685 results match your criteria Imaging in Dandy-Walker Malformation


The value of CSF flow studies in the management of CSF disorders in children: a pictorial review.

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

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http://dx.doi.org/10.1186/s13244-019-0686-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352391PMC
January 2019
1 Read

Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report.

J Neurosurg Pediatr 2019 Jan 4:1-5. Epub 2019 Jan 4.

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

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http://dx.doi.org/10.3171/2018.10.PEDS18235DOI Listing
January 2019
2 Reads

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

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

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http://dx.doi.org/10.1891/0730-0832.37.6.358DOI Listing
November 2018
1 Read

Developmental outcomes in children with congenital cerebellar malformations.

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

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http://doi.wiley.com/10.1111/dmcn.14059
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http://dx.doi.org/10.1111/dmcn.14059DOI Listing
March 2019
16 Reads

The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prenatal Counselling Based on Significant Pregnancy Morbidity and Neonatal Outcomes.

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

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http://dx.doi.org/10.1016/j.jogc.2018.03.130DOI Listing
February 2019
1 Read

Three-dimensional sonographic minute structure analysis of fetal cerebellar vermis development and malformations: utilizing volume contrast imaging.

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

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http://link.springer.com/10.1007/s10396-018-0906-x
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http://dx.doi.org/10.1007/s10396-018-0906-xDOI Listing
January 2019
1 Read

Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature.

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

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http://dx.doi.org/10.1016/j.wneu.2018.09.002DOI Listing
December 2018
9 Reads

Ablative stereotactic neurosurgery for irreducible neuroaggressive disorder in pediatric patients.

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

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http://dx.doi.org/10.1016/j.neucir.2018.05.003DOI Listing

Fetal cerebellar disorders.

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

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00001-9DOI Listing
October 2018
2 Reads

Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation.

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

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http://dx.doi.org/10.1016/j.wneu.2018.05.249DOI Listing
September 2018
16 Reads

[Dandy-Walker malformation].

Authors:
W Reith A Haussmann

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

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http://dx.doi.org/10.1007/s00117-018-0403-7DOI Listing
July 2018
2 Reads

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.

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

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http://doi.wiley.com/10.1111/cge.13227
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http://dx.doi.org/10.1111/cge.13227DOI Listing
May 2018
4 Reads

Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia.

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

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http://dx.doi.org/10.3389/fvets.2017.00241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786823PMC
January 2018
11 Reads

Prenatal diagnosis of Joubert syndrome: A case report and literature review.

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

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http://dx.doi.org/10.1097/MD.0000000000008626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758116PMC
December 2017
3 Reads

Anatomic variants in Dandy-Walker complex.

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

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August 2018
23 Reads

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

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

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http://dx.doi.org/10.1002/ajmg.a.38523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844264PMC
January 2018
11 Reads

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.

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

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http://dx.doi.org/10.1002/pd.5190DOI Listing
January 2018
7 Reads

Transtentorial Distortion Syndrome: Consistent Complication Following Lateral and Fourth Ventricular Shunting in Adults.

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

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http://dx.doi.org/10.1016/j.wneu.2017.11.032DOI Listing
February 2018
10 Reads

Migration of ventriculoperitoneal shunt to urethral and rectal orifices.

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

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http://dx.doi.org/10.1136/bcr-2017-220187DOI Listing
November 2017
6 Reads

Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report.

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

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http://dx.doi.org/10.1016/j.tjog.2017.08.022DOI Listing
October 2017
6 Reads

Dandy-Walker Malformation Presenting with Affective Symptoms.

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

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http://dx.doi.org/10.5152/npa.2017.18114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630109PMC
September 2017
15 Reads

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

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

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http://dx.doi.org/10.1002/pd.5159DOI Listing
November 2017
2 Reads

Foveal hypoplasia associated with Dandy-Walker syndrome.

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:

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http://dx.doi.org/10.1016/j.jcjo.2017.01.020DOI Listing
August 2017
6 Reads

Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.

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

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http://dx.doi.org/10.4103/1793-5482.145162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532946PMC
August 2017
5 Reads

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

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

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017
12 Reads

Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes.

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.

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http://dx.doi.org/10.1002/ajmg.a.38346DOI Listing
September 2017
1 Read

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

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

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http://dx.doi.org/10.1016/j.ajhg.2017.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501774PMC
July 2017
51 Reads

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

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

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http://dx.doi.org/10.1038/s41598-017-01519-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431643PMC
May 2017
31 Reads

Anatomical subgroup analysis of the MERIDIAN cohort: posterior fossa abnormalities.

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

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http://dx.doi.org/10.1002/uog.17485DOI Listing
December 2017
5 Reads

A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks.

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

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http://dx.doi.org/10.1111/cga.12223DOI Listing
January 2018
11 Reads

Prenatal diagnosis of aortopulmonary window associated with aberrant subclavian artery.

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

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http://dx.doi.org/10.1017/S104795111700035XDOI Listing
September 2017
1 Read

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

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

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http://dx.doi.org/10.1111/cge.13012DOI Listing
November 2017
5 Reads

Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome.

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

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http://dx.doi.org/10.1111/aogs.13131DOI Listing
July 2017
7 Reads

Non-visualization of choroid plexus of fourth ventricle as first-trimester predictor of posterior fossa anomalies and chromosomal defects.

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

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http://doi.wiley.com/10.1002/uog.17445
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http://dx.doi.org/10.1002/uog.17445DOI Listing
February 2018
15 Reads

Congenital Melanocytic Nevus Syndrome: A Case Series.

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

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http://dx.doi.org/10.1016/j.ad.2016.07.025DOI Listing
November 2017
2 Reads

Phenotypic outcomes in Mouse and Human dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

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

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http://dx.doi.org/10.7554/eLife.20898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271606PMC
January 2017
36 Reads

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

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

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http://dx.doi.org/10.1136/jmedgenet-2016-104425DOI Listing
August 2017
30 Reads

First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities.

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

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http://dx.doi.org/10.7759/cureus.916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5218882PMC
December 2016
3 Reads

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

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

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http://dx.doi.org/10.1001/jamaoto.2016.3175DOI Listing
February 2017
7 Reads

Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation.

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

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http://dx.doi.org/10.1007/s00381-016-3293-xDOI Listing
April 2017
7 Reads

[Dandy-Walker variant: Case report].

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

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http://dx.doi.org/10.1016/j.rchipe.2016.01.011DOI Listing
April 2017
9 Reads

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.

Am J Med Genet A 2017 Jan 18;173(1):280-284. Epub 2016 Oct 18.

Unita' di Genetica Medica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.

We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. Read More

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http://dx.doi.org/10.1002/ajmg.a.38002DOI Listing
January 2017
18 Reads

[Anatomy and malformations of the posterior cranial fossa].

Authors:
T Struffert

Radiologe 2016 Nov;56(11):960-966

Neuroradiologische Abteilung, Universitätsklinikum Erlangen, Schwabachanlage 6, 91054, Erlangen, Deutschland.

Many important structures are located in the confined space within the posterior cranial fossa. This article describes the main aspects of the anatomy. As a uniform classification of malformations of the posterior cranial fossa does not exist the main syndromes, such as Chiari malformations, zerebellar hypoplasia and dysplasia are discussed separately. Read More

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http://link.springer.com/10.1007/s00117-016-0174-y
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http://dx.doi.org/10.1007/s00117-016-0174-yDOI Listing
November 2016
23 Reads

Atypical psychotic symptoms and Dandy-Walker variant.

Neurocase 2016 10 23;22(5):472-475. Epub 2016 Sep 23.

a Department of Psychiatry , University of Michigan , Ann Arbor , MI , USA.

New-onset psychotic symptoms often respond well to antipsychotic treatment; however, symptoms may be difficult to treat when an underlying brain malformation is present. Here, we present a case of atypical psychotic symptoms in the context of a congenital cerebellar malformation (Dandy-Walker variant). The patient ultimately improved with paliperidone palmitate after multiple antipsychotic medication trials (both oral and one long-acting injectable) were ineffective. Read More

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http://dx.doi.org/10.1080/13554794.2016.1237657DOI Listing
October 2016
15 Reads

[Megacisterna magna as incidental finding in a boy with ADHD].

Tijdschr Psychiatr 2016;58(9):655-8

In this case report we describe how a 13-year-old boy with a complex development profile was diagnosed with adhd and who was also found to have a megacisterna magna, a posterior fossa anomaly in the Dandy-Walker continuum. We searched the literature for reports of other patients who had this (mild) brain anomaly along with psychiatric problems in general and attention problems in particular. Our search of the literature suggested a possible link between the two diagnostic entities. Read More

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January 2018
28 Reads

Congenital malformations of the brain and spine.

Handb Clin Neurol 2016 ;136:1121-37

Division of Neuroradiology, Department of Radiology, University of North Carolina, Chapel Hill, NC, USA. Electronic address:

In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. Read More

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http://dx.doi.org/10.1016/B978-0-444-53486-6.00058-2DOI Listing
February 2017
11 Reads

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Am J Med Genet A 2016 09 5;170(9):2237-47. Epub 2016 Jun 5.

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

Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. Read More

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http://dx.doi.org/10.1002/ajmg.a.37781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134331PMC
September 2016
55 Reads

Diagnostic imaging of posterior fossa anomalies in the fetus.

Semin Fetal Neonatal Med 2016 10 18;21(5):312-20. Epub 2016 May 18.

Department of Diagnostic Imaging, Sidra Medical and Research Center, Doha, Qatar.

Ultrasound and magnetic resonance imaging are the two imaging modalities used in the assessment of the fetus. Ultrasound is the primary imaging modality, whereas magnetic resonance is used in cases of diagnostic uncertainty. Both techniques have advantages and disadvantages and therefore they are complementary. Read More

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http://dx.doi.org/10.1016/j.siny.2016.04.007DOI Listing
October 2016
3 Reads

Dandy-Walker Cyst Presenting as Congenital Scalp Swelling.

Indian J Pediatr 2016 Aug 16;83(8):898-9. Epub 2016 May 16.

Department of Neurosurgery, Park Clinic, Kolkata, India.

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http://dx.doi.org/10.1007/s12098-016-2141-zDOI Listing
August 2016
19 Reads

A New Anatomic Variation: Coexistence of Both Dandy-Walker Variant and Ophthalmic Artery Originating From Contralateral Internal Carotid Artery.

J Craniofac Surg 2016 Jun;27(4):e336-8

*Department of Radiology, Medical Faculty, Ataturk University, Erzurum †Radiology Clinic, Afsin Public Hospital, Kahramanmaras, Turkey.

The authors report on 1 patient of variant origin of right ophthalmic artery (OA) from ophthalmic segment of the left internal carotid artery. A 41-year-old man was performed magnetic resonance (MR) imaging and MR angiography. Cerebral MR imaging revealed a Dandy-Walker variant. Read More

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http://dx.doi.org/10.1097/SCS.0000000000002482DOI Listing
June 2016
27 Reads