: There is an error of the year of publication.Details: We have to correct the issue year from 2014 to 2015. Read More

Pediatr Neurol 2016 Jan 28;54:39-42.e1. Epub 2015 Aug 28.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address:

Background: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011.

Methods: We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. Read More

World J Radiol 2015 Oct;7(10):329-35

Bilal Battal, Selami Ince, Veysel Akgun, Murat Kocaoglu, Emrah Ozcan, Mustafa Tasar, Department of Radiology, Gulhane Military Medical School, 06018 Etlik, Ankara, Turkey.

Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. Read More

No To Hattatsu 2015 Sep;47(5):367-71

Intrathecal baclofen (ITB) therapy is popular for the management of intractable spasticity. In 2007, the indications of ITB therapy expanded to include spasticity of children in Japan. In this report, we assessed the utility of radioisotopic scintigraphy in the diagnosis of failed ITB therapy. Read More

Pediatr Radiol 2015 Sep 7;45 Suppl 3:S454-62. Epub 2015 Sep 7.

Department of Radiology, Icahn School of Medicine at Mt. Sinai, Internal Mail Box 1234, One Gustave Levy Place, New York, NY, 10024, USA,

This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero. Read More

J Assoc Physicians India 2014 Oct;62(10):45-6

PM R 2015 Aug 28;7(8):901-902. Epub 2015 Mar 28.

Department of Physical Medicine and Rehabilitation, Temple University School of Medicine, Philadelphia, PA 19140.

Indian J Pediatr 2015 Jul 25;82(7):591-4. Epub 2015 Feb 25.

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Objective: To elucidate the clinical-radiological profile of children with malformations of cortical development.

Methods: This observational study was conducted at a tertiary care child hospital of north India. Clinical-radiological data records were reviewed and assessment of children's functioning in five key areas of physical, adaptive behavior, social emotional, cognitive and communication was performed using Developmental Profile-3. Read More

Childs Nerv Syst 2015 Apr 18;31(4):551-6. Epub 2015 Feb 18.

Department of Radiology, Polish-American Institute of Pediatrics/Jagiellonian University, 265 Wielicka St., 30-663, Kraków, Poland,

Background: Schizencephaly is an uncommon congenital disorder of cerebral cortical development. The defect is characterized by the presence of a cleft in the brain extending from the surface of the pia mater to the cerebral ventricles. The margins of the cleft are lined with heterotropic, dysplastic gray matter. Read More

Pol J Radiol 2014 30;79:502-7. Epub 2014 Dec 30.

Clinical Department of Radiology, Provincial Hospital No. 2, Rzeszów, Poland.

Background: Gray matter heterotopia (GMH) is a malformation of the central nervous system characterized by interruption of normal neuroblasts migration between the 7(th) and 16(th) week of fetal development. The aim of the study was the analysis of clinical symptoms, prevalence rate and the most common concurrent central nervous system (CNS) developmental disorders as well as assessment of characteristic morphological changes of gray matter heterotopia in children hospitalized in our institution between the year 2001 and 2012.

Material/methods: We performed a retrospective analysis of patients' data who were hospitalized in our institution between the year 2001 and 2012. Read More

J Child Neurol 2015 Sep 22;30(10):1388-94. Epub 2014 Dec 22.

Department of Obstetrics and Gynaecology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

The aim of this study was to present our experience with 5 cases of fetal schizencephaly in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed cases with schizencephaly. Maternal characteristics, ultrasonography, prenatal-postnatal magnetic resonance imaging (MRI) findings, and postnatal outcome were noted. Read More

Magn Reson Med Sci 2015 15;14(3):223-6. Epub 2014 Dec 15.

Department of Radiology, Tokai University School of Medicine.

Type IV collagen α1 (COL4A1) forms a sheet-like network beneath the endothelium and surrounding smooth muscle cells. Associations of mutations in COL4A1 with porencephaly, schizencephaly, and intracranial hemorrhages are known. We report susceptibility-weighted imaging (SWI) findings showing hemorrhages in the peripheral portion of the region of schizencephaly, intraparenchymal hemorrhages, and tortuosity of the intracranial veins in a child with a COL4A1 mutation. Read More

Pol J Radiol 2014 30;79:444-9. Epub 2014 Nov 30.

Institute of Nursing and Health Sciences, Faculty of Electroradiology, University of Rzeszów, Rzeszów, Poland.

Background: Schizencephaly is a rare developmental malformation of the central nervous system associated with cell migration disturbances. Schizencephaly can be uni- or bilateral and is divided into two morphological types. The cleft is defined as type I ("closed lips") if there are fused clefts in cerebral mantle. Read More

Ultrasound Obstet Gynecol 2015 Nov 12;46(5):585-94. Epub 2015 Oct 12.

Neuroradiology Department, Hospital Lusíadas, Lisboa, Portugal.

Objective: To describe the anatomical structures that form the anterior (AC) and posterior (PC) complexes of the fetal brain and to categorize their anomalies in fetuses with cerebral abnormalities.

Methods: We analyzed retrospectively volume datasets from 100 normal fetuses between 20 and 30 weeks' gestation. On the axial transventricular plane, our analysis of the AC included the interhemispheric fissure (IHF), the callosal sulcus (CS), the genu of the corpus callosum (CC), the cavum septi pellucidi (CSP) and the anterior horns (AH) of the lateral ventricles. Read More