Search Our Scientific Publications & Authors

BJOG 2020 Jul 3. Epub 2020 Jul 3.

Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy.

Objective: To evaluate the usefulness of a Doppler technology highly sensitive for low velocity flow in the antenatal imaging of the torcular herophili (TH) in the second trimester of pregnancy.

Design: Prospective study.

Setting: Referral Fetal Medicine Unit. Read More

Childs Nerv Syst 2020 Jul 1. Epub 2020 Jul 1.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

Purpose: Tumorigenesis of medulloblastoma is believed to be associated with granule cell progenitor neurogenesis of the cerebellum. Nevertheless, congenital medulloblastomas are rarely found. Here, we report a case of congenital medulloblastoma that showed spontaneous albeit transient regression. Read More

Neurol Genet 2020 Jun 1;6(3):e414. Epub 2020 Apr 1.

National Institutes of Health (J.S.R., A.J.C., H.W., Z.Z.), National Cancer Institute Neuro-Oncology Branch; National Institutes of Health (D.P.A., J.D.H.), National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch; National Institutes of Health (Y.P., A.J., K.P.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology; Georgetown Hospital (M.A.N.), Internal Medicine and Pediatrics, Washington DC; National Institutes of Health (J.P.M., D.R.D.), National Institute of Neurological Disorders and Stroke, Mouse Imaging Facility, Bethesda, MD; George Washington University (J.G.S.), Radiology, Washington DC; National Library of Medicine (J.G.S.), MedPix®; National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology; and National Institutes of Health (R.H.K., B.A.K.), National Heart Lung and Blood Institute, Translational Vascular Medicine Branch, Bethesda, MD.

Objective: To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 () encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia.

Methods: Patients referred to our institution for evaluation of new, recurrent, and/or metastatic paragangliomas/pheochromocytoma were confirmed for gain-of-function syndrome by identification of the gain-of-function mutation in resected tumors and/or circulating leukocytes. The posterior fossa, its contents, and the spine were evaluated retrospectively on available MRI and CT images of the head and neck performed for tumor staging and restaging. Read More

World Neurosurg 2020 Apr 16;136:301-304. Epub 2020 Jan 16.

Department of Neurology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical, Hangzhou, Zhejiang, China. Electronic address:

Background: Dandy-Walker Syndrome (DWS) is a rare congenital brain malformation characterized by underdevelopment of cerebellar vermis and cystic enlargement of the fourth ventricle and enlargement of the posterior fossa. The cooccurrence of DWS and syringomyelia in adults is very rare.

Case Description: We report a man aged 19 years who presented with a 2-year history of tremor. Read More

Clin Neuroradiol 2020 Jan 15. Epub 2020 Jan 15.

Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

Purpose: The clinical variability of Blake's pouch cysts (BPC) may range from asymptomatic via ataxia to sequelae of decompensated hydrocephalus. On the other hand, Dandy-Walker malformation (DWM) and cerebellar vermis hypoplasia generally correlate with less favorable neurologic development. The aim was to illustrate the potential of prenatal and postnatal neuroimaging to distinguish a BPC or persistent BP from other posterior fossa malformations. Read More

J Pediatr Neurosci 2019 Oct-Dec;14(4):236-237. Epub 2019 Dec 3.

Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Cerebellar malformations are a rare group of disorders with clinical heterogeneity. The usual posterior fossa malformations comprise of the cystic lesions like Dandy-walker complex, enlarged cisterna magna or arachnoid cysts. The vermis is a commonly associated structure in both cystic and non-cystic posterior fossa malformations. Read More

J Clin Ultrasound 2020 May 20;48(4):235-239. Epub 2019 Dec 20.

University of Tunis El Manar, Tunis, Tunisia.

Dandy-Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker-Warburg and Meckel-Gruber syndromes. We report a novel association with type III lissencephaly in a 22-week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. Read More

Ultraschall Med 2019 Dec 3;40(6):692-721. Epub 2019 Dec 3.

Institute of Human Genetics, Medical University Graz, Austria.

Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. Read More

Mol Genet Genomic Med 2020 Jan 22;8(1):e1054. Epub 2019 Nov 22.

Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Clinical Genomics, San Giovanni Rotondo (FG), Italy.

Background: Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy-Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis.

Methods: Whole exome sequencing (WES) approach has been performed on fetal genomic DNA. Read More

Ultrasound Obstet Gynecol 2020 Jul;56(1):78-85

Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Objective: Normal cognitive development usually requires a structurally intact and complete cerebellar vermis. The aim of this study was to evaluate whether quantification by fetal magnetic resonance imaging (MRI) of vermis- and brainstem-specific imaging markers improves the definition of cystic posterior fossa malformations (cPFM).

Methods: Fetuses diagnosed with cPFM that had an available midsagittal plane on T2-weighted MRI were identified retrospectively and compared with gestational-age (GA) matched brain-normal controls. Read More

Chin Med J (Engl) 2019 Oct;132(20):2495-2497

Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

Am J Hum Genet 2019 09 29;105(3):606-615. Epub 2019 Aug 29.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address:

Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH). Read More

Prenat Diagn 2019 11 5;39(12):1086-1095. Epub 2019 Sep 5.

Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

Objectives: To quantitatively assess prenatal diagnostic performance of three-dimensional ultrasound (3D-US) for posterior fossa anomalies (PFA) and establish a preliminarily 3D-US prediction model.

Methods: Sixty singleton fetuses suspected of PFA by 2D-US presented their detailed 3D-US evaluation. The surface area of vermis (SAV), brainstem-vermis, and brainstem-tentorium angles were measured by 3D-US. Read More

Can J Neurol Sci 2019 11;46(6):760-761

Department of Radiology, Vijaya Diagnostic Centre, Hyderabad, India.

A 9-year-old female presented to neurology outpatient department of our hospital with complaints of recurrent generalized tonic-clonic seizures since birth and was being treated with anticonvulsants for the same. Patient also had complaints of giddiness and episodes of momentary loss of consciousness. There was history of twitching of left hemiface and eyelid during infancy, often associated with deviation of eyes to the left and groaning. Read More

Medicina (Kaunas) 2019 Jul 8;55(7). Epub 2019 Jul 8.

Federal University of Rio Grande do Norte, Natal 58051-900, Brazil.

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Read More

J Matern Fetal Neonatal Med 2019 Jun 4:1-10. Epub 2019 Jun 4.

c Fetal Imaging Unit , FETALMED - Maternal-Fetal Diagnostic Center , Santiago , Chile.

To report reference ranges for fetal cerebral posterior fossa measurements and to describe the sonographic findings, karyotype results, and pregnancy outcomes in fetuses presenting with cystic posterior fossa (CPF) in the first trimester of pregnancy. Two groups of patients undergoing first-trimester sonographic screening at 11-13 weeks' gestation were studied. The first (control group) consisted of 253 consecutive fetuses with normal posterior fossa, in which the brainstem (BS), fourth ventricle, cisterna magna, and BS-occipital bone (BS-OB) diameter were prospectively measured and the BS/BS-OB diameter ratio was calculated. Read More

Childs Nerv Syst 2019 08 17;35(8):1429-1434. Epub 2019 May 17.

Department of Neurosurgery, Tokyo Women's Medical University, 8-1 Kawada-cho Shinjuku-ku, Tokyo, 162-8666, Japan.

Background And Purpose: Although advances in imaging have allowed earlier and more accurate diagnosis of various fetal anomalies, Dandy-Walker malformation (DWM) remains one of the more challenging central nervous system anomalies to diagnose accurately before birth. Basilar invagination (BI), which is a dislocation of the dens in an upward direction, is occasionally accompanied by Klippel-Feil syndrome (KFS). We report a pediatric case of BI caused by atlanto-occipital subluxation (AOS) in KFS, suspected of having DWM prenatally but head magnetic resonance images (MRI) showed no evidence of that at 7 months of age. Read More

Clin Radiol 2019 06 3;74(6):489.e1-489.e7. Epub 2019 Apr 3.

Department of Obstetrics and Gynecology, University of Bern, Bern, Switzerland.

Aim: To test a new parameter to assess the position of the fetal cerebellar vermis in the posterior fossa (PF) using intrauterine magnetic resonance imaging (MRI).

Materials And Methods: The angle between the cerebellar vermis and the internal occipital crest (vermian-crest angle, VCA) was assessed retrospectively using MRI in fetuses with and without PF anomalies. Spearman's rank test was used to investigate correlation of the VCA with gestational age (GA). Read More

Am J Med Genet A 2019 06 2;179(6):1047-1052. Epub 2019 Apr 2.

Division of Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.

Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue-type findings have been described in some individuals. Read More

J Family Med Prim Care 2019 Jan;8(1):311-312

Department of Radiology, Seth GSMC and KEM Hospital, Mumbai, Maharashtra, India.

Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are described in other disorders such as Dandy-Walker and rhombencephalon synapsis. These disorders should be distinguished from Joubert syndrome on the basis of imaging. Read More

Pediatr Neurol 2019 06 2;95:88-89. Epub 2019 Feb 2.

Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia. Electronic address:

Eur J Med Genet 2020 Feb 17;63(2):103641. Epub 2019 Mar 17.

Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil. Electronic address:

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Read More

Cerebellum Ataxias 2019 5;6. Epub 2019 Mar 5.

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland.

Background: Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upward rotation of the cerebellar vermis per se is usually compatible with a more favorable outcome than Dandy-Walker malformation and profound vermian hypoplasia. Delayed fenestration of Blake's pouch may either mimic vermian hypoplasia by compression or be associated with it in individual cases. Read More

Ginekol Pol 2019 ;90(2):114

The 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.

J Int Med Res 2019 Apr 24;47(4):1771-1777. Epub 2019 Feb 24.

2 Department of Neurosurgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, Suzhou, China.

Dandy-Walker syndrome associated with syringomyelia is a rare condition, with few reports of adult cases. We describe an adult case of Dandy-Walker syndrome with concomitant syringomyelia. A 33-year-old man presented with a 3-month history of walking instability, numbness in the hands, memory deterioration, and urinary incontinence. Read More

Am J Med Genet A 2019 05 17;179(5):837-841. Epub 2019 Feb 17.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Read More

Insights Imaging 2019 Jan 28;10(1). Epub 2019 Jan 28.

Department of Radiodiagnosis, Pediatric Radiology section, Faculty of Medicine, Ain-Shams University, Abbasia, Cairo, 11657, Egypt.

CSF flow disorders are frequently encountered in children. The advent of MR technology with the emergence of new pulse sequences allowed better understanding of CSF flow dynamics. In this pictorial review, we aim to conduct a comprehensive review of the MR protocol used to study CSF flow disorders and to discuss the utility of each pulse sequence in the adopted protocol. Read More

J Neurosurg Pediatr 2019 01;23(3):369-373

3Neurointerventional Radiology, Boston Children's Hospital, Boston, Massachusetts.

Pediatric hydrocephalus is a well-studied and still incompletely understood entity. One of the physiological means by which hydrocephalus and intracranial hypertension evolve is through perturbations to normal vascular dynamics. Here the authors report a unique case of an extracranial vascular anomaly resulting in persistently elevated intracranial pressures (ICPs) independent of CSF diversion in a patient with a Joubert syndrome-related disorder. Read More

Ultrasound Obstet Gynecol 2019 Jun;53(6):850-852

Feindiagnostik, Berlin, Germany.

BMJ Case Rep 2018 Dec 18;11(1). Epub 2018 Dec 18.

Department of Obstetrics and Gynecology, Erasmus MC, Rotterdam, The Netherlands.

We present a case report of a foetus with a herniated Dandy-Walker cyst and bilateral rudimentary cervical ribs. The cervical ribs were visualised prenatally by three-dimensional ultrasound and confirmed by post-termination radiography. The prevalence of cervical ribs is higher in deceased fetuses and neonates with or without structural abnormalities compared with healthy individuals and might be regarded as a marker of disadvantageous fetal development. Read More

Neonatal Netw 2018 Nov;37(6):358-364

We explore the outcome of a fetus with a posterior fossa abnormality thought to be a Dandy-Walker malformation based on prenatal ultrasound imaging. The infant was later diagnosed by magnetic resonance imaging (MRI) as having an isolated cisterna magna. When assessing brain abnormalities, there is increased accuracy of prenatal MRI versus prenatal ultrasound. Read More

J Neurosurg Pediatr 2018 11;23(2):159-163

1Department of Neurosurgery.

The authors report on the clinical course of two infants with severe hemophilia A (HA) and concomitant progressive hydrocephalus that required management with a ventriculoperitoneal shunt. The first child, with known HA, presented with a spontaneous intracranial hemorrhage and acquired hydrocephalus. He underwent cerebrospinal fluid diversion with a temporary external ventricular drain, followed by placement of a ventriculoperitoneal shunt. Read More

Neuropsychobiology 2019 16;77(2):59-66. Epub 2018 Nov 16.

Service de Psychiatrie, CHU de Caen, Caen, France.

Introduction: Dandy-Walker malformation is a rare congenital malformation involving cystic dilatation of the fourth ventricle, enlarged posterior fossa, complete or partial agenesis of the cerebellar vermis, elevated tentorium cerebelli, and hydrocephalus. Previous research highlighted a possible role for the cerebellum in schizophrenia as well as the contribution of underlying brain malformations to treatment resistance. Here, we present a case of a Dandy-Walker malformation-like condition revealed by a refractory schizophrenia in a 24-year-old male patient. Read More

J Med Genet 2019 05 16;56(5):340-346. Epub 2018 Oct 16.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown.

Objective: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families. Read More

Dev Med Child Neurol 2019 03 15;61(3):350-358. Epub 2018 Oct 15.

Division of Pediatric Neurology, Department of Pediatrics, Neurology/Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

Aim: Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes.

Method: Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Read More

J Obstet Gynaecol Can 2019 Feb 10;41(2):166-173.e1. Epub 2018 Oct 10.

Department of Obstetrics & Gynecology, Cumming School of Medicine, University of Calgary, Calgary, AB; Department of Obstetrics & Gynecology, Saint John Regional Hospital, Horizon Health Network, Saint John, NB. Electronic address:

Background & Objectives: Prenatal screening and diagnostic imaging advances have led to an increased detection of CNS anomalies, including ventriculomegaly/congenital hydrocephalus (HCP), Dandy-Walker malformation (DWM), and myelomeningocele (MMC). Data on pregnancy outcomes and the impact of prenatal diagnosis on neonatal outcomes is limited. Our study aimed to provide data on obstetric and neonatal outcomes following prenatal diagnosis of one of three CNS anomalies. Read More

J Med Ultrason (2001) 2019 Jan 5;46(1):113-122. Epub 2018 Oct 5.

Department of Clinical Medicine, Quanzhou Medical College, Quanzhou, 362000, Fujian, People's Republic of China.

Purpose: To obtain three-dimensional ultrasonic (3D US) structural details and biometrics of the fetal cerebellar vermis and evaluate the value of developmental and malformation identification.

Methods: The 3D US minute structure of the fetal cerebellar vermis in mid-sagittal view was detected in normal fetuses (n = 438; 16-41 weeks). Biometric sizes were measured to establish the stage-specific norms and reproducibility analysis. Read More

Prenat Diagn 2018 12 28;38(13):1035-1041. Epub 2018 Oct 28.

Department of Radiology, Seattle Children's Hospital, Seattle, Washington.

Objective: Suspected Dandy-Walker continuum anomalies constitute a significant percentage of prenatal cases evaluated by magnetic resonance imaging (MRI). To unify the description of posterior fossa malformations, we sought to establish objective measurements for the posterior fossa in normal fetuses between 18 and 37 weeks gestation.

Methods: T2-weighted images of normal fetal brains in sagittal projection were obtained from fetal magnetic resonance (MR) studies of normal brains performed from 2009 to 2017. Read More

Ultrasound Obstet Gynecol 2019 Aug;54(2):207-214

Fetopathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Objective: To assess the differential diagnostic significance of a series of quantitative and qualitative variables of the cerebellar vermis in fetuses with posterior fossa cystic malformation, including Dandy-Walker malformation (DWM), vermian hypoplasia (VH) and Blake's pouch cyst (BPC).

Methods: This was a retrospective study of confirmed cases of DWM, VH and BPC, diagnosed at the Fetal Medicine and Surgery Unit of the Federico II University between January 2005 and June 2013 or the Fetal Medicine and Surgery Unit of G. Gaslini Hospital between July 2013 and September 2017. Read More

World Neurosurg 2018 Dec 8;120:583-589.e3. Epub 2018 Sep 8.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Philippines. Electronic address:

Background: Neurocutaneous melanosis is a rare phakomatosis characterized by large or multiple pigmented nevi and melanosis of the leptomeninges. It is often complicated by hydrocephalus due to melanotic deposits interfering with cerebrospinal fluid reabsorption in the basal cisterns or causing foraminal or aqueductal obstruction. In 10% of cases, it will be associated with the Dandy-Walker complex. Read More

Am J Med Genet C Semin Med Genet 2018 06;178(2):214-228

Department of Pathology, CHU Sainte-Justine-Chemin de la Côte Sainte-Catherine, Université de Montreal, Montreal, Québec, Canada.

Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. The spectrum of HPE is very broad and encompasses various neuropathological phenotypes of different severity. The recent literature has demonstrated that the phenotypic variability of HPE ranges from aprosencephaly-atelencephaly, at the most severe end, to milder forms such as the "middle interhemispheric variant" of HPE at the less severe end of the spectrum. Read More

BMC Pediatr 2018 08 6;18(1):266. Epub 2018 Aug 6.

Department of Pediatrics, The First Hospital of Jilin University, Changchun, Jilin, 130021, People's Republic of China.

Background: Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of partial chromosomal abnormalities in some leukemic cells and tumor specimens. Read More

Neurocirugia (Astur) 2018 Nov - Dec;29(6):296-303. Epub 2018 Jun 18.

Centro Médico Nacional 20 Noviembre, ISSSTE, Ciudad de México, México. Electronic address:

Introduction And Objectives: The irreducible neuroaggressive disorder (IND) is a well-described entity known to be associated with impulsive and aggressive behavior. While various studies have assessed available pharmacological and non-pharmacological treatment regimens, patients with IND continue to pose a major threat to themselves and society. While targeted stereotactic therapy for IND has gained traction in recent years, there is a paucity of information describing comparative effectiveness of different validated anatomic regions. Read More

Handb Clin Neurol 2018 ;155:3-23

Fetal Neurology Clinic, Ob-Gyn Ultrasound Unit, Lis Maternity Hospital, Tel Aviv, Israel.

The embryologic development of the cerebellum extends over a long time period, thus making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of the main steps of fetal posterior fossa development; the normal imaging patterns at different stages of embryogenesis; the large spectrum of cerebellar malformations; and their clinical presentations enables diagnosis and precise counseling of parents. Sonography is the most important imaging method for the screening of cerebellar malformations since it is noninvasive, widely available, and safe for both mother and child. Read More

World Neurosurg 2018 Sep 8;117:66-67. Epub 2018 Jun 8.

Clinical Neurological Sciences, Division of Neurosurgery, University Hospital, London Health Sciences Centre, London, Ontario, Canada.

Intradiploic cerebrospinal fluid cysts are rare entities that have been reported to occur following trauma and surgery. We present a case of a 53-year-old female patient with an incidental intradipoloic cerebrospinal fluid cyst in communication with a Dandy-Walker malformation, likely related to a remote history of childhood surgery for occipital encephalocele. Read More

Radiologe 2018 Jul;58(7):629-635

Klinik für Diagnostische, und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland.

The Dandy-Walker malformation is the most frequent cerebral malformation. It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an enlarged posterior fossa with cranially shifted position of the lateral sinus, tentorium and torcula herophili. This malformation was first described by Dandy and Blackfan in 1914 then supplemented again by Taggart and Walker in 1942. Read More

Clin Genet 2018 05 15;93(5):1081-1086. Epub 2018 Mar 15.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Read More

Front Vet Sci 2017 22;4:241. Epub 2018 Jan 22.

Centre for Clinical Veterinary Medicine, Clinic of Small Animal Medicine, LMU Munich, Munich, Germany.

Cerebellar and hindbrain malformations, such as cerebellar hypoplasia (CH), vermis hypoplasia, and Dandy-Walker malformation, occur in dogs as well as in humans. Neuroimaging is essential for a precise description of these malformations and defining translational animal models. Neuroimaging is increasingly performed in puppies, but there is a lack of data on developmental changes in the caudal fossa, which can impair assessment of caudal fossa size in this age group. Read More

Medicine (Baltimore) 2017 Dec;96(51):e8626

Ultrasound Department, Sheng Jing Hospital of China Medical University, Shenyang, Liaoning Province, People's Republic of China.

Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Read More

Rom J Morphol Embryol 2017 ;58(3):1051-1055

Department of Morphological Sciences, Department of Surgical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. Read More