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Child's Nervous System : ChNS :... Oct 2011Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with... (Review)
Review
INTRODUCTION
Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of "Dandy-Walker".
METHODS
An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed.
CONCLUSION
The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a "real" Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.
Topics: Cranial Fossa, Posterior; Dandy-Walker Syndrome; Endoscopy; Humans; Hydrocephalus; Magnetic Resonance Imaging; Ventriculostomy
PubMed: 21928031
DOI: 10.1007/s00381-011-1544-4 -
The Journal of the Association of... May 2008
Topics: Adolescent; Brain; Cerebral Ventriculography; Dandy-Walker Syndrome; Developmental Disabilities; Diagnosis, Differential; Humans; Male; Neurologic Examination; Tomography, X-Ray Computed
PubMed: 18700642
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2000
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Ginecologia Y Obstetricia de Mexico Aug 2012Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and... (Review)
Review
OBJECTIVE
Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and mega-cisterna magna. Our objective is clarify the differential diagnosis among these entities.
MATERIAL AND METHOD
Descriptive and retrospective study of Dandy-Walker cases diagnosed at our Department during the last five years plus a review of the related Medical literature.
RESULTS
Three cases of Dandy-Walker modalities are reported: one case of classic Dandy-Walker malformation, one case of Dandy-Walker variant, and one case of false Dandy-Walker. In the first two cases the patients underwent legal abortion, whereas in the last one a healthy male newborn was delivered in the week 38 of gestation.
CONCLUSIONS
Malformations in the posterior fossa, including Dandy-Walker syndrome, are still a challenge in prenatal diagnosis. Technical developments in imaging, such as in three-dimensional sonography and magnetic resonance, allow higher resolution and multiplanar images for an easier diagnose. There is a high rate of false positive, particularly before the 18th week of gestation. It is advisable not to establish a final diagnose before that week.
Topics: Adult; Dandy-Walker Syndrome; Diagnosis, Differential; Female; Humans; Retrospective Studies
PubMed: 23088073
DOI: No ID Found -
Journal of Child Neurology May 2010
Topics: Brain; Craniofacial Dysostosis; Dandy-Walker Syndrome; Humans; Infant, Newborn; Tomography, X-Ray Computed
PubMed: 20413808
DOI: 10.1177/0883073809349323 -
American Journal of Medical Genetics Apr 2001We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of...
We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain.
Topics: Cisterna Magna; Dandy-Walker Syndrome; Humans; Infant, Newborn; Male; Radiography; Syndrome
PubMed: 11298377
DOI: 10.1002/ajmg.1231 -
Indian Journal of Ophthalmology Jan 2019Ligneous conjunctivitis (LC) is a rare form of pseudomembranous conjunctivitis seen in children, perhaps due to plasminogen deficiency, which manifest as a chronic...
Ligneous conjunctivitis (LC) is a rare form of pseudomembranous conjunctivitis seen in children, perhaps due to plasminogen deficiency, which manifest as a chronic refractory pseudomembranous conjunctivitis. LC cases are incapable in maintaining their fibrinolytic activity due to plasminogen deficiency; consequently, transudates of plasma assume as a thick, gelatinous, woody membranes over the mucosal surfaces. This is a short case report on a child with a LC, who presented with recurrent pseudomembranous conjunctivitis in conjunction with progressive congenital hydrocephalus due to aqueductal stenosis (Dandy-Walker syndrome). This rare association was clinically confirmed and prompt corrective surgical measures were instituted.
Topics: Conjunctiva; Conjunctivitis; Dandy-Walker Syndrome; Humans; Infant; Male; Rare Diseases; Tomography, X-Ray Computed
PubMed: 30574926
DOI: 10.4103/ijo.IJO_772_18 -
The Pan African Medical Journal 2014
Topics: Adult; Craniocerebral Trauma; Dandy-Walker Syndrome; Headache; Humans; Male; Tomography, X-Ray Computed
PubMed: 25584127
DOI: 10.11604/pamj.2014.19.15.3974 -
American Journal of Medical Genetics.... Jul 2005We report on a fetus with a large deletion of the distal part of the long arm of chromosome 13, (del(13)(q14 --> qter)) congenital anomalies of the urinary system, lungs... (Review)
Review
We report on a fetus with a large deletion of the distal part of the long arm of chromosome 13, (del(13)(q14 --> qter)) congenital anomalies of the urinary system, lungs and extremities, and Dandy-Walker malformation (DWM). Although DWM has been associated with many chromosomal abnormalities and genetic syndromes, its relation to the distal 13q has been demonstrated recently. In 2002, McCormack et al., described two patients with deletions of the long arm of chromosome 13 who had multiple congenital abnormalities along with holoprosencephaly (HPE) and DWM. The phenotypic features and autopsy findings of a fetus with "distal 13q deletion syndrome" at 22 weeks gestation are discussed and comparison with the previous two cases is made. The findings support the previous hypothesis suggesting that haploinsufficiency at a locus within 13q22-33 due to microdeletions may be responsible for isolated DWM in some of the patients. Detailed examination of 13q (13q22-33) by means of conventional and molecular cytogenetic methods is necessary in cases with DWM.
Topics: Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 13; Dandy-Walker Syndrome; Fatal Outcome; Fetal Death; Fetus; Humans; Male; Syndrome
PubMed: 15948192
DOI: 10.1002/ajmg.a.30808 -
The Journal of the Association of... Oct 2016
Topics: Adult; Dandy-Walker Syndrome; Female; Humans
PubMed: 27766825
DOI: No ID Found