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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 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 1981
Review
Topics: Abnormalities, Multiple; Brain; Brain Diseases; Cerebral Angiography; Cerebrospinal Fluid Shunts; Cranial Fossa, Posterior; Cysts; Dandy-Walker Syndrome; Heart Atria; Humans; Hydrocephalus; Infant; Infant, Newborn; Peritoneal Cavity; Pneumoencephalography; Transillumination
PubMed: 7018140
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Dec 2023
Topics: Humans; Dandy-Walker Syndrome; Aortic Coarctation; Eye Abnormalities; Neurocutaneous Syndromes
PubMed: 38041632
DOI: 10.1002/uog.27526 -
Congenital Anomalies Dec 2007Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to... (Review)
Review
Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.
Topics: Chromosome Aberrations; Chromosomes; Dandy-Walker Syndrome; Female; Humans; Infant, Newborn; Pregnancy; Ultrasonography, Prenatal
PubMed: 17988252
DOI: 10.1111/j.1741-4520.2007.00158.x -
Canadian Journal of Ophthalmology.... Aug 2023
Topics: Humans; Adult; Dandy-Walker Syndrome; Eye; Face
PubMed: 36716793
DOI: 10.1016/j.jcjo.2023.01.008 -
Neuroradiology Jun 2023Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during... (Review)
Review
Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst.
Topics: Humans; Dandy-Walker Syndrome; Nevus, Pigmented; Melanosis; Neurocutaneous Syndromes; Magnetic Resonance Imaging
PubMed: 37093228
DOI: 10.1007/s00234-023-03150-9 -
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 -
Pediatric Neuroscience 1987The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected...
The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected fetus in utero. Since this view seemed contrary to our experience, we reviewed 19 patients with the Dandy-Walker syndrome diagnosed from 1966 to 1983. Thirteen patients with Dandy-Walker syndrome were diagnosed before 6 months of age and followed for more than 2 years (mean: 10 years). In the absence of other associated major abnormalities, 7 of 8 (88%) are functioning well and have attended regular schools. Two of these seven have had special help with isolated learning problems. None of these patients have significant motor disability. One additional patient with normal intellectual and motor function died of acute shunt malfunction. In the remaining 4 patients with Dandy-Walker-associated abnormalities, 3 (75%) have severe intellectual retardation and spastic cerebral palsy. Five of six patients (83%) with Dandy-Walker syndrome diagnosed after 6 months of age are normal. The outcome of patients with Dandy-Walker syndrome appears far better than previously reported.
Topics: Adolescent; Adult; Cerebrospinal Fluid Shunts; Child, Preschool; Cranial Fossa, Posterior; Dandy-Walker Syndrome; Female; Follow-Up Studies; Humans; Hydrocephalus; Infant; Infant, Newborn; Intellectual Disability; Male; Tomography, X-Ray Computed
PubMed: 3684815
DOI: 10.1159/000120300 -
Journal of Child Neurology Sep 2017Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. (Review)
Review
OBJECTIVE
Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities.
METHODS
Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports.
RESULTS
Diagnosis was most often set in <1 year old (40.6%) or >12 years old (27.8%). One-third of cases had a chromosomal abnormality or syndrome (n = 8 PHACE), 27% had a cardiovascular condition (n = 7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (n = 9 cataract); most common malignancy was nephroblastoma (n = 8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability.
CONCLUSION
The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years.
Topics: Comorbidity; Dandy-Walker Syndrome; Humans
PubMed: 28635420
DOI: 10.1177/0883073817712589 -
Zeitschrift Fur Kinderchirurgie : Organ... Dec 1990Ten cases of the Dandy-Walker syndrome are presented. The clinical manifestations are analyzed. Almost 80 percent of these children had associated anomalies. The...
Ten cases of the Dandy-Walker syndrome are presented. The clinical manifestations are analyzed. Almost 80 percent of these children had associated anomalies. The characteristic findings are based on the magnetic resonance image scan. Satisfactory treatment of our patients had mostly consisted in shunting the lateral ventricular system to the peritoneum. The incidence of the complications was high.
Topics: Abnormalities, Multiple; Cerebrospinal Fluid Shunts; Child, Preschool; Dandy-Walker Syndrome; Humans; Infant; Magnetic Resonance Imaging
PubMed: 2293527
DOI: 10.1055/s-2008-1042625