Difference between revisions of "Dandy-Walker syndrome"

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{{SK}} [[Dandy-Walker Malformation]], [[Dandy-Walker Deformity]]
 
{{SK}} [[Dandy-Walker Malformation]], [[Dandy-Walker Deformity]]
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{| align="right"
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|[[File:450px-Dandy-Walker-Variante - MRT T2 sagittal.jpg|thumb|none|300px|Dandy-Walker Variant]]
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|}
 
==Overview==
 
==Overview==
 
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Dandy-Walker Syndrome occurs in [[utero]] due to disruption in the development of the [[cerebellar]] [[vermis]]. It is characterized by the presence of hypoplastic [[cerebellar]] [[vermis]], [[hydrocephalus]], and cystic dilation of [[fourth ventricle]]. It usually presents itself in the first year of life due to symptoms caused by [[hydrocephalus]]. [[MRI]] is the most important diagnostic tool and surgical placement of [[shunt]] is the mainstay of therapy to reduce the [[hydrocephalus]] and to minimize brain damage.
  
 
==Historical Perspective==
 
==Historical Perspective==
 
*The term Dandy-Walker Syndrome was introduced in 1954 by a German psychiatrist Clemens Benda in the light of the following discoveries,<ref name="Benda1954">{{cite journal|last1=Benda|first1=Clemens E.|title=The Dandy-Walker Syndrome or The So-Called Atresia of the Foramen Magendie*|journal=Journal of Neuropathology & Experimental Neurology|volume=13|issue=1|year=1954|pages=14–29|issn=1554-6578|doi=10.1093/jnen/13.1.14}}</ref>  
 
*The term Dandy-Walker Syndrome was introduced in 1954 by a German psychiatrist Clemens Benda in the light of the following discoveries,<ref name="Benda1954">{{cite journal|last1=Benda|first1=Clemens E.|title=The Dandy-Walker Syndrome or The So-Called Atresia of the Foramen Magendie*|journal=Journal of Neuropathology & Experimental Neurology|volume=13|issue=1|year=1954|pages=14–29|issn=1554-6578|doi=10.1093/jnen/13.1.14}}</ref>  
**In 1914, American neurosurgeon Walter Dandy and American pediatrician Kenneth Blackfan recognized the association between the partial or complete absence of [[cerebellar vermis]], [[hydrocephalus]], and fourth ventricular enlargement.<ref name="Dandy1914">{{cite journal|last1=Dandy|first1=Walter E.|title=AN EXPERIMENTAL, CLINICAL AND PATHOLOGICAL STUDY|journal=American Journal of Diseases of Children|volume=VIII|issue=6|year=1914|pages=406|issn=0096-8994|doi=10.1001/archpedi.1914.02180010416002}}</ref>  
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**In 1914, American neurosurgeon Walter Dandy and American pediatrician Kenneth Blackfan recognized the association between the partial or complete absence of [[cerebellar vermis]], [[hydrocephalus]], and fourth ventricular enlargement..<ref name="Dandy1914">{{cite journal|last1=Dandy|first1=Walter E.|title=AN EXPERIMENTAL, CLINICAL AND PATHOLOGICAL STUDY|journal=American Journal of Diseases of Children|volume=VIII|issue=6|year=1914|pages=406|issn=0096-8994|doi=10.1001/archpedi.1914.02180010416002}}</ref>  
 
**In 1942, Canadian-American neurosurgeon Arthur Earl Walker and American physician John Taggart contributed by highlighting the possible cause to be the maldevelopment of the foramen of Lushka and Magendie.<ref name="Taggart1942">{{cite journal|last1=Taggart|first1=John K.|title=CONGENITAL ATRESIA OF THE FORAMENS OF LUSCHKA AND MAGENDIE|journal=Archives of Neurology And Psychiatry|volume=48|issue=4|year=1942|pages=583|issn=0096-6754|doi=10.1001/archneurpsyc.1942.02290100083008}}</ref>
 
**In 1942, Canadian-American neurosurgeon Arthur Earl Walker and American physician John Taggart contributed by highlighting the possible cause to be the maldevelopment of the foramen of Lushka and Magendie.<ref name="Taggart1942">{{cite journal|last1=Taggart|first1=John K.|title=CONGENITAL ATRESIA OF THE FORAMENS OF LUSCHKA AND MAGENDIE|journal=Archives of Neurology And Psychiatry|volume=48|issue=4|year=1942|pages=583|issn=0096-6754|doi=10.1001/archneurpsyc.1942.02290100083008}}</ref>
 
*An English surgeon named John Bland Sutton was the first to describe the association of underdeveloped [[cerebellar vermis]], [[hydrocephalus]], and an enlarged [[posterior fossa]] in 1887.<ref name="Sutton1886">{{cite journal|last1=Sutton|first1=J. Bland|title=THE LATERAL RECESSES OF THE FOURTH VENTRICLE; THEIR RELATION TO CERTAIN CYSTS AND TUMOURS OF THE CEREBELLUM, AND TO OCCIPITAL MENINGOCELE|journal=Brain|volume=9|issue=3|year=1886|pages=352–361|issn=0006-8950|doi=10.1093/brain/9.3.352}}</ref>
 
*An English surgeon named John Bland Sutton was the first to describe the association of underdeveloped [[cerebellar vermis]], [[hydrocephalus]], and an enlarged [[posterior fossa]] in 1887.<ref name="Sutton1886">{{cite journal|last1=Sutton|first1=J. Bland|title=THE LATERAL RECESSES OF THE FOURTH VENTRICLE; THEIR RELATION TO CERTAIN CYSTS AND TUMOURS OF THE CEREBELLUM, AND TO OCCIPITAL MENINGOCELE|journal=Brain|volume=9|issue=3|year=1886|pages=352–361|issn=0006-8950|doi=10.1093/brain/9.3.352}}</ref>
  
 
==Classification==
 
==Classification==
*There is no established system for the [[classification]] of Dandy-Walker Syndrome.
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*There is no established system for the [[classification]] of Dandy-Walker Syndrome.  
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*However, Barkovich classified posterior fossa CSF collection into the following<ref name="BarkovichKjos1989">{{cite journal|last1=Barkovich|first1=AJ|last2=Kjos|first2=BO|last3=Norman|first3=D|last4=Edwards|first4=MS|title=Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging|journal=American Journal of Roentgenology|volume=153|issue=6|year=1989|pages=1289–1300|issn=0361-803X|doi=10.2214/ajr.153.6.1289}}</ref>
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:
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** '''Dandy-Walker Complex''': Includes [[malformation]] with intact communication between the [[fourth ventricle]] and [[posterior fossa]] [[CSF]] collection. Further divided into Type A and B depending on the [[cerebellar]] [[vermis]] visibility. In Type A, cerebellar vermis is [[hypoplastic]] and not visible or deformed and Type B cerebellar vermis is visible.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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**'''[[Posterior fossa]] [[arachnoid]] [[cyst]]''': The [[fourth ventricle]] does not have direct communication with [[posterior fossa]] [[CSF]] collection.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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**'''Prominent [[cisterna magna]]''': It is characterized by atrophic [[vermis]] and [[cerebellar vermis]] with [[cisterna magna]] and [[fourth ventricle]] enlargement without the enlargement of [[posterior fossa]].<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
  
 
==Pathophysiology==
 
==Pathophysiology==
 
*It is thought that Dandy-Walker Syndrome is the result of disruptions that occur during the development of [[cerebellar vermis]] leading to a [[fourth ventricle]] that is in continuation with the [[posterior fossa]] [[subarachnoid space]].<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>   
 
*It is thought that Dandy-Walker Syndrome is the result of disruptions that occur during the development of [[cerebellar vermis]] leading to a [[fourth ventricle]] that is in continuation with the [[posterior fossa]] [[subarachnoid space]].<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>   
*Embryonic development of [[cerebellum]] starts at week 5, it forms from the top part of [[metencephalon]]. The [[cerebellar hemisphere]] is formed from the forward surface of [[fourth ventricle]]. The lack of midline fusion of the [[cerebellar hemisphere]] by the 15th week of embryonic development results into underdeveloped [[cerebellar vermis]]. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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*Embryonic development of [[cerebellum]] starts at week 5, it forms from the top part of [[metencephalon]]. The [[cerebellar hemisphere]] is formed from the forward surface of [[fourth ventricle]]. The lack of midline fusion of the [[cerebellar hemisphere]] by the 15th week of embryonic development results into underdeveloped [[cerebellar vermis]]. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 
*The exact [[pathogenesis]] of [[hydrocephalus]] in Dandy-Walker Syndrome is not fully understood. Several factors could play a role in development of [[hydrocephalus]].  
 
*The exact [[pathogenesis]] of [[hydrocephalus]] in Dandy-Walker Syndrome is not fully understood. Several factors could play a role in development of [[hydrocephalus]].  
 
**The initial hypothesis of atresia of foramen of Luschka and Magendie as a possible cause is not well supported. It was found later that these foramens are patent in a large number of patients with [[DWM]] and [[hydrocephalus]] is not present at birth in more than 80% of patients diagnosed with DWM.  Moreover, the closure of one or two foramen can be compensated by presence of other foramens preventing collection of fluid.<ref name="TakamiShin2010">{{cite journal|last1=Takami|first1=Hirokazu|last2=Shin|first2=Masahiro|last3=Kuroiwa|first3=Masafumi|last4=Isoo|first4=Ayako|last5=Takahashi|first5=Kan|last6=Saito|first6=Nobuhito|title=Hydrocephalus associated with cystic dilation of the foramina of Magendie and Luschka|journal=Journal of Neurosurgery: Pediatrics|volume=5|issue=4|year=2010|pages=415–418|issn=1933-0707|doi=10.3171/2009.10.PEDS09179}}</ref>
 
**The initial hypothesis of atresia of foramen of Luschka and Magendie as a possible cause is not well supported. It was found later that these foramens are patent in a large number of patients with [[DWM]] and [[hydrocephalus]] is not present at birth in more than 80% of patients diagnosed with DWM.  Moreover, the closure of one or two foramen can be compensated by presence of other foramens preventing collection of fluid.<ref name="TakamiShin2010">{{cite journal|last1=Takami|first1=Hirokazu|last2=Shin|first2=Masahiro|last3=Kuroiwa|first3=Masafumi|last4=Isoo|first4=Ayako|last5=Takahashi|first5=Kan|last6=Saito|first6=Nobuhito|title=Hydrocephalus associated with cystic dilation of the foramina of Magendie and Luschka|journal=Journal of Neurosurgery: Pediatrics|volume=5|issue=4|year=2010|pages=415–418|issn=1933-0707|doi=10.3171/2009.10.PEDS09179}}</ref>
**Another hypothesis was proposed suggesting the outflow impairment to be distal to [[fourth ventricle]] outlets, possibly caused by [[inflammation]] of [[arachnoid mater]] causing outflow obstruction. Excisions of these obstructions have not been able to show whether impaired arachnoid absorption is involved, since the subarachnoid space always takes days to weeks to fill up following excision. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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**Another hypothesis was proposed suggesting the outflow impairment to be distal to [[fourth ventricle]] outlets, possibly caused by [[inflammation]] of [[arachnoid mater]] causing outflow obstruction. Excisions of these obstructions have not been able to show whether impaired arachnoid absorption is involved, since the subarachnoid space always takes days to weeks to fill up following excision. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
**[[Stenosis]] of [[aqueduct of Sylvius]] once suggested, does not seem to be the causing factor in [[pathogenesis]] of [[hydrocephalus]]. [[Shunts]] placed in the [[posterior fossa]] [[cyst]] almost always drain all above [[ventricles]]. Occasionally when it is present, it is functional [[stenosis]] caused by herniation of posterior fossa content. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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**[[Stenosis]] of [[aqueduct of Sylvius]] once suggested, does not seem to be the causing factor in [[pathogenesis]] of [[hydrocephalus]]. [[Shunts]] placed in the [[posterior fossa]] [[cyst]] almost always drain all above [[ventricles]]. Occasionally when it is present, it is functional [[stenosis]] caused by herniation of posterior fossa content. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
**Increased pressure in venous sinuses due to compression from the posterior fossa cyst could also contribute to the pathogenesis or worsening of [[hydrocephalus]], no evidence has been found so far.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
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**Increased pressure in venous sinuses due to compression from the posterior fossa cyst could also contribute to the pathogenesis or worsening of [[hydrocephalus]], no evidence has been found so far.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore| sufirst4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
**The importance of understanding the [[pathogenesis]] of [[hydrocephalus]] in Dandy-Walker Syndrome forms the basis of choosing most appropriate [[treatment]].  
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**The importance of understanding the [[pathogenesis]] of [[hydrocephalus]] in Dandy-Walker Syndrome forms the basis of choosing most appropriate [[treatment]].
  
 
==Causes==
 
==Causes==
  
*Several etiologic factors can lead to Dandy-Walker Syndrome, it is the time (4th to 7th embryonic week) and duration of insult that has more influence on the occurrence of disease rather than the type of causative factor. <ref name="Jaspan2008">{{cite journal|last1=Jaspan|first1=Tim|title=New concepts on posterior fossa malformations|journal=Pediatric Radiology|volume=38|issue=S3|year=2008|pages=409–414|issn=0301-0449|doi=10.1007/s00247-008-0848-3}}</ref>
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*Several etiologic factors can lead to Dandy-Walker Syndrome, it is the time (4th to 7th embryonic week) and duration of insult that has more influence on the occurrence of disease rather than the type of causative factor.<ref name="Jaspan2008">{{cite journal|last1=Jaspan|first1=Tim|title=New concepts on posterior fossa malformations|journal=Pediatric Radiology|volume=38|issue=S3|year=2008|pages=409–414|issn=0301-0449|doi=10.1007/s00247-008-0848-3}}</ref>
 
*Mendelian conditions like [[Walker-Warburg Syndrome]], [[Mohr Syndrome]], [[Meckel-Gruber Syndrome]] are associated with Dandy-Walker Malformation. <ref name="MurrayJohnson2008">{{cite journal|last1=Murray|first1=Jeffrey C.|last2=Johnson|first2=Jennifer A.|last3=Bird|first3=Thomas D.|title=Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks|journal=Clinical Genetics|volume=28|issue=4|year=2008|pages=272–283|issn=00099163|doi=10.1111/j.1399-0004.1985.tb00401.x}}</ref>
 
*Mendelian conditions like [[Walker-Warburg Syndrome]], [[Mohr Syndrome]], [[Meckel-Gruber Syndrome]] are associated with Dandy-Walker Malformation. <ref name="MurrayJohnson2008">{{cite journal|last1=Murray|first1=Jeffrey C.|last2=Johnson|first2=Jennifer A.|last3=Bird|first3=Thomas D.|title=Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks|journal=Clinical Genetics|volume=28|issue=4|year=2008|pages=272–283|issn=00099163|doi=10.1111/j.1399-0004.1985.tb00401.x}}</ref>
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*Genetic factors that are associated with DWM [[phenotype]] include:
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**[[Trisomy 18]], [[triploidy]] and [[trisomy 13]] most commonly.
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**First molecularly defined cause is the [[Z1C1]] and [[Z1C4]] [[heterozygous]] deletion on chromosome 3q24.
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**Second DWM-linked locus is the deletion or duplication of [[FOXC1]] gene on 6p25.3.
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**Deletions on the long arm of chromosome 13.
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*Environmental factors include [[prenatal]] exposure to [[rubella]], [[cytomegalovirus]], [[toxoplasmosis]], [[coumadin]], [[alcohol]] and maternal [[diabetes]].<ref name="MurrayJohnson2008">{{cite journal|last1=Murray|first1=Jeffrey C.|last2=Johnson|first2=Jennifer A.|last3=Bird|first3=Thomas D.|title=Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks|journal=Clinical Genetics|volume=28|issue=4|year=2008|pages=272–283|issn=00099163|doi=10.1111/j.1399-0004.1985.tb00401.x}}</ref>
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==Differentiating Dandy-Walker Syndrome from other Diseases==
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*Dandy-Walker Syndrome must be differentiated from [[Blake's pouch cyst]], [[mega cisterna magna]], and [[posterior fossa arachnoid cyst]].
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*'''Blake's pouch cyst''' occurs if invagination of the [[fourth ventricle]] fails to rupture by the fourth month of gestation. The disease differs from Dandy-Walker Syndrome due to the following features<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>:
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**The [[cerebellum]] is not hypoplastic, though it may be compressed by the enlarged posterior fossa (mass effect).
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**The [[cerebellar tentorium]]/confluence of sinuses is not raised.
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**[[Hydrocephalus]], if present involves all four ventricles.
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*'''Mega cisterna magna''' occurs due to delay in rupture of the [[fourth ventricle]] invagination. The disease differs from Dandy-Walker Syndrome due to the following features<ref name="BosemaniOrman2015">{{cite journal|last1=Bosemani|first1=Thangamadhan|last2=Orman|first2=Gunes|last3=Boltshauser|first3=Eugen|last4=Tekes|first4=Aylin|last5=Huisman|first5=Thierry A. G. M.|last6=Poretti|first6=Andrea|title=Congenital Abnormalities of the Posterior Fossa|journal=RadioGraphics|volume=35|issue=1|year=2015|pages=200–220|issn=0271-5333|doi=10.1148/rg.351140038}}</ref>:
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**The [[cerebellum]] is not usually [[hypoplastic]].
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**The [[fourth ventricle]] is of relatively normal shape.
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**[[Hydrocephalus]] is uncommon.
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*'''Posterior fossa [[arachnoid]] cyst''' is a collection of [[cerebrospinal fluid]] in the [[arachnoid mater]]. The disease differs from Dandy-Walker Syndrome due to the following features<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref><ref name="BosemaniOrman2015">{{cite journal|last1=Bosemani|first1=Thangamadhan|last2=Orman|first2=Gunes|last3=Boltshauser|first3=Eugen|last4=Tekes|first4=Aylin|last5=Huisman|first5=Thierry A. G. M.|last6=Poretti|first6=Andrea|title=Congenital Abnormalities of the Posterior Fossa|journal=RadioGraphics|volume=35|issue=1|year=2015|pages=200–220|issn=0271-5333|doi=10.1148/rg.351140038}}</ref>:
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**The [[cyst]] is clearly localized in a specific location separate from the fourth ventricle outlets.
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**The [[cerebellum]] is not hypoplastic, though it may be compressed by the [[cyst]] (mass effect).
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**The [[CSF]] flow in the [[cyst]] is not continuous with that of the [[fourth ventricle]].
 +
**[[Hydrocephalus]], if it occurs, is due to the [[cyst]] pressing on the [[cerebellum]] and compressing the [[cerebral aqueduct]] or [[fourth ventricle]] outlets.
 +
 +
==Epidemiology and Demographics==
 +
*The [[prevalence]] of Dandy-Walker Syndrome is approximately 1 in 25,000 to 1 in 30,000 live births.<ref name="StambolliuIoakeim-Ioannidou2017">{{cite journal|last1=Stambolliu|first1=Emelina|last2=Ioakeim-Ioannidou|first2=Myrsini|last3=Kontokostas|first3=Kimonas|last4=Dakoutrou|first4=Maria|last5=Kousoulis|first5=Antonis A.|title=The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports|journal=Journal of Child Neurology|volume=32|issue=10|year=2017|pages=886–902|issn=0883-0738|doi=10.1177/0883073817712589}}</ref>
 +
*Slight female predominance is observed.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
*Dandy-Walker Syndrome is the underlying cause of 1% to 4% of cases of [[hydrocephalus]].<ref name="HirschPierre-Kahn1984">{{cite journal|last1=Hirsch|first1=Jean-François|last2=Pierre-Kahn|first2=Alain|last3=Renier|first3=Dominique|last4=Sainte-Rose|first4=Christian|last5=Hoppe-Hirsch|first5=Elizabeth|title=The Dandy-Walker malformation|journal=Journal of Neurosurgery|volume=61|issue=3|year=1984|pages=515–522|issn=0022-3085|doi=10.3171/jns.1984.61.3.0515}}</ref>
 +
*There is no established [[racial]] predilection to Dandy-Walker Syndrome.<ref name="ReederBotto2015">{{cite journal|last1=Reeder|first1=Matthew R.|last2=Botto|first2=Lorenzo D.|last3=Keppler-Noreuil|first3=Kim M.|last4=Carey|first4=John C.|last5=Byrne|first5=Janice L. B.|last6=Feldkamp|first6=Marcia L.|title=Risk factors for Dandy-Walker malformation: A population-based assessment|journal=American Journal of Medical Genetics Part A|volume=167|issue=9|year=2015|pages=2009–2016|issn=15524825|doi=10.1002/ajmg.a.37124}}</ref>
 +
 +
==Risk Factors==
 +
 +
*There are no established [[risk factors]] for Dandy-Walker Syndrome. However, non-Hispanic black [[ethnicity]] and history of [[infertility]] were seen to increase the risk of DWM, further research is required. <ref name="ReederBotto2015">{{cite journal|last1=Reeder|first1=Matthew R.|last2=Botto|first2=Lorenzo D.|last3=Keppler-Noreuil|first3=Kim M.|last4=Carey|first4=John C.|last5=Byrne|first5=Janice L. B.|last6=Feldkamp|first6=Marcia L.|title=Risk factors for Dandy-Walker malformation: A population-based assessment|journal=American Journal of Medical Genetics Part A|volume=167|issue=9|year=2015|pages=2009–2016|issn=15524825|doi=10.1002/ajmg.a.37124}}</ref>
 +
 +
==Screening==
 +
 +
*There is insufficient evidence to recommend routine [[screening]] for [[DWM]].
 +
 +
==Natural History, Complications, and Prognosis==
 +
 +
*If left untreated, [[patients]] with Dandy-Walker Syndrome may progress to develop severe neurologic deficits. Fifty percent of patients affected die before reaching the third year of life. The 20-23% of patients that reach adult life will have auditory, visual, and motor deficits.<ref name="ChumasTyagi2001">{{cite journal|last1=Chumas|first1=P|last2=Tyagi|first2=A|last3=Livingston|first3=J|title=Hydrocephalus---what's new?|journal=Archives of Disease in Childhood - Fetal and Neonatal Edition|volume=85|issue=3|year=2001|pages=149F–154|issn=1359-2998|doi=10.1136/fn.85.3.F149}}</ref>
 +
*Other possible [[complications]] include [[malformations]] of gastrointestinal, face, limb, heart, and genitourinary system.
 +
*[[Prognosis]] is generally poor if [[hydrocephalus]] is left untreated.
 +
 +
==Diagnosis==
 +
 +
'''Diagnostic Study of Choice'''
 +
* [[MRI]] is the [[diagnostic]] study of choice.<ref name="KleinPierre-Kahn2003">{{cite journal|last1=Klein|first1=O.|last2=Pierre-Kahn|first2=A.|last3=Boddaert|first3=N.|last4=Parisot|first4=D.|last5=Brunelle|first5=F.|title=Dandy-Walker malformation: prenatal diagnosis and prognosis|journal=Child's Nervous System|volume=19|issue=7-8|year=2003|pages=484–489|issn=0256-7040|doi=10.1007/s00381-003-0782-5}}</ref>
 +
 +
'''History and Symptoms'''
 +
* The majority of the patients (up to 85%) present in the first year of life with signs and symptoms of increased [[intracranial pressure]] such as irritability, increased head circumference, vomiting, [[convulsions]].<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
 +
'''Physical Examination'''
 +
*Signs of [[hydrocephalus]] in infants include increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes (known as "sunsetting eyes"), and [[seizures]].
 +
 +
'''Laboratory Findings'''
 +
*There are no diagnostic laboratory findings associated with Dandy-Walker Syndrome.
 +
 +
'''Electrocardiogram'''
 +
*There are no [[ECG]] findings associated with Dandy-Walker Syndrome.
 +
 +
'''X-ray'''
 +
*There are no [[x-ray]] findings associated with Dandy-Walker Syndrome.
 +
 +
'''Echocardiography or Ultrasound'''
 +
*There are no [[echocardiography]] findings associated with Dandy-Walker Syndrome.
 +
*Fetal 3D [[ultrasound]] can suspect [[posterior fossa]] malformation as early as 14 weeks of [[gestation]]. However, it should be confirmed by a fetal [[MRI]].<ref name="StamatianKovacs2015">{{cite journal|last1=Stamatian|first1=Florin|last2=Kovacs|first2=Tunde|last3=Boitor-Borza|first3=Dan|title=Transvaginal Three-dimensional Sonographic Assessment of the Embryonic Brain: A Pilot Study|journal=Medicine and Pharmacy Reports|volume=88|issue=2|year=2015|pages=152–158|issn=2668-0572|doi=10.15386/cjmed-437}}</ref>
 +
 +
'''CT scan'''
 +
*If [[MRI]] is unavailable then [[CT]] may be used, but it is less detailed.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
*It is suggested that a suspected [[diagnosis]] based on CT should be confirmed by performing an [[MRI]].<ref name="KleinPierre-Kahn2003">{{cite journal|last1=Klein|first1=O.|last2=Pierre-Kahn|first2=A.|last3=Boddaert|first3=N.|last4=Parisot|first4=D.|last5=Brunelle|first5=F.|title=Dandy-Walker malformation: prenatal diagnosis and prognosis|journal=Child's Nervous System|volume=19|issue=7-8|year=2003|pages=484–489|issn=0256-7040|doi=10.1007/s00381-003-0782-5}}</ref>
 +
 +
'''MRI'''
 +
*An [[MRI]] is the most important imaging modality in diagnosing Dandy-Walker Syndrome due to its superior [[anatomic]] resolution and [[multiplanar]] imaging.<ref name="KleinPierre-Kahn2003">{{cite journal|last1=Klein|first1=O.|last2=Pierre-Kahn|first2=A.|last3=Boddaert|first3=N.|last4=Parisot|first4=D.|last5=Brunelle|first5=F.|title=Dandy-Walker malformation: prenatal diagnosis and prognosis|journal=Child's Nervous System|volume=19|issue=7-8|year=2003|pages=484–489|issn=0256-7040|doi=10.1007/s00381-003-0782-5}}</ref>
 +
 +
'''Other Imaging Findings'''
 +
*There are no other imaging findings associated with Dandy-Walker Syndrome.
 +
 +
'''Other Diagnostic Studies'''
 +
*There are no other diagnostic studies associated with Dandy-Walker Syndrome.
 +
 +
==Treatment==
 +
 +
'''Medical Therapy'''
 +
*There is no available medical therapy for Dandy-Walker Syndrome.
 +
 +
'''Surgery'''
 +
* The mainstay of treatment is to reduce the [[hydrocephalus]] and [[posterior fossa]] enlargement.
 +
*Shunt placement is the treatment of choice at the moment to achieve this goal.
 +
*Superiority of the type of [[shunt]] over the other is not well established. Types of shunts in question are,
 +
**Ventriculoperitoneal (VP): Supratentorial shunt
 +
***Drains [[lateral ventricles]]. It is a [[supratentorial]] [[shunt]].
 +
***Easier to place.
 +
***Low incidence of migration/malposition.
 +
***Early decompression of [[supratentorial]] compartment, therefore preferred by some authors.
 +
***Lower rate of complications overall.
 +
***Less effective in DWM due to the [[infratentorial]] collection of fluid.
 +
**Cystoperitoneal (CP):
 +
***Drains both, [[lateral ventricles]] and [[fourth ventricle]] provided the aqueduct is patent, which can be determined by pre-procedural imaging. It is an infratentorial shunt.
 +
***Higher incidence of migration/malposition <ref name="DomingoPeter1996">{{cite journal|last1=Domingo|first1=Zayne|last2=Peter|first2=Jonathan|title=Midline Developmental Abnormalities of the Posterior Fossa: Correlation of Classification with Outcome|journal=Pediatric Neurosurgery|volume=24|issue=3|year=1996|pages=111–118|issn=1016-2291|doi=10.1159/000121026}}</ref> and overdrainage. Overdrainage can cause [[cerebral herniation]], it is recommended to use flow regulating or anti-syphon valve. <ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
*** Other [[complications]] include [[brain stem tethering]]<ref name="LiuCiacci1995">{{cite journal|last1=Liu|first1=John C.|last2=Ciacci|first2=Joseph D.|last3=George|first3=Timothy M.|title=Brainstem tethering in Dandy—Walker syndrome: a complication of cystoperitoneal shunting|journal=Journal of Neurosurgery|volume=83|issue=6|year=1995|pages=1072–1074|issn=0022-3085|doi=10.3171/jns.1995.83.6.1072}}</ref> and [[subdural hematoma]]<ref name="BindalStorrs1990">{{cite journal|last1=Bindal|first1=Ajay K.|last2=Storrs|first2=Bruce B.|last3=McLone|first3=David G.|title=Management of the Dandy-Walker Syndrome|journal=Pediatric Neurosurgery|volume=16|issue=3|year=1990|pages=163–169|issn=1423-0305|doi=10.1159/000120518}}</ref>.
 +
**Combined VP/CP shunt: Some authors prefer this procedure as it equalizes supratentorial and infratentorial pressure, especially in cases with functional aqueductal stenosis.<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
 +
*[[Supratentotial]] shunts are overall more successful in the long term than [[infratentorial]].<ref>{{cite journal|doi=10.1227/01.neu.0000088810.75724.0e.}}</ref>
 +
*Other procedure includes [[endoscopic third ventriculostomy]] (ETV).<ref name="SpennatoMirone2011">{{cite journal|last1=Spennato|first1=Pietro|last2=Mirone|first2=Giuseppe|last3=Nastro|first3=Anna|last4=Buonocore|first4=Maria Consiglio|last5=Ruggiero|first5=Claudio|last6=Trischitta|first6=Vincenzo|last7=Aliberti|first7=Ferdinando|last8=Cinalli|first8=Giuseppe|title=Hydrocephalus in Dandy–Walker malformation|journal=Child's Nervous System|volume=27|issue=10|year=2011|pages=1665–1681|issn=0256-7040|doi=10.1007/s00381-011-1544-4}}</ref>
 +
 +
 +
'''Primary Prevention'''
 +
*There are no established measures for the [[primary prevention]] of Dandy-Walker Syndrome.
 +
 +
'''Secondary Prevention'''
 +
*Reducing the [[hydrocephalus]] and [[posterior fossa]] enlargement decreases the progression of brain damage and slows the progression of complications.
  
=References==
+
==References==
 +
<references />

Latest revision as of 15:20, 20 June 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S[2]

Synonyms and Keywords: Dandy-Walker Malformation, Dandy-Walker Deformity

Dandy-Walker Variant

Overview

Dandy-Walker Syndrome occurs in utero due to disruption in the development of the cerebellar vermis. It is characterized by the presence of hypoplastic cerebellar vermis, hydrocephalus, and cystic dilation of fourth ventricle. It usually presents itself in the first year of life due to symptoms caused by hydrocephalus. MRI is the most important diagnostic tool and surgical placement of shunt is the mainstay of therapy to reduce the hydrocephalus and to minimize brain damage.

Historical Perspective

  • The term Dandy-Walker Syndrome was introduced in 1954 by a German psychiatrist Clemens Benda in the light of the following discoveries,[1]
    • In 1914, American neurosurgeon Walter Dandy and American pediatrician Kenneth Blackfan recognized the association between the partial or complete absence of cerebellar vermis, hydrocephalus, and fourth ventricular enlargement..[2]
    • In 1942, Canadian-American neurosurgeon Arthur Earl Walker and American physician John Taggart contributed by highlighting the possible cause to be the maldevelopment of the foramen of Lushka and Magendie.[3]
  • An English surgeon named John Bland Sutton was the first to describe the association of underdeveloped cerebellar vermis, hydrocephalus, and an enlarged posterior fossa in 1887.[4]

Classification

  • There is no established system for the classification of Dandy-Walker Syndrome.
  • However, Barkovich classified posterior fossa CSF collection into the following[5]

Pathophysiology

  • It is thought that Dandy-Walker Syndrome is the result of disruptions that occur during the development of cerebellar vermis leading to a fourth ventricle that is in continuation with the posterior fossa subarachnoid space.[6]
  • Embryonic development of cerebellum starts at week 5, it forms from the top part of metencephalon. The cerebellar hemisphere is formed from the forward surface of fourth ventricle. The lack of midline fusion of the cerebellar hemisphere by the 15th week of embryonic development results into underdeveloped cerebellar vermis. [6]
  • The exact pathogenesis of hydrocephalus in Dandy-Walker Syndrome is not fully understood. Several factors could play a role in development of hydrocephalus.
    • The initial hypothesis of atresia of foramen of Luschka and Magendie as a possible cause is not well supported. It was found later that these foramens are patent in a large number of patients with DWM and hydrocephalus is not present at birth in more than 80% of patients diagnosed with DWM. Moreover, the closure of one or two foramen can be compensated by presence of other foramens preventing collection of fluid.[7]
    • Another hypothesis was proposed suggesting the outflow impairment to be distal to fourth ventricle outlets, possibly caused by inflammation of arachnoid mater causing outflow obstruction. Excisions of these obstructions have not been able to show whether impaired arachnoid absorption is involved, since the subarachnoid space always takes days to weeks to fill up following excision. [6]
    • Stenosis of aqueduct of Sylvius once suggested, does not seem to be the causing factor in pathogenesis of hydrocephalus. Shunts placed in the posterior fossa cyst almost always drain all above ventricles. Occasionally when it is present, it is functional stenosis caused by herniation of posterior fossa content. [6]
    • Increased pressure in venous sinuses due to compression from the posterior fossa cyst could also contribute to the pathogenesis or worsening of hydrocephalus, no evidence has been found so far.[6]
    • The importance of understanding the pathogenesis of hydrocephalus in Dandy-Walker Syndrome forms the basis of choosing most appropriate treatment.

Causes

Differentiating Dandy-Walker Syndrome from other Diseases

  • Blake's pouch cyst occurs if invagination of the fourth ventricle fails to rupture by the fourth month of gestation. The disease differs from Dandy-Walker Syndrome due to the following features[6]:
    • The cerebellum is not hypoplastic, though it may be compressed by the enlarged posterior fossa (mass effect).
    • The cerebellar tentorium/confluence of sinuses is not raised.
    • Hydrocephalus, if present involves all four ventricles.

Epidemiology and Demographics

  • The prevalence of Dandy-Walker Syndrome is approximately 1 in 25,000 to 1 in 30,000 live births.[11]
  • Slight female predominance is observed.[6]
  • Dandy-Walker Syndrome is the underlying cause of 1% to 4% of cases of hydrocephalus.[12]
  • There is no established racial predilection to Dandy-Walker Syndrome.[13]

Risk Factors

  • There are no established risk factors for Dandy-Walker Syndrome. However, non-Hispanic black ethnicity and history of infertility were seen to increase the risk of DWM, further research is required. [13]

Screening

  • There is insufficient evidence to recommend routine screening for DWM.

Natural History, Complications, and Prognosis

  • If left untreated, patients with Dandy-Walker Syndrome may progress to develop severe neurologic deficits. Fifty percent of patients affected die before reaching the third year of life. The 20-23% of patients that reach adult life will have auditory, visual, and motor deficits.[14]
  • Other possible complications include malformations of gastrointestinal, face, limb, heart, and genitourinary system.
  • Prognosis is generally poor if hydrocephalus is left untreated.

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • The majority of the patients (up to 85%) present in the first year of life with signs and symptoms of increased intracranial pressure such as irritability, increased head circumference, vomiting, convulsions.[6]

Physical Examination

  • Signs of hydrocephalus in infants include increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes (known as "sunsetting eyes"), and seizures.

Laboratory Findings

  • There are no diagnostic laboratory findings associated with Dandy-Walker Syndrome.

Electrocardiogram

  • There are no ECG findings associated with Dandy-Walker Syndrome.

X-ray

  • There are no x-ray findings associated with Dandy-Walker Syndrome.

Echocardiography or Ultrasound

CT scan

  • If MRI is unavailable then CT may be used, but it is less detailed.[6]
  • It is suggested that a suspected diagnosis based on CT should be confirmed by performing an MRI.[15]

MRI

  • An MRI is the most important imaging modality in diagnosing Dandy-Walker Syndrome due to its superior anatomic resolution and multiplanar imaging.[15]

Other Imaging Findings

  • There are no other imaging findings associated with Dandy-Walker Syndrome.

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Dandy-Walker Syndrome.

Treatment

Medical Therapy

  • There is no available medical therapy for Dandy-Walker Syndrome.

Surgery

  • The mainstay of treatment is to reduce the hydrocephalus and posterior fossa enlargement.
  • Shunt placement is the treatment of choice at the moment to achieve this goal.
  • Superiority of the type of shunt over the other is not well established. Types of shunts in question are,
    • Ventriculoperitoneal (VP): Supratentorial shunt
    • Cystoperitoneal (CP):
    • Combined VP/CP shunt: Some authors prefer this procedure as it equalizes supratentorial and infratentorial pressure, especially in cases with functional aqueductal stenosis.[6]


Primary Prevention

Secondary Prevention

  • Reducing the hydrocephalus and posterior fossa enlargement decreases the progression of brain damage and slows the progression of complications.

References

  1. Benda, Clemens E. (1954). "The Dandy-Walker Syndrome or The So-Called Atresia of the Foramen Magendie*". Journal of Neuropathology & Experimental Neurology. 13 (1): 14–29. doi:10.1093/jnen/13.1.14. ISSN 1554-6578.
  2. Dandy, Walter E. (1914). "AN EXPERIMENTAL, CLINICAL AND PATHOLOGICAL STUDY". American Journal of Diseases of Children. VIII (6): 406. doi:10.1001/archpedi.1914.02180010416002. ISSN 0096-8994.
  3. Taggart, John K. (1942). "CONGENITAL ATRESIA OF THE FORAMENS OF LUSCHKA AND MAGENDIE". Archives of Neurology And Psychiatry. 48 (4): 583. doi:10.1001/archneurpsyc.1942.02290100083008. ISSN 0096-6754.
  4. Sutton, J. Bland (1886). "THE LATERAL RECESSES OF THE FOURTH VENTRICLE; THEIR RELATION TO CERTAIN CYSTS AND TUMOURS OF THE CEREBELLUM, AND TO OCCIPITAL MENINGOCELE". Brain. 9 (3): 352–361. doi:10.1093/brain/9.3.352. ISSN 0006-8950.
  5. Barkovich, AJ; Kjos, BO; Norman, D; Edwards, MS (1989). "Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging". American Journal of Roentgenology. 153 (6): 1289–1300. doi:10.2214/ajr.153.6.1289. ISSN 0361-803X.
  6. 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 6.11 6.12 6.13 6.14 6.15 Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore, Maria Consiglio; Ruggiero, Claudio; Trischitta, Vincenzo; Aliberti, Ferdinando; Cinalli, Giuseppe (2011). "Hydrocephalus in Dandy–Walker malformation". Child's Nervous System. 27 (10): 1665–1681. doi:10.1007/s00381-011-1544-4. ISSN 0256-7040.
  7. Takami, Hirokazu; Shin, Masahiro; Kuroiwa, Masafumi; Isoo, Ayako; Takahashi, Kan; Saito, Nobuhito (2010). "Hydrocephalus associated with cystic dilation of the foramina of Magendie and Luschka". Journal of Neurosurgery: Pediatrics. 5 (4): 415–418. doi:10.3171/2009.10.PEDS09179. ISSN 1933-0707.
  8. Jaspan, Tim (2008). "New concepts on posterior fossa malformations". Pediatric Radiology. 38 (S3): 409–414. doi:10.1007/s00247-008-0848-3. ISSN 0301-0449.
  9. 9.0 9.1 Murray, Jeffrey C.; Johnson, Jennifer A.; Bird, Thomas D. (2008). "Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks". Clinical Genetics. 28 (4): 272–283. doi:10.1111/j.1399-0004.1985.tb00401.x. ISSN 0009-9163.
  10. 10.0 10.1 Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A. G. M.; Poretti, Andrea (2015). "Congenital Abnormalities of the Posterior Fossa". RadioGraphics. 35 (1): 200–220. doi:10.1148/rg.351140038. ISSN 0271-5333.
  11. Stambolliu, Emelina; Ioakeim-Ioannidou, Myrsini; Kontokostas, Kimonas; Dakoutrou, Maria; Kousoulis, Antonis A. (2017). "The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports". Journal of Child Neurology. 32 (10): 886–902. doi:10.1177/0883073817712589. ISSN 0883-0738.
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  20. . doi:10.1227/01.neu.0000088810.75724.0e. Check |doi= value (help). Missing or empty |title= (help)

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