Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walkermalformation. Dandy-Walkermalformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential
An Acquired Form of Dandy-WalkerMalformation with Enveloping Hemosiderin Deposits Dandy-Walkermalformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis
Endoscopic Third Ventriculostomy versus Ventriculoperitoneal Shunt for Non-Communicating Hydrocephalus in Children with Dandy-WalkerMalformation: A Meta-Analysis PROSPERO International prospective register of systematic reviews Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review
Comparison of Ventriculoperitoneal Shunt, Endoscopic Third Ventriculostomy, and Cystoperitoneal Shunt for Dandy-WalkerMalformation Hydrocephalus: A Systematic Review and Network Meta-Analysis PROSPERO International prospective register of systematic reviews Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walkermalformation - a yet uncharacterized syndrome. An association of congenital diaphragmatic hernia, dandywalkermalformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandywalkermalformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-WalkerMalformation, and Wisconsin Syndrome Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walkermalformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including , , and . This patient provides further evidence for the role of and in Dandy-Walkermalformation and is the third reported case of Dandy-Walkermalformation to have associated corpus callosum
Dandy-WalkerMalformation Presenting with Psychological Manifestations Dandy-Walkermalformation, 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-Walkermalformation 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-Walkermalformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.
Dandy-WalkerMalformation Presenting with Affective Symptoms Dandy-Walkermalformation 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-Walkermalformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walkermalformation in the literature. Herein, a Dandy-Walkermalformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been
Dandy-WalkerMalformation: is the "tail sign" the key sign? The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walkermalformation. A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walkermalformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week
AP1S2 is mutated in X-linked Dandy-Walkermalformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walkermalformation and inconstant choreoathetosis. Four individuals
Changes in a cerebellar peduncle lesion in a patient with Dandy-Walkermalformation: A diffusion tensor imaging study We report a patient with severe ataxia due to Dandy-Walkermalformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched
Prenatal diagnosis of 'isolated' Dandy-Walkermalformation: imaging findings and prenatal counselling. The purpose of this article is to improve prenatal imaging diagnosis and counselling for cases of 'isolated' Dandy-Walkermalformation (DWM) in the light of recent literature, which has demonstrated a potential good clinical and intellectual outcome of fetuses presenting with DWM characterised
Posterior brain in fetuses with Dandy-Walkermalformation with complete agenesis of the cerebellar vermis at 11-13 weeks: a pilot study. This study aimed to measure the changes in the posterior brain in fetuses with Dandy-Walkermalformation (DWM) with complete agenesis of the cerebellar vermis between 11(+0) and 13(+6) weeks of gestation. In the midsagittal view, the brain stem (BS) diameter
disorders. The cerebellum's vulnerability to toxins, drugs, and traumatic brain injuries (TBIs) highlights its forensic relevance. Moreover, advancements in genetic diagnostics, such as next-generation sequencing and CRISPR-Cas9, are enhancing the understanding and treatment of genetic conditions like Joubert syndrome and Dandy-Walkermalformation. These findings emphasize the need for further research
was approximately 312-855 kb and encompassed TUBGCP5, CYFIP1, NIPA2, and NIPA1 genes. Twenty-five of the 37 fetuses with this microdeletion showed phenotypic abnormalities. The most common ultrasonic structural abnormality was congenital heart disease, followed by renal dysplasia and Dandy-Walkermalformation. The 15q11.2 BP1-BP2 microdeletion was inherited from the father and mother in 6 and 10 cases
ventriculomegaly, although these anomalies do not trulyrepresent dilation of the ventricular system.Structural abnormalities that can lead to dilation orenlargement of the lateral ventricles include agenesis of thecorpus callosum, Dandy-Walkermalformation, neural tubedefects, cortical defects, and migrational abnormalities orheterotopia. The most common cause of severe ven-triculomegaly is aqueductal stenosis