Dandy-Walker syndrome

Jump to navigation Jump to search

WikiDoc Resources for Dandy-Walker syndrome

Articles

Most recent articles on Dandy-Walker syndrome

Most cited articles on Dandy-Walker syndrome

Review articles on Dandy-Walker syndrome

Articles on Dandy-Walker syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Dandy-Walker syndrome

Images of Dandy-Walker syndrome

Photos of Dandy-Walker syndrome

Podcasts & MP3s on Dandy-Walker syndrome

Videos on Dandy-Walker syndrome

Evidence Based Medicine

Cochrane Collaboration on Dandy-Walker syndrome

Bandolier on Dandy-Walker syndrome

TRIP on Dandy-Walker syndrome

Clinical Trials

Ongoing Trials on Dandy-Walker syndrome at Clinical Trials.gov

Trial results on Dandy-Walker syndrome

Clinical Trials on Dandy-Walker syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Dandy-Walker syndrome

NICE Guidance on Dandy-Walker syndrome

NHS PRODIGY Guidance

FDA on Dandy-Walker syndrome

CDC on Dandy-Walker syndrome

Books

Books on Dandy-Walker syndrome

News

Dandy-Walker syndrome in the news

Be alerted to news on Dandy-Walker syndrome

News trends on Dandy-Walker syndrome

Commentary

Blogs on Dandy-Walker syndrome

Definitions

Definitions of Dandy-Walker syndrome

Patient Resources / Community

Patient resources on Dandy-Walker syndrome

Discussion groups on Dandy-Walker syndrome

Patient Handouts on Dandy-Walker syndrome

Directions to Hospitals Treating Dandy-Walker syndrome

Risk calculators and risk factors for Dandy-Walker syndrome

Healthcare Provider Resources

Symptoms of Dandy-Walker syndrome

Causes & Risk Factors for Dandy-Walker syndrome

Diagnostic studies for Dandy-Walker syndrome

Treatment of Dandy-Walker syndrome

Continuing Medical Education (CME)

CME Programs on Dandy-Walker syndrome

International

Dandy-Walker syndrome en Espanol

Dandy-Walker syndrome en Francais

Business

Dandy-Walker syndrome in the Marketplace

Patents on Dandy-Walker syndrome

Experimental / Informatics

List of terms related to Dandy-Walker syndrome

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

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:
    • 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.
    • Posterior fossa arachnoid cyst: The fourth ventricle does not have direct communication with posterior fossa CSF collection.
    • Prominent cisterna magna

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.[5]
  • 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. [5]
  • 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.[6]
    • 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. [5]
    • 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. [5]
    • 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.[5]
    • 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:
    • 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.[9]
  • Slight female predominance is observed.[5]
  • Dandy-Walker Syndrome is the underlying cause of 1% to 4% of cases of hydrocephalus.[10]
  • There is no established racial predilection to Dandy-Walker Syndrome.[11]

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. [11]

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.[12]
  • 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 gold

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.[5]

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.[13]

CT scan

  • If MRI is unavailable then CT may be used, but it is less detailed.[5]
  • It is suggested that a suspected diagnosis based on CT should be confirmed by performing an MRI.[14]

MRI

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

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): Drains
    • Cystoperitoneal (CP):
    • Combined VP/CP shunt:

Primary Prevention

  • There are no established measures for the primary prevention of Dandy-Walker Syndrome.

Secondary Prevention

  • Reducing the increased accumulation of CSF causing 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. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore; 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. Unknown parameter |sufirst4= ignored (help)
  6. 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.
  7. 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.
  8. 8.0 8.1 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.
  9. 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.
  10. Hirsch, Jean-François; Pierre-Kahn, Alain; Renier, Dominique; Sainte-Rose, Christian; Hoppe-Hirsch, Elizabeth (1984). "The Dandy-Walker malformation". Journal of Neurosurgery. 61 (3): 515–522. doi:10.3171/jns.1984.61.3.0515. ISSN 0022-3085.
  11. 11.0 11.1 Reeder, Matthew R.; Botto, Lorenzo D.; Keppler-Noreuil, Kim M.; Carey, John C.; Byrne, Janice L. B.; Feldkamp, Marcia L. (2015). "Risk factors for Dandy-Walker malformation: A population-based assessment". American Journal of Medical Genetics Part A. 167 (9): 2009–2016. doi:10.1002/ajmg.a.37124. ISSN 1552-4825.
  12. Chumas, P; Tyagi, A; Livingston, J (2001). "Hydrocephalus---what's new?". Archives of Disease in Childhood - Fetal and Neonatal Edition. 85 (3): 149F–154. doi:10.1136/fn.85.3.F149. ISSN 1359-2998.
  13. Stamatian, Florin; Kovacs, Tunde; Boitor-Borza, Dan (2015). "Transvaginal Three-dimensional Sonographic Assessment of the Embryonic Brain: A Pilot Study". Medicine and Pharmacy Reports. 88 (2): 152–158. doi:10.15386/cjmed-437. ISSN 2668-0572.
  14. Klein, O.; Pierre-Kahn, A.; Boddaert, N.; Parisot, D.; Brunelle, F. (2003). "Dandy-Walker malformation: prenatal diagnosis and prognosis". Child's Nervous System. 19 (7–8): 484–489. doi:10.1007/s00381-003-0782-5. ISSN 0256-7040.