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Archives of Gynecology and Obstetrics 1994This is a report of a 18 year-old woman with two consecutive fetuses suffering from a Dandy-Walker malformation (DWM). The first diagnosis of Dandy-Walker syndrome was...
This is a report of a 18 year-old woman with two consecutive fetuses suffering from a Dandy-Walker malformation (DWM). The first diagnosis of Dandy-Walker syndrome was at 24 weeks gestation. According to the parent's request, this pregnancy was terminated. Seven months after that event a new case of Dandy-walker malformation was diagnosed in the same woman. She was at 21 weeks of gestation.
Topics: Abortion, Eugenic; Adolescent; Dandy-Walker Syndrome; Female; Humans; Male; Pregnancy; Pregnancy Trimester, Second; Recurrence; Risk Factors; Ultrasonography, Prenatal
PubMed: 7979570
DOI: 10.1007/BF02390945 -
Revista Chilena de Pediatria 2016Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation.
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. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome.
CONCLUSION
Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented.
Topics: Anticonvulsants; Child; Dandy-Walker Syndrome; Humans; Male; Prognosis; Seizures; Tomography, X-Ray Computed
PubMed: 26976079
DOI: 10.1016/j.rchipe.2016.01.011 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jan 2020To explore the genetic basis for a fetus with Dandy-Walker malformation.
OBJECTIVE
To explore the genetic basis for a fetus with Dandy-Walker malformation.
METHODS
G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.
RESULTS
SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.
CONCLUSION
The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.
Topics: Dandy-Walker Syndrome; Female; Fetus; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Pregnancy; Prenatal Diagnosis; Translocation, Genetic
PubMed: 31922586
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.003 -
Indian Pediatrics Jun 2000
Topics: Agenesis of Corpus Callosum; Dandy-Walker Syndrome; Epilepsies, Myoclonic; Female; Humans; Infant; Syndrome
PubMed: 10869154
DOI: No ID Found -
Pediatric Neurosurgery 2005Optimal treatment for hydrocephalus related to Dandy-Walker syndrome (DWS) remains elusive. Patients with DWS-related hydrocephalus often require combinations of... (Review)
Review
Optimal treatment for hydrocephalus related to Dandy-Walker syndrome (DWS) remains elusive. Patients with DWS-related hydrocephalus often require combinations of shunting systems to effectively drain both the supratentorial ventricles and posterior fossa cyst. We describe an endoscopic technique, whereby a frontally placed, single-catheter shunting system effectively drained the supratentorial and infratentorial compartments. This reduces the complexity and potential risk associated with the combined shunting systems required by so many with DWS-related hydrocephalus.
Topics: Catheterization; Cerebrospinal Fluid Shunts; Dandy-Walker Syndrome; Female; Humans; Hydrocephalus; Infant, Newborn; Neuroendoscopy; Neuronavigation
PubMed: 16195680
DOI: 10.1159/000087486 -
The Journal of Maternal-fetal &... Nov 2008Dandy-Walker syndrome (DWS) is a developmental malformation of the central nervous system characterized by complete or partial absence of the cerebellar vermis, the...
OBJECTIVE
Dandy-Walker syndrome (DWS) is a developmental malformation of the central nervous system characterized by complete or partial absence of the cerebellar vermis, the presence of a posterior fossa cyst, and ventriculomegaly. Although DWS can be seen with Mendelian and chromosomal disorders, the actual pathophysiologic mechanism responsible for the syndrome is unknown. The incidence of DWS is approximately 1-8/100,000 births. We have noted a higher than expected incidence of DWS in a population of twins referred as complicated monochorionic twins, to include twin-twin transfusion syndrome (TTTS). The purpose of this study was to assess the incidence of DWS in monochorionic twins.
METHODS
The database of all patients referred with complicated monochorionic twins was queried for the diagnosis of DWS. TTTS was defined sonographically as the combined presence of a maximum vertical pocket (MVP) of >or=8 cm in the recipient and
RESULTS
The data on 660 patients with monochorionic twin pregnancies were reviewed. DWS was seen in 10 (1.5%) patients (four TTTS, five IUGR, and one monoamniotic twin). The affected fetus was the smaller twin (donor or IUGR) in 8/10 cases (80%, p = 0.055, RR 1.64 (1.17-2.19)). DWS fetuses were more likely to be growth-restricted (7/10, 70% vs. 217/650, 33.4%, p = 0.03) than the non-DWS counterparts.
CONCLUSION
The incidence of DWS in complicated monochorionic twins is approximately 200 times higher than expected for singletons (p < 0.001). DWS is more likely to occur in the smaller twin of a twin pair and more likely to have growth restriction. These findings may assist in our understanding of the pathophysiologic mechanisms responsible for the development of DWS.
Topics: Dandy-Walker Syndrome; Female; Fetal Growth Retardation; Fetofetal Transfusion; Humans; Incidence; Pregnancy; Twins, Monozygotic; United States
PubMed: 18979394
DOI: 10.1080/14767050802302967 -
American Journal of Medical Genetics May 1991The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2...
The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.
Topics: Abnormalities, Multiple; Dandy-Walker Syndrome; Encephalocele; Female; Fingers; Genes, Recessive; Humans; Infant, Newborn; Male; Polycystic Kidney Diseases
PubMed: 2063927
DOI: 10.1002/ajmg.1320390218 -
Fetal Diagnosis and Therapy 2008To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies.
OBJECTIVES
To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies.
METHODS
Data for this study were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system.
RESULTS
The 196 cases of DWS had a high infant mortality rate (250/1,000), and the elevated risk correlated positively with additional anomalies in a dose-effect pattern (p for trend <0.01). Infants with DWS and two or more affected organ systems were about 6 times as likely to die postneonatally than their counterparts with isolated DWS [adjusted hazards ratio (AHR) = 6.01; 95% CI = 1.52-24.21].
CONCLUSION
This study confirms the widely held notion that DWS is a heterogeneous rather than a homogeneous entity as shown by the dissimilar infant survival patterns found.
Topics: Abnormalities, Multiple; Adult; Dandy-Walker Syndrome; Female; Humans; Infant; Infant Mortality; Infant, Newborn; Kaplan-Meier Estimate; Male; New York; Population Surveillance; Proportional Hazards Models; Registries; Risk Assessment; Time Factors
PubMed: 18648217
DOI: 10.1159/000142146 -
World Neurosurgery Apr 2020Dandy-Walker Syndrome (DWS) is a rare congenital brain malformation characterized by underdevelopment of cerebellar vermis and cystic enlargement of the fourth ventricle...
BACKGROUND
Dandy-Walker Syndrome (DWS) is a rare congenital brain malformation characterized by underdevelopment of cerebellar vermis and cystic enlargement of the fourth ventricle and enlargement of the posterior fossa. The cooccurrence of DWS and syringomyelia in adults is very rare.
CASE DESCRIPTION
We report a man aged 19 years who presented with a 2-year history of tremor. Magnetic resonance imaging showed cystic dilation of the fourth ventricle, hypoplasia of the cerebellar vermis, and syringomyelia. Posterior fossa decompression and spinal cord ostomy were performed. Tremor was markedly improved and the fourth ventricular and the syringomyelia were reduced in size postoperatively.
CONCLUSIONS
Tremor can be a clinical manifestation in patients of DWS concomitant with syringomyelia in adults. Spinal cord ostomy combined with posterior fossa decompression may be an effective approach for alleviation of symptoms and syringomyelia.
Topics: Cerebellar Vermis; Cranial Fossa, Posterior; Dandy-Walker Syndrome; Decompression, Surgical; Fourth Ventricle; Humans; Magnetic Resonance Imaging; Male; Neurosurgical Procedures; Ostomy; Spinal Cord; Syringomyelia; Tomography, X-Ray Computed; Treatment Outcome; Tremor; Young Adult
PubMed: 31954915
DOI: 10.1016/j.wneu.2020.01.045 -
AJNR. American Journal of Neuroradiology 1983The sonographic appearance of the Dandy-Walker malformation is not well known. Experience with sonography in the recognition of the Dandy-Walker syndrome in four...
The sonographic appearance of the Dandy-Walker malformation is not well known. Experience with sonography in the recognition of the Dandy-Walker syndrome in four neonates is presented. Three cases were discovered serendipitously: one during obstetric evaluation for uncertain gestational age and two in asymptomatic neonates. The typical sonographic features are a triangular posterior fossa cyst, a dilated aqueduct of Sylvius in communication with the cyst, elevation and hypoplasia of the cerebellum, and variable dilatation of the third and lateral ventricles. Sonography is often the first diagnostic procedure performed on these patients and can be very useful in recognizing the anomaly.
Topics: Dandy-Walker Syndrome; Diagnosis, Differential; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Ultrasonography
PubMed: 6419561
DOI: No ID Found