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Dandy Walker

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...
October 18, 2016: American Journal of Medical Genetics. Part A
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
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...
September 23, 2016: Neurocase
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
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
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
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
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
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
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
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
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
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
Madita Schumann, Andrea Hofmann, Sophia K Krutzke, Alina C Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M Merz, Heiko Reutter
BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancies with prenatally detected isolated brain malformations. METHODS: Array-based molecular karyotyping was performed in a cohort of 35 terminated fetuses with isolated CNS malformations...
2016: Journal of Neurodevelopmental Disorders
Irene Rusu, Mrinali Patel Gupta, Samir N Patel, Erica Oltra, R V Paul Chan
We report the case of a 2-month-old girl with Dandy-Walker variant who presented with strabismus, pathologic myopia measuring -16.00 D in each eye, diffuse chorioretinal atrophy and pigment mottling in the macula of both eyes, and areas of retinal capillary nonperfusion in both eyes. The patient's brother also has Dandy-Walker variant and was found to have bilateral severe myopia, myopic fundi, tilted optic disks with peripapillary atrophy, extensive areas of white without pressure, areas of lattice degeneration, and several chronic-appearing atrophic retinal holes surrounded by pigmentation...
April 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
P Tranos, N Dervenis, S Kiouras
To describe a case of bilateral cystoid macular edema in a patient with Dandy-Walker syndrome. An 18-year-old male was referred to our tertiary referral center for evaluation of his decreased visual acuity. Detailed ophthalmic examination and imaging revealed the presence of bilateral cystoid macular edema, which was successfully treated with intravitreal triamcinolone injections (2 mg in 0.05 ml). Recurrence of macular edema developed after a period of approximately four months. This is an unusual ophthalmic manifestation of Dandy-Walker syndrome...
April 14, 2016: Seminars in Ophthalmology
Hyeyeun Lim, Charles W Beasley, Lawrence W Whitehead, Robert J Emery, A J Agopian, Peter H Langlois, Dorothy K Waller
BACKGROUND: An increasing number of radiologic exams are performed in the United States, but very few studies have examined the effects of maternal exposure to radiologic exams during the periconceptional period and birth defects. OBJECTIVES: To assess the association between maternal exposure to radiologic exams during the periconceptional period and 19 categories of birth defects using a large population-based study of birth defects. METHODS: We studied 27,809 case mothers and 10,200 control mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009...
July 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
José E Cueva-Núñez, Alejandra Lozano-Bustillo, Merlyn S Irias-Álvarez, Raúl F Vásquez-Montes, Douglas M Varela-González
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...
March 11, 2016: Revista Chilena de Pediatría
Saurabh Baliyan, Amit Arya, Sujita Kumar Kar
No abstract text is available yet for this article.
October 2015: Journal of Pediatric Neurosciences
Rashmi Singh, Neelam Dogra, Priyanka Jain, Santosh Choudhary
No abstract text is available yet for this article.
January 2016: Indian Journal of Anaesthesia
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