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https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#1
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28378426/a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks
#2
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
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. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#3
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
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. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28295149/enlarged-posterior-fossa-on-prenatal-imaging-differential-diagnosis-associated-anomalies-and-postnatal-outcome
#4
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
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...
March 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#5
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28236314/non-visualization-of-choroid-plexus-of-the-fourth-ventricle-as-a-first-trimester-predictor-of-posterior-fossa-anomalies-and-chromosomal-defects-a-three-dimensional-ultrasound-study
#6
P Martinez-Ten, T Illescas, B Adiego, M Estevez, C Bermejo, A E Wong, W Sepulveda
OBJECTIVE: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-IVV) as a simple, qualitative, and reproducible first-trimester ultrasound feature of the posterior fossa that predicts brain anomalies and chromosomal defects. METHODS: Three-dimensional (3D) ultrasound datasets of the fetal brain were prospectively obtained from 65 consecutive singleton, normal first-trimester fetuses and retrospectively from 27 fetuses identified as having an abnormal fetal posterior fossa on the first-trimester scan, which were randomly included in the final study group...
February 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28217162/a-rare-case-of-giant-occipital-meningocele-with-dandy-walker-syndrome-can-it-grow-bigger-than-this
#7
Dipanker Singh Mankotia, Guru Dutta Satyarthee, Bhoopendra Singh, Bhawani Shankar Sharma
Association of Dandy-Walker syndrome with occipital meningocele (OMC) is extremely rare and about thirty cases are reported till date in the Western literature. However, OMC is classified by Talamonti et al. into small, large, and giant categories with respective diameters were upto 5 cm in small, large with 5-9 cm, and giant with >9 cm. Usually the size of OMC progressively increases as raised intracranial pressure leads to compensatory cerebrospinal fluid escape into sac with the growth of children. Authors report an interesting case of an 18-month-old female child with extra-gigantic OMC, whose size was almost same since birth, representing the first case of its kind, who underwent successful surgical repair...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28092268/phenotypic-outcomes-in-mouse-and-human-foxc1-dependent-dandy-walker-cerebellar-malformation-suggest-shared-mechanisms
#8
Parthiv Haldipur, Derek Dang, Kimberly A Aldinger, Olivia K Janson, Fabien Guimiot, Homa Adle-Biasette, William B Dobyns, Joseph R Siebert, Rosa Russo, Kathleen J Millen
FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur et al., 2014). We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje cell abnormalities causing subsequent disruptions in postnatal cerebellar foliation and lamination. Particularly striking is the presence of a partially formed posterior lobule which echoes the posterior vermis DW 'tail sign' observed in human imaging studies...
January 16, 2017: ELife
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#9
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
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. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28052210/joubert-plus-syndrome-with-self-mutilation-a-case-report
#10
Yousr N Mowafy, Nadia A Wahba, Aly A Sharaf
BACKGROUND: Joubert syndrome is a very rare condition with dismal prognosis. It is characterized by several abnormalities including molar tooth sign on MRI. When coupled with mega cisterna magna- a feature of the Dandy Walker syndrome- it is categorized as Joubert plus syndrome. CASE REPORT: A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28017487/dandy-walker-malformation-a-case-study-of-an-infant-with-an-increasing-head-circumference-and-delayed-developmental-milestones
#11
Marlena Leigh Sherman, Sharron Close, Brad Weselman
No abstract text is available yet for this article.
May 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/27822765/syringomyelia-caused-by-an-arachnoid-web-in-a-patient-with-shunted-dandy-walker-malformation
#12
Hee Chang Lee, Jung Won Choi, Ji Yeoun Lee, Ji Hoon Phi, Seung-Ki Kim, Byung-Kyu Cho, Kyu-Chang Wang
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. He had been treated with cystoventriculoperitoneal shunting with a Y-connection during infancy, which was followed by a revision 6 years later...
April 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27766825/dandy-walker-syndrome-a-rare-presentation-in-adult
#13
Shruti Agrawal, Mahesh Dave, Hemant Mahur, Manish Aswani, Ravi Goyal, Nitesh Pansari, Pradeep Kaswan
No abstract text is available yet for this article.
October 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27753286/a-6-5%C3%A2-mb-deletion-at-3q24q25-2-narrows-wisconsin-syndrome-critical-region-to-a-750%C3%A2-kb-interval-a-potential-role-for-mbnli
#14
Veronica Bertini, Alessandro Orsini, Roberta Mazza, Vineela Mandava, Giuseppe Saggese, Alessia Azzara', Alice Bonuccelli, Angelo Valetto
We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27729957/fetal-central-nervous-system-anomalies-detected-by-magnetic-resonance-imaging-a-two-year-experience
#15
Sepideh Sefidbakht, Sakineh Dehghani, Maryam Safari, Homeira Vafaei, Maryam Kasraeian
BACKGROUND: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. MATERIALS AND METHODS: One hundred and seven (107) pregnant women with suspicious fetal anomalies in prenatal ultrasound entered a cross-sectional retrospective study from 2011 to 2013...
August 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/27662527/atypical-psychotic-symptoms-and-dandy-walker-variant
#16
Aislinn J Williams, Zhenni Wang, Stephan F Taylor
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. Neuroimaging may provide valuable diagnostic and prognostic information in cases of new-onset psychosis with atypical features and treatment resistance, even in the absence of neurologic signs and symptoms...
October 2016: Neurocase
https://www.readbyqxmd.com/read/27645624/ep01-04-v-mode-and-b-mode-in-differential-diagnosis-among-hydrocephalic-persistent-blake-s-pouch-non-hdc-persistent-blake-s-pouch-and-dandy-walker-complex
#17
E Varvarigos, M Iaccarino, S Iaccarino, M La Verde, V Parisella, R N Laurini
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27639888/-megacisterna-magna-as-incidental-finding-in-a-boy-with-adhd
#18
S Schevenels, C Klockaerts
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.
2016: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/27493822/dandy-walker-malformation-presenting-with-psychological-manifestations
#19
Yasodha Maheshi Rohanachandra, Dulangi Maneksha Amerasinghe Dahanayake, Swarna Wijetunge
Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/27373137/giant-congenital-melanocytic-nevus-in-a-bulgarian-newborn
#20
A A Chokoeva, M Fioranelli, M G Roccia, T Lotti, U Wollina, G Tchernev
Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant congenital melanocytic nevus on his back, as we discuss the diagnostic and treatment approach...
April 2016: Journal of Biological Regulators and Homeostatic Agents
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