keyword
MENU ▼
Read by QxMD icon Read
search

Dandy Walker

keyword
https://www.readbyqxmd.com/read/28217162/a-rare-case-of-giant-occipital-meningocele-with-dandy-walker-syndrome-can-it-grow-bigger-than-this
#1
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
#2
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
#3
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
#4
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
#5
Marlena Leigh Sherman, Sharron Close, Brad Weselman
No abstract text is available yet for this article.
December 22, 2016: 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
#6
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...
November 7, 2016: 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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27264673/a-novel-rasopathy-caused-by-recurrent-de-novo-missense-mutations-in-ppp1cb-closely-resembles-noonan-syndrome-with-loose-anagen-hair
#15
Karen W Gripp, Kimberly A Aldinger, James T Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E Timms, William B Dobyns
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. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27215002/ophthalmic-profile-and-systemic-features-of-pediatric-facial-nerve-palsy
#16
Preeti Patil-Chhablani, Sowmya Murthy, Meenakshi Swaminathan
BACKGROUND: Facial nerve palsy (FNP) occurs less frequently in children as compared to adults but most cases are secondary to an identifiable cause. These children may have a variety of ocular and systemic features associated with the palsy and need detailed ophthalmic and systemic evaluation. METHODS: This was a retrospective chart review of all the cases of FNP below the age of 16 years, presenting to a tertiary ophthalmic hospital over the period of 9 years, from January 2000 to December 2008...
December 2015: Eye Science
https://www.readbyqxmd.com/read/27192891/22-5-mb-deletion-of-13q31-1-q34-associated-with-hpe-dwm-and-hscr-a-case-report-and-redefining-the-smallest-deleted-regions
#17
M Y Alp, A H Çebi, S Seyhan, A Cansu, H Aydin, M Ikbal
Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27152561/a-new-anatomic-variation-coexistence-of-both-dandy-walker-variant-and-ophthalmic-artery-originating-from-contralateral-internal-carotid-artery
#18
Hayri Ogul, Nuri Havan, Yusuf Gedikli, Berhan Pirimoglu, Mecit Kantarci
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. In MR angiography the authors observed this unusual variant of origin of OA and a complete occlusion of right internal carotid artery. To the authors' knowledge, this is the first patient who has coincidence of both Dandy-Walker variant and origin of OA from contralateral internal carotid artery...
June 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27106665/novel-sil1-nonstop-mutation-in-a-chinese-consanguineous-family-with-marinesco-sj%C3%A3-gren-syndrome-and-dandy-walker-syndrome
#19
Nan Gai, Chen Jiang, Yong-Yi Zou, Yu Zheng, De-Sheng Liang, Ling-Qian Wu
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development. SIL1, which is located at 5q31.2, is the only gene known to cause MSS. Dandy-Walker syndrome (DWS) is defined by hypoplasia, upward rotation of the cerebellar vermis, and cystic dilation of the fourth ventricle; however, its genetic pathogeny remains unclear. Here, we report a Chinese consanguineous family with MSS and DWS...
July 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27097514/-intravenous-sedation-and-repeated-the-same-day-general-anesthesia-for-a-school-age-boy-with-dandy-walker-syndrome-and-dentinogenesis
#20
Takashi Hitosugi, Masanori Tsukamoto, Shigeki Fujiwara, Takeshi Yokoyama
Dandy-Walker syndrome (DWS) is characterized by perfect or partial defect of the cerebellum vermis and cystic dilatation of the posterior fossa communicating with the fourth ventricle. Common clinical signs are mental retardation, cerebellar ataxia, and those of increased intracranial pressure (ICP). Associated congenital anomalies are craniofacial, cardiac, renal, and skeletal abnormalities. We experienced a case of intravenous sedation and six times of "the same day" general anesthesia for a school-aged boy (10-13 years old) with DWS and hypodentinogenesis...
March 2016: Masui. the Japanese Journal of Anesthesiology
keyword
keyword
57240
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"