Dandy–Walker malformation

Dandy–Walker malformation
Other namesDandy–Walker syndrome (DWS),[1] Dandy–Walker complex (DWC),[2] Dandy–Walker continuum[3]
T2-weighted sagittal MRI of Dandy–Walker variant (DWV) with dysplasia of the pons and cerebellar vermis in an 8-year old
SpecialtyMedical genetics 
SymptomsHydrocephalus: increasing head size, vomiting, excessive sleepiness, irritability, vertical gaze palsy, seizures[4]
Associated genetic conditions: congenital heart defects, eye abnormalities, intellectual disability, agenesis of the corpus callosum, skeletal abnormalities, etc.[5]
ComplicationsShunt failure (shifting, overdrainage), subdural haematoma, infection[6]
TypesDandy–Walker variant (DWV),[7][6] mega cisterna magna(?)[6][8]
CausesCiliopathic or chromosomal genetic conditions, often not identified[5]
Diagnostic methodMRI, prenatal ultrasound or CT[6]
Differential diagnosisBlake's pouch cyst (BPC),[3][8] mega cisterna magna(?),[6][8] posterior fossa arachnoid cyst[6][9]
TreatmentCystoperitoneal shunt, ventriculoperitoneal shunt, endoscopic third ventriculostomy (ETV)[6][10]
Prognosis15% risk of death, mostly from hydrocephalus or its treatment[6]
Frequency1 in 25,000 to 1 in 50,000[5][11]

Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life,[6] which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures.[4] Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys.[5] It is sometimes discovered in adolescents or adults due to mental health problems.[5][6]

DWM is usually caused by a ciliopathic or chromosomal genetic condition, though the causative condition is only identified in around half of those diagnosed before birth[6] and a third of those diagnosed after birth.[5] The mechanism involves impaired cell migration and division affecting the long period of development of the cerebellar vermis.[6] The mechanism by which hydrocephalus occurs in DWM is not yet fully understood.[6] The condition is diagnosed by MRI or, less commonly, prenatal ultrasound.[6] There are other malformations that can strongly resemble DWM, and disagreement exists around the criteria and classifications used for the malformation.[5][6][12]

Treatment for most involves the implantation of a cerebral shunt in infancy. This is usually inserted in the posterior fossa, but a shunt in the lateral ventricles may be used instead or in conjunction. Endoscopic third ventriculostomy (ETV) is a less invasive option for patients older than 1 year. Posterior fossa shunts are most effective (80% of the time) but carry the highest risk of complications, while ETV is least effective but has the least risk of complications.[6] The mortality rate is roughly 15%, mostly due to complications from hydrocephalus or its treatment, which can include subdural haematomas or infection.[6] The prognosis after successful hydrocephalus treatment is usually good but depends on any associated condition and its symptoms.[5][6] Those without hydrocephalus are treated based on any associated symptoms or condition.[13]

The prevalence of DWM is estimated at between 1 in 25,000 to 1 in 50,000.[5][11] DWM is the cause of around 4.3% of cases of congenital hydrocephalus[14] and 2.5% of all cases of hydrocephalus.[6] At least 21% of those with DWM have a sibling with the malformation, and at least 16% have a parent with the malformation.[5] The malformation was first described by English surgeon John Bland-Sutton in 1887,[6][15] though it was named by German psychiatrist Clemens Ernst Benda in 1954[1][6] after American neurosurgeons Walter Dandy and Arthur Earl Walker, who described it in 1914 and 1942, respectively.[6][16][17]

  1. ^ a b Cite error: The named reference :18 was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference :9 was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference :15 was invoked but never defined (see the help page).
  4. ^ a b Cite error: The named reference :10 was invoked but never defined (see the help page).
  5. ^ a b c d e f g h i j Stambolliu, Emelina; Ioakeim-Ioannidou, Myrsini; Kontokostas, Kimonas; Dakoutrou, Maria; Kousoulis, Antonis A. (2017-09-01). "The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports" (PDF). Journal of Child Neurology. 32 (10): 886–902. doi:10.1177/0883073817712589. ISSN 0883-0738. PMID 28635420. S2CID 20046766.
  6. ^ a b c d e f g h i j k l m n o p q r s t u v Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore, Maria Consiglio; Ruggiero, Claudio; Trischitta, Vincenzo; Aliberti, Ferdinando; Cinalli, Giuseppe (October 2011). "Hydrocephalus in Dandy-Walker malformation". Child's Nervous System. 27 (10): 1665–1681. doi:10.1007/s00381-011-1544-4. ISSN 1433-0350. PMID 21928031. S2CID 25063114.
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  8. ^ a b c Cite error: The named reference :14 was invoked but never defined (see the help page).
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  10. ^ Cite error: The named reference :7 was invoked but never defined (see the help page).
  11. ^ a b "Orphanet: Isolated Dandy Walker malformation". www.orpha.net. Retrieved 2019-12-30.
  12. ^ Cite error: The named reference :8 was invoked but never defined (see the help page).
  13. ^ Cite error: The named reference :19 was invoked but never defined (see the help page).
  14. ^ Lumenta, Christianto B.; Skotarczak, Ulrich (1995-03-01). "Long-term follow-up in 233 patients with congenital hydrocephalus". Child's Nervous System. 11 (3): 173–175. doi:10.1007/BF00570260. ISSN 1433-0350. PMID 7773979. S2CID 22265554.
  15. ^ Cite error: The named reference :17 was invoked but never defined (see the help page).
  16. ^ Dandy, Walter E.; Blackfan, Kenneth D. (1914-12-01). "AN EXPERIMENTAL, CLINICAL AND PATHOLOGICAL STUDY: Part 1.—Experimental Studies". American Journal of Diseases of Children. VIII (6): 406–482. doi:10.1001/archpedi.1914.02180010416002. ISSN 0096-8994.
  17. ^ Taggart, John K.; Walker, A. Earl (1942-10-01). "Congenital Atresia of the Foramens of Luschka and Magendie". Archives of Neurology & Psychiatry. 48 (4): 583–612. doi:10.1001/archneurpsyc.1942.02290100083008. ISSN 0096-6754.
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