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Dev Med Child Neurol 2022 Apr 25;64(4):509-517. Epub 2021 Sep 25.

Service de Neurologie Pédiatrique, UMR 1141 NEURODIDEROT, INSERM, APHP, Hôpital Universitaire Robert Debré, Université de Paris, Paris, France.

Aim: To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly.

Method: In this observational study, we describe the developmental, neurological, cognitive, and brain imaging characteristics of 17 patients (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y-24y 6mo) and identify 14 new variants of WDR62. We similarly analyse the phenotypes and genotypes of the 59 previously reported families. Read More

Neurol India 2022 Mar-Apr;70(2):740-743

Departmen of Psychiatry, National Institute of Mental Health and Neuro Sciences, Hosur Road, Bangalore, Karnataka, India.

Background: Schizencephaly is a rare congenital disorder of cerebral cortical development. Clinical features vary based on the areas and severity of cortical involvement. The most prominent manifestations being motor deficits, seizures, and cognitive impairment. Read More

Seizure 2022 May 6;98:95-100. Epub 2022 Apr 6.

Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address:

Purpose: To investigate the relationship between the anatomical features of schizencephaly and characteristics of epilepsy.

Methods: We retrospectively evaluated patients diagnosed with schizencephaly using brain magnetic resonance imaging. Seizure outcomes were evaluated as drug-resistant epilepsy and frequent seizures (more than once a month) during the previous year. Read More

JIMD Rep 2022 Jan 29;63(1):3-10. Epub 2021 Sep 29.

Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.

Objective: To report an adolescent with infantile-onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5 months with dehydration and hepatomegaly. He also has an unrelated condition, X-linked nephrogenic diabetes insipidus. Read More

World Neurosurg 2022 03 8;159:70-79. Epub 2021 Dec 8.

Department of Radiology, UCMS and GTB Hospital, Delhi, India.

Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified gyral pattern/microlissencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. They can present with intractable epilepsy, developmental delay, neurologic deficits, or cognitive impairment. Read More

Biomed Res Int 2021 6;2021:9956609. Epub 2021 Sep 6.

Department of Physical Medicine and Rehabilitation, Jeonbuk National University Medical School, Jeonju, Republic of Korea.

Objective: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately evaluated. We correlated a color map of diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) with the hand function test (HFT) to identify the type of hand function that each test (DTI and TMS) reflects. Read More

Brain Dev 2021 Nov 17;43(10):1033-1038. Epub 2021 Jul 17.

Division of Child Neurology, Institute of Neurological Sciences, School of Medicine, Tottori University, Yonago, Japan.

Background: 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. Read More

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

Acta Neurol Belg 2022 06 16;122(3):859-860. Epub 2021 Mar 16.

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

Eur Rev Med Pharmacol Sci 2021 01;25(2):898-905

Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.

Objective: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations.

Patients And Methods: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. Read More

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

Am J Med Genet A 2021 09 18;185(9):2690-2718. 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

Brain Dev 2021 Mar 13;43(3):380-388. Epub 2020 Nov 13.

Neuroradiology Section, Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address:

Background: Walker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling. Read More

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

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

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.

Fetal Pediatr Pathol 2022 Jun 7;41(3):396-402. Epub 2020 Oct 7.

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

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

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

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

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

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

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

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

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

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

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

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

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