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AJNR. American Journal of Neuroradiology Oct 2022The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to...
BACKGROUND AND PURPOSE
The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development.
MATERIALS AND METHODS
In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses.
RESULTS
Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (< .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (> .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (< .01), but not prenatally (> .07).
CONCLUSIONS
As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.
Topics: Humans; Retrospective Studies; Dandy-Walker Syndrome; Cerebellum; Cysts; Neuroimaging; Magnetic Resonance Imaging; Cranial Fossa, Posterior
PubMed: 36137655
DOI: 10.3174/ajnr.A7659 -
BMC Pregnancy and Childbirth Jan 2023Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar...
BACKGROUND
Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar vermis, expansion of the fourth ventricle and posterior fossa cistern. The incidence is aboutapproximately 1/25000-1/35000. At present, the etiology and pathogenesis of DWS are not completely clear. It is mostly considered to be a multifactorial genetic disease that is related to both genetic factors and environmental factors. There is no large sample size analysis of the chromosomal profile of DWS up to now. This study aims to provide clinical reference for prenatal diagnosis via summarizing the clinical features and pregnancy outcomes of Dandy-Walker syndrome.
METHODS
A total of 76 cases of foetal Dandy-Walker syndrome out of 19,506 pregnant women underwent cordocentesis or amniocentesis for genetic detection. Rapid prenatal karyotyping, single nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs) were performed for prenatal genetic diagnosis. The results of ultrasonography, genetic analysis and pregnancy outcome were recorded.
RESULTS
Of the 76 cases, 19 were isolated DWS, while 57 cases were accompanied by other ultrasound-visible abnormalities. Ultrasound abnormalities of the CNS were most frequently observed, accompanied by DWS. Twenty-five out of 76 cases had chromosomal abnormalities, and the rate of chromosomal abnormalities increased in pregnant women of advanced maternal age or in combination with other ultrasound abnormalities. Of the 19 cases in the isolated DWS group, nine pregnant women chose to terminate the pregnancy, while seven cases continued the pregnancy and all infants were normal. Among the 57 pregnant women with pathological ultrasound manifestations other than foetal DWS, 44 chose to terminate the pregnancy, while 12 cases continued the pregnancy. Further follow-up revealed one newborn with postnatal neurodevelopmental delay. A female term neonate presented with very severe sensorineural deafness, and an infant died 7 days after birth with abnormal development of multiple organs.
CONCLUSIONS
Pregnant women with DWS in foetal ultrasonic examination should be offered a careful and comprehensive foetal ultrasound scan and further prenatal genetic testing including karyotype analysis and SNP-array. The prognosis of the foetus without chromosomal aberration is good in isolated DWS pregnancies but poor in nonisolated DWS pregnancies.
Topics: Female; Humans; Infant; Infant, Newborn; Pregnancy; Chromosome Aberrations; Dandy-Walker Syndrome; Nervous System Malformations; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 36653756
DOI: 10.1186/s12884-023-05367-1 -
General Psychiatry 2021Dandy-Walker syndrome (DWS) is a group of brain malformations which sometimes present with psychotic symptoms. We present the case of a patient diagnosed with...
Dandy-Walker syndrome (DWS) is a group of brain malformations which sometimes present with psychotic symptoms. We present the case of a patient diagnosed with Dandy-Walker variant who presented with schizophrenia-like psychosis. A man in his 30s was admitted to an acute psychiatric unit presenting with persecutory delusions, auditory hallucinations and violent behaviour. The MRI performed showed the typical alterations of Dandy-Walker variant: vermian hypoplasia and cystic dilatation of the fourth ventricle. He also suffered from mild intellectual disability. After being treated with olanzapine 10 mg/d for a month, his psychotic symptoms greatly improved and he was discharged. In conclusion, DWS may cause psychosis through a dysfunction in the circuit connecting prefrontal, thalamic and cerebellar areas. The association between these two conditions may contribute to the understanding of the aetiopathogenesis of schizophrenia.
PubMed: 33937630
DOI: 10.1136/gpsych-2020-100254 -
International Journal of Surgery Case... Jan 2022Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a...
INTRODUCTION
Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa causing upward displacement of tentorium and torcula. In this paper, we present a case of bilateral choanal atresia with Dandy-Walker Syndrome in a female newborn.
CASE PRESENTATION
We present a case of a female patient who was born at 38th weeks of gestation via emergency cesarean section due to non-reassuring cardiotocography and abnormal antenatal ultrasounds findings. The imaging revealed the presence of Dandy-walker malformation. The patient presented with cyanosis and respiratory distress. Bedside flexible nasoendoscopy revealed bilateral choanal atresia which is confirmed by computed tomography of sinuses. Endoscopic bilateral choanal atresia repair was performed. On postoperative follow up, nasal endoscopy showed bilateral intact flap and patent neochoana.
DISCUSSION AND CONCLUSION
Dandy-Walker syndrome is a congenital disorder that can be diagnosed prenatally. The syndrome is associated with multiple anomalies. However, there are few published reports of bilateral choanal atresia in Dandy-Walker Syndrome. Bilateral choanal atresia is considered a life-threatening condition in newborns that requires early surgical intervention.
PubMed: 34953427
DOI: 10.1016/j.ijscr.2021.106702 -
International Medical Case Reports... 2022Dandy-Walker syndrome (DWS) is a rare congenital malformation characterized by hypoplasia of the cerebellar vermis and its upward rotation and cystic enlargement of the...
Dandy-Walker syndrome (DWS) is a rare congenital malformation characterized by hypoplasia of the cerebellar vermis and its upward rotation and cystic enlargement of the fourth ventricle. The clinical manifestations include psychomotor retardation, ataxia and hydrocephalus. We report a case of 16-year-old female patient in Ali Abad Teaching Hospital who was suffering from unsteady gait, memory deterioration and urinary incontinence. A brain magnetic resonance imaging revealed enlarged cystic posterior fossa, dilated fourth ventricles and upward rotated cerebellar vermis which were indicating DWS. The patient prepared for planned surgical operation and a written informed consent was obtained from her parents for surgery and general anesthesia. A cystoperitoneal (CP) shunt was placed and then the patient transferred to recovery room. After recovery and hospital stay, the patient discharged with improved clinical symptoms.
PubMed: 35210871
DOI: 10.2147/IMCRJ.S350858 -
The Journal of International Medical... Apr 2019Dandy-Walker syndrome associated with syringomyelia is a rare condition, with few reports of adult cases. We describe an adult case of Dandy-Walker syndrome with... (Review)
Review
Dandy-Walker syndrome associated with syringomyelia is a rare condition, with few reports of adult cases. We describe an adult case of Dandy-Walker syndrome with concomitant syringomyelia. A 33-year-old man presented with a 3-month history of walking instability, numbness in the hands, memory deterioration, and urinary incontinence. A physical examination showed a positive Romberg sign. Brain computed tomography and magnetic resonance imaging showed hydrocephalus, a cyst in the posterior fossa, absence of the cerebellar vermis, hypoplasia of the corpus callosum and cerebella, and syringomyelia. All of these symptoms were consistent with the diagnosis of Dandy-Walker syndrome. Surgery involving arachnoid adhesiolysis and endoscopic third ventriculostomy was performed. At the 6-month follow-up, the symptoms were completely relieved. Magnetic resonance imaging showed that syringomyelia was greatly reduced and the hydrocephalus remained unchanged. Dandy-Walker syndrome with concomitant syringomyelia in adults is exceedingly rare. Early diagnosis and appropriate surgical treatment of this condition should be highlighted. Combined arachnoid adhesiolysis and endoscopic third ventriculostomy may be an effective approach.
Topics: Adult; Dandy-Walker Syndrome; Humans; Male; Prognosis; Syringomyelia
PubMed: 30799663
DOI: 10.1177/0300060518808961 -
Annals of Maxillofacial Surgery 2018It has been very aptly quoted, "Variety is the spice of life"; and so variations exist in all forms and kinds good or bad, and for the worst or the best! Mother nature...
It has been very aptly quoted, "Variety is the spice of life"; and so variations exist in all forms and kinds good or bad, and for the worst or the best! Mother nature in all her glory and beauty has been very generous, but what when she fails to provide? It is this very character of nature that gives us variations which sometimes manifest in a cruel way on the human body and gives us the eponym of syndromes. Dandy-Walker malformation is an abnormality of the central nervous system, which leads to hydrocephalus and is associated with other abnormalities. Neurologic symptoms are the norm in afflicted patients due to the inherent nature of the disease in that it affects the very center of human function-the brain. This article brings to you a very unique, challenging and rare case of a young patient with this debilitating disorder who was also affected with giant cell lesions of the maxilla and mandible along with cherubism. It highlights the unpredictable course and progression of the disease in a child and our unique protocol employed for the management of the same. It adds providence and a new perspective to the still ambiguous nature of this disorder and the unprecedented maxillofacial anomalies, i.e., giant cell lesions and Cherubism associated with the same.
PubMed: 29963440
DOI: 10.4103/ams.ams_34_16