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Clin Radiol 2019 Apr 3. 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 Apr 2. 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

Eur J Med Genet 2019 Mar 17. 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

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 May 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 Jan;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

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

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

Dev Med Child Neurol 2019 Mar 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

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

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 May 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

Am J Med Genet A 2018 01 24;176(1):48-55. Epub 2017 Nov 24.

Department of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. Read More

Prenat Diagn 2018 01 10;38(2):91-98. Epub 2018 Jan 10.

Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, People's Republic of China.

Objective: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).

Methods: This study involved 77 pregnancies with PFAs who underwent CMA.

Results: Chromosomal aberrations including pathogenic CNVs and variants of unknown significance were detected in 31. Read More

World Neurosurg 2018 Feb 16;110:e514-e519. Epub 2017 Nov 16.

Victor Horsley Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

Background: Complex hydrocephalus affecting lateral and fourth ventricles separately is occasionally managed with cerebrospinal fluid diversion via supratentorial and infratentorial ventricular catheters. The optimal configuration to reduce complications is currently unknown in adults. We describe a consistently similar clinical presentation of patients with complex hydrocephalus and a fourth ventricle separately drained by infratentorial shunt insertion. Read More

BMJ Case Rep 2017 Nov 8;2017. Epub 2017 Nov 8.

Department of Urology, University Hospital of Wales, Heath Hospital, Cardiff, UK.

Ventriculoperitoneal (VP) shunt surgery remains the most widely used neurosurgical procedure for the management of hydrocephalus. However, shunt complications are common and may require multiple surgical procedures during a patient's lifetime. We report the case of a 29-year-old patient with a background of Dandy-Walker malformation, occipital encephalocele, recurrent hydrocephalus, spina bifida and epilepsy presented with VP shunt migration into urinary and gastrointestinal tracts. Read More

Taiwan J Obstet Gynecol 2017 Oct;56(5):697-699

Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan. Electronic address:

Objective: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. Read More

Noro Psikiyatr Ars 2017 Sep 1;54(3):277-281. Epub 2016 Sep 1.

Department of Psychiatry, Bakırköy Prof. Mazhar Osman Mental Health and Neurological Diseases Training and Research Hospital, İstanbul, Turkey.

Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Read More

Prenat Diagn 2017 Nov 23;37(11):1160-1168. Epub 2017 Oct 23.

Department of Ultrasonic Medicine, Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Objective: To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs).

Methods: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. Read More

Can J Ophthalmol 2017 Aug 21;52(4):e125-e127. Epub 2017 Mar 21.

Department of Ophthalmology, Southern California Permanente Medical Group, Baldwin Park, Calif. Electronic address:

Asian J Neurosurg 2017 Jul-Sep;12(3):541-543

Department of Neurosurgery, SCB Medical College and Hospital, Cuttack, Odisha, India.

Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS). Dandy-Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. Read More

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

Background: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. Read More

Am J Med Genet A 2017 Sep 7;173(9):2442-2445. Epub 2017 Jul 7.

Department of Neurology, University of Melbourne, Austin Health, Heidelberg, Australia.

Am J Hum Genet 2017 Jul 15;101(1):23-36. Epub 2017 Jun 15.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. Read More

Sci Rep 2017 05 9;7(1):1601. Epub 2017 May 9.

Department of Pathology, Dunedin School of Medicine, University of Otago, PO Box 56, Dunedin 9054, New Zealand.

Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p. Read More

Ultrasound Obstet Gynecol 2017 Dec 8;50(6):745-752. Epub 2017 Nov 8.

Leeds Teaching Hospitals NHS Trust, Leeds, UK.

Objective: To assess the diagnostic and clinical contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with abnormalities of the posterior fossa as the only intracranial abnormality recognized on antenatal ultrasound.

Methods: This was a subgroup analysis of the MERIDIAN study of fetuses with abnormalities of the posterior fossa (with or without ventriculomegaly) diagnosed on antenatal ultrasound in women who had MRI within 2 weeks of ultrasound and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI is reported, as well as indicators of diagnostic confidence and effects on prognosis and clinical management. Read More

Congenit Anom (Kyoto) 2018 Jan 23;58(1):4-9. Epub 2017 May 23.

Department of Biostatistics, Dokuz Eylul University School of Medicine, Balcova, Izmir, Turkey.

The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Read More

Cardiol Young 2017 Sep 16;27(7):1441-1443. Epub 2017 Mar 16.

1Division of Maternal-Fetal Medicine,Department of Obstetrics and Gynecology,University of South Florida Morsani College of Medicine,2 Tampa General Circle,Tampa,FL 33606,United States of America.

Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. Read More

Clin Genet 2017 Nov 3;92(5):510-516. Epub 2017 May 3.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.

Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. Read More

Acta Obstet Gynecol Scand 2017 Jul 10;96(7):837-843. Epub 2017 Apr 10.

Prenatal Zürich, Zürich, Switzerland.

Introduction: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies.

Material And Methods: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively. Read More

Ultrasound Obstet Gynecol 2018 02 2;51(2):199-207. Epub 2018 Jan 2.

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

Objective: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-4V) as a simple, qualitative and reproducible first-trimester ultrasound feature of the posterior fossa for the prediction of central nervous system (CNS) anomalies and chromosomal defects.

Methods: First-trimester three-dimensional ultrasound datasets of the fetal brain were obtained prospectively from 65 consecutive normal singletons and retrospectively from 27 fetuses identified as having an abnormal posterior fossa on first-trimester ultrasound examination, and randomly combined to form the final study group. The stored ultrasound volumes were analyzed offline by two accredited sonologists, who were not aware of the final diagnoses. Read More

Actas Dermosifiliogr 2017 Nov 19;108(9):e57-e62. Epub 2017 Jan 19.

Servicio de Anatomía Patológica, Complejo Hospitalario de Toledo, Toledo, España.

Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Read More

Elife 2017 01 16;6. Epub 2017 Jan 16.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, United States.

loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur et al., 2014). Read More

J Med Genet 2017 08 13;54(8):521-529. Epub 2017 Jan 13.

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

Background: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function.

Methods: Brain MRI of 110 patients with Joubert syndrome was included in this study. Read More

Cureus 2016 Dec 6;8(12):e916. Epub 2016 Dec 6.

Internal Medicine, Griffin Hospital.

Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is at the time of birth, though some become apparent later in life. Read More

JAMA Otolaryngol Head Neck Surg 2017 02;143(2):168-177

Division of Pediatric Otolaryngology, Department of Otolaryngology, Washington University School of Medicine, St Louis, Missouri.

Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Read More

Childs Nerv Syst 2017 Apr 7;33(4):665-670. Epub 2016 Nov 7.

Division of Pediatric Neurosurgery, Department of Neurosurgery, Seoul National University Children's Hospital and Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Republic of Korea.

Introduction: Dandy-Walker malformation (DWM) is a congenital brain anomaly characterized by dysgenesis of the cerebellar vermis and the presence of a posterior fossa cyst. The association of syringomyelia with DWM is extremely rare.

Case Report: A 10-year-old patient who was diagnosed with DWM in infancy presented with progressive scoliosis and fecal incontinence. Read More

Rev Chil Pediatr 2016 Sep - Oct;87(5):406-410. Epub 2016 Mar 11.

Neurología Pediátrica, Hospital Materno Infantil, Departamento de Fisiología, Facultad de Ciencias Médicas, Universidad Nacional Autónoma de Honduras, Tegucigalpa, Honduras.

Introduction: Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation.

Objective: describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management.

Case Report: A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. Read More