dandy walker syndrome

Summary

Summary: A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)

Top Publications

  1. Teksam M, Ozyer U, McKinney A, Kirbas I, Cakir B. Fetal MRI of a severe Dandy-Walker malformation with an enlarged posterior fossa cyst causing severe hydrocephalus. Fetal Diagn Ther. 2005;20:524-7 pubmed
    ..The precise diagnosis and absence of associated anomalies revealed by MRI aided in parent counseling and obstetrical management...
  2. Harper T, Fordham L, Wolfe H. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging. Fetal Diagn Ther. 2007;22:277-81 pubmed
    ..This study compares the diagnostic accuracy of prenatal ultrasound with postnatal imaging and evaluates for associated fetal anomalies and their impact on immediate neonatal outcome in fetal Dandy Walker complex (DWC)...
  3. Kadonaga J, Barkovich A, Edwards M, Frieden I. Neurocutaneous melanosis in association with the Dandy-Walker complex. Pediatr Dermatol. 1992;9:37-43 pubmed
  4. Trabelsi M, Hammou Jeddi A, Kammoun A, Bennaceur B, Gharbi H. [Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome]. Pediatrie. 1990;45:35-8 pubmed
    ..This chondrodysplasia was associated with hepatic ductular hypoplasia, agenesis of the corpus callosum and Dandy-Walker malformation. To our knowledge, such an association has not previously been reported in the literature...
  5. Sato T, Moritani T, Hitchon P. Occipital intradiploic CSF pseudocyst: an unusual complication of a ventriculoperitoneal shunt malfunction. AJNR Am J Neuroradiol. 2009;30:635-6 pubmed publisher
    ..A proposed pathogenesis of the lesion is discussed...
  6. Boddaert N, Klein O, Ferguson N, Sonigo P, Parisot D, Hertz Pannier L, et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology. 2003;45:320-4 pubmed
    ..Preservation of cerebrocerebellar pathways and neonatal plasticity could explain the normal intellectual development. These findings might be useful in prenatal diagnosis...
  7. Pierre Kahn A, Sonigo P. Malformative intracranial cysts: diagnosis and outcome. Childs Nerv Syst. 2003;19:477-83 pubmed
    ..By including those that will remain silent postnatally, precious information can be provided about their real natural history...
  8. Aluclu M, Bahceci S, Bahceci M. A rare embryological malformation of brain - Dandy-Walker syndrome - and its association with Kallmann's syndrome. Neuro Endocrinol Lett. 2007;28:255-8 pubmed
    ..We aimed to report an association of Kallmann's syndrome and Dandy-Walker malformation...
  9. Cakmak A, Zeyrek D, Cekin A, Karazeybek H. Dandy-Walker syndrome together with occipital encephalocele. Minerva Pediatr. 2008;60:465-8 pubmed
    ..It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. The authors present a case of Dandy-Walker syndrome together with occipital encephalocele...

More Information

Publications62

  1. Hengstschlager M, Bettelheim D, Drahonsky R, Repa C, Deutinger J, Bernaschek G. Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation. Prenat Diagn. 2004;24:623-6 pubmed
    ..To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation...
  2. Zhang X, Wei S, Li C, Xu X, He Y, Luo Q, et al. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation. Clin Exp Dermatol. 2009;34:309-13 pubmed publisher
    ..Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID...
  3. Klein O, Pierre Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003;19:484-9 pubmed
    ..If any one of the previous criteria were not met, the malformation was considered distinct from DWM...
  4. Cazorla Calleja M, Verdu A, Félix V. Dandy-Walker malformation in an infant with tetrasomy 9p. Brain Dev. 2003;25:220-3 pubmed
  5. Menahem S, Gillam L. Fetal diagnosis - obligations of the clinician. Case studies in the prenatal diagnosis of major heart abnormality. Fetal Diagn Ther. 2007;22:233-7 pubmed
  6. Nakamura Pereira M, Cima L, Llerena J, Guerra F, Peixoto Filho F. Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. J Clin Ultrasound. 2009;37:471-4 pubmed publisher
  7. Oertel J, Mondorf Y, Schroeder H, Gaab M. Endoscopic diagnosis and treatment of far distal obstructive hydrocephalus. Acta Neurochir (Wien). 2010;152:229-40 pubmed publisher
    ..Obstruction of the CSF circulation distal to the fourth ventricle is a rare cause of noncommunicating hydrocephalus. Endoscopic third ventriculostomy (ETV) represents one of the treatment options, but reports of results are rare...
  8. Wakeling E, Jolly M, Fisk N, Gannon C, Holder S. X-linked inheritance of Dandy-Walker variant. Clin Dysmorphol. 2002;11:15-8 pubmed
    ..The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait...
  9. Martínez Lage J. Progressive myelopathy due to meningeal thickening in shunted patients: description of a novel entity and the role of surgery. Childs Nerv Syst. 2007;23:853-4 pubmed
  10. Niesen C. Malformations of the posterior fossa: current perspectives. Semin Pediatr Neurol. 2002;9:320-34 pubmed
    ..A rare form of cerebellar hypertrophy which caused repeated obstruction at the foramen magnum is recognized. The importance of the cerebellum in language, cognition, and brain growth is stressed...
  11. Unal O, Arslan H, Adali E, Bora A, Yildizhan R, Avcu S. MRI of omphalopagus conjoined twins with a Dandy-Walker malformation: prenatal true FISP and HASTE sequences. Diagn Interv Radiol. 2010;16:66-9 pubmed publisher
    ..To our knowledge, this is the first case of conjoined twins with this malformation, which was diagnosed with ultrafast MRI...
  12. Schreml S, Gruendobler B, Schreml J, Bayer M, Ladoyanni E, Prantl L, et al. Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review. Clin Exp Dermatol. 2008;33:611-4 pubmed publisher
    ..The diagnosis is provisional asymptomatic multiple CMN-type NCM in association with DWM...
  13. Van Maldergem L, Yuksel Apak M, Kayserili H, Seemanova E, Giurgea S, Basel Vanagaite L, et al. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008;71:1602-8 pubmed publisher
    ..To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort...
  14. Aviv H, Wolf R, Edward Davis S, Wallerstein R. Fetus with a de novo supernumerary marker chromosome 16 and a Dandy-Walker malformation detected on ultrasound. Prenat Diagn. 2005;25:616-8 pubmed
  15. Langarica M, Peralta V. [Psychosis associated to megacisterna magna]. An Sist Sanit Navar. 2005;28:119-21 pubmed
    ..This is the first report of such an association, and it is suggested that both the psychotic disorder and the mega cisterna magna may be the expression of a single underlying neurodevelopment abnormality...
  16. Prieto Espuñes S, Santos Juanes J, Medina Villanueva A, Concha Torre A, Rey Galán C, Sánchez del Río J. Death from cerebrovascular infarction in a patient with PHACES syndrome. J Am Acad Dermatol. 2004;51:142-3 pubmed
  17. Ballarati L, Rossi E, Bonati M, Gimelli S, Maraschio P, Finelli P, et al. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet. 2007;44:e60 pubmed
    ..Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features...
  18. Planas S, Peiro R, Rubio R, Villanueva R, Seres A, Carreras R. A new report of mesomelic camptomelia, polydactyly and Dandy-Walker complex in siblings. Prenat Diagn. 2003;23:372-4 pubmed
    ..This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern...
  19. Kontopoulos E, Quintero R, Salihu H, Bornick P, Allen M. Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. J Matern Fetal Neonatal Med. 2008;21:839-42 pubmed publisher
    ..The purpose of this study was to assess the incidence of DWS in monochorionic twins...
  20. Caceres A, Trejos H. Neurocutaneous melanosis with associated Dandy-Walker complex. Childs Nerv Syst. 2006;22:67-72 pubmed
    ..Endoscopic fenestration and biopsy of the cyst wall was performed without evidence of abnormal melanin deposits in the meninges...
  21. Kajii T, Ikeuchi T, Yang Z, Nakamura Y, Tsuji Y, Yokomori K, et al. Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants. Am J Med Genet. 2001;104:57-64 pubmed
    ..The possible role of mitotic checkpoint defects, proven in two infants with the syndrome (Matsuura et al. [2000: Am J Hum Genet 69:483-486]), was discussed in connection with tumor development and progression...
  22. Aldinger K, Lehmann O, Hudgins L, Chizhikov V, Bassuk A, Ades L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009;41:1037-42 pubmed publisher
    ..Our results highlight a previously unrecognized role for mesenchyme-neuroepithelium interactions in the mid-hindbrain during early embryogenesis...
  23. Almenrader N, Passariello M, Coccetti B, Pietropaoli P. Anesthesia for a child with deletion 3q syndrome. Paediatr Anaesth. 2008;18:789-90 pubmed publisher
  24. Tonni G, Azzoni D, Ambrosetti F, De Felice C, Ventura A. Cerebro-fronto-facial syndrome (Dandy-Walker Variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13(+6) weeks. Congenit Anom (Kyoto). 2007;47:68-71 pubmed
    ..Careful ultrasonographic follow-up is mandatory in all cases of increased first trimester nuchal translucency with normal karyotype in order to identify associated anomalies...
  25. Cajaiba M, Benjamin D, Halaban R, Reyes Mugica M. Metastatic peritoneal neurocutaneous melanocytosis. Am J Surg Pathol. 2008;32:156-61 pubmed
    ..The biologic features of NCM cells merit further exploration, as they may shed light on a much more frequent neoplastic neurocristopathy, namely, malignant melanoma...
  26. Erdal M, Plikcioglu A, Bikmaz K, Cøsar M. Dandy-Walker complex and syringomyelia in an adult: case report and discussion. Neurosurgery. 2003;52:1504-5; author reply 1505 pubmed
  27. Trovato M, Grosso M, Vitarelli E, Benvenga S, Trimarchi F, Barresi G. Immunoexpression of the hepatocyte growth factor (HGF), HGF-receptor (c-met) and STAT3 on placental tissues from malformed fetuses. Histol Histopathol. 2002;17:691-8 pubmed publisher
    ..This immunohistochemical approach could be used in the diagnostic practice of pathologists on chorionic villi biopsy when genetic alterations are absent and ultrasound aspects are doubtful for malformations...
  28. Hadzikaric N, Nasser M, Mashani A, Ammar A. CSF hydrothorax--VP shunt complication without displacement of a peritoneal catheter. Childs Nerv Syst. 2002;18:179-82 pubmed
    ..Intraperitoneal injection of contrast material followed by X-ray examination of fluid in the chest is a simple, safe, and reliable method of diagnosis when it is suspected...
  29. Yamada H, Oi S, Tamaki N, Matsumoto S, Taomoto K. Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. Neurol Med Chir (Tokyo). 1991;31:326-9 pubmed
  30. Zechi Ceide R, Guion Almeida M, Zanchetta S, Richieri Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. Am J Med Genet A. 2007;143A:3295-301 pubmed
    ..The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance...
  31. Miyajima M. [Endoscopic third ventriculostomy: indications and outcome]. No Shinkei Geka. 2007;35:543-55 pubmed
  32. Gotz Wieckowska A, Siwiec Prościńska J, Siennicka A, Strzyzewski K. [Suddenly occurring exotropia with nystagmus in a 5-year-old girl]. Ophthalmologe. 2006;103:892-4 pubmed
  33. Puvabanditsin S, Garrow E, Snider Z, Azuma M, Tavaria A, Cerefice M. Dandy-Walker malformation in mosaic Klinefelter syndrome. Genet Couns. 2006;17:245-8 pubmed
  34. Utsunomiya H, Yamashita S, Takano K, Ueda Y, Fujii A. Midline cystic malformations of the brain: imaging diagnosis and classification based on embryologic analysis. Radiat Med. 2006;24:471-81 pubmed
    ..A careful review of embryologic development is essential for understanding these midline cysts and for making a more accurate radiologic diagnosis...
  35. Weinzierl M, Coenen V, Korinth M, Gilsbach J, Rohde V. Endoscopic transtentorial ventriculocystostomy and cystoventriculoperitoneal shunt in a neonate with Dandy-Walker malformation and associated aqueductal obstruction. Pediatr Neurosurg. 2005;41:272-7 pubmed
    ..The high rate of complications of combined shunting stimulated the authors to search for an alternative surgical solution...
  36. Zalel Y, Gilboa Y, Gabis L, Ben Sira L, Hoffman C, Wiener Y, et al. Rotation of the vermis as a cause of enlarged cisterna magna on prenatal imaging. Ultrasound Obstet Gynecol. 2006;27:490-3 pubmed
  37. Russo R, Fallet Bianco C. Isolated posterior cerebellar vermal defect: a morphological study of midsagittal cerebellar vermis in 4 fetuses--early stage of Dandy-Walker continuum or new vermal dysgenesis?. J Child Neurol. 2007;22:492-500; discussion 501 pubmed
    ..This feature might be the neuropathological pattern of the early stage of the Dandy-Walker continuum, although it cannot be excluded as a consequence of a primary developmental failure of the vermal primordium...
  38. Caglayan A, Gumus H, Yikilmaz A, Gumus G, Per H. A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Genet Couns. 2009;20:359-65 pubmed
    ..Other syndromes characterized by femoral hypoplasia and/or molar tooth sign are also discussed...
  39. Złomaniec J, Bryc S, Grudzinski S. The role of CT-imaging in recognizing the type of hydrocephalus and porencephaly in children. Ann Univ Mariae Curie Sklodowska Med. 1993;48:175-80 pubmed
    ..This paper presents an attempt at assessing different forms of porencephaly, taking into account congenital hydrocephalus in children by means of CT-imaging...
  40. Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001;56:1059-69 pubmed
    ..Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34...
  41. Nizard J, Bernard J, Ville Y. Fetal cystic malformations of the posterior fossa in the first trimester of pregnancy. Fetal Diagn Ther. 2005;20:146-51 pubmed
    ..We believe first trimester diagnosis of Dandy-Walker complex is possible, but needs to be confirmed later during the pregnancy and should prompt a detailed survey for other abnormalities...
  42. Di Rocco C. Dandy Walker variant and persistent occipital sinus at the museum La Specola in Florence. Childs Nerv Syst. 2006;22:225-6 pubmed
  43. Notaridis G, Ebbing K, Giannakopoulos P, Bouras C, Kovari E. Neuropathological analysis of an asymptomatic adult case with Dandy-Walker variant. Neuropathol Appl Neurobiol. 2006;32:344-50 pubmed
    ..The preservation of the cortical cytoarchitecture as well as the paucity of additional neurodevelopmental changes may explain the absence of clinical expression...
  44. Warwick C, Reyes B, Ayoob M, Subit M. Adult diagnosed Dandy Walker malformation presenting as an acute brainstem event--a case report and review of the literature. W V Med J. 2008;104:25-7 pubmed
    ..Her history and physical exam were consistent with an acute brainstem infarct. MRI revealed the underlying malformation. The clinical and radiological findings are discussed as well as their implications and possible etiologies...
  45. Al Hinai Q, Pawar S, Sharma R, Devadas R. Subgaleal migration of a ventriculoperitoneal shunt. J Clin Neurosci. 2006;13:666-9 pubmed
    ..At surgery, the entire VP shunt was found to have migrated into the subgaleal space, which clinically presented as shunt obstruction. We suggest techniques to avoid this rare, but preventable, complication of shunt surgery...
  46. Phillips J, Mahony B, Siebert J, Lalani T, Fligner C, Kapur R. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol. 2006;107:685-93 pubmed
    ..This autopsy-based study was designed to evaluate sonographic and neuropathologic findings of fetuses diagnosed prenatally with Dandy-Walker malformation complex...
  47. Rusnak A, Hadfield M, Chudley A, Marles S, Reid G, Chodirker B. Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. Fetal Diagn Ther. 2008;24:395-9 pubmed publisher
    ..Identification of recurrences using first-trimester ultrasound has not been reported previously...
  48. Bhattacharya J, Luo C, Alvarez H, Rodesch G, Pongpech S, Lasjaunias P. PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions. Neuroradiology. 2004;46:227-33 pubmed
    ..We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis...
  49. Agarwal R, Aggarwal R, Kabra M, Deorari A. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. Clin Dysmorphol. 2002;11:223-4 pubmed
    ..A female infant is described with the rare association of Dandy-Walker malformation in Rubinstein-Taybi syndrome...
  50. Imai T, Hattori H, Miyazaki M, Higuchi Y, Adachi S, Nakahata T. Dandy-Walker variant in Coffin-Siris syndrome. Am J Med Genet. 2001;100:152-5 pubmed
    ..The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain...
  51. Elston D. What is your diagnosis? Supernumerary digit. Cutis. 2006;77:360, 365-6 pubmed
  52. Sener R. Rhombencephalosynapsis associated with Dandy-Walker malformation. J Neuroimaging. 2007;17:355-7 pubmed
    ..The fourth ventricle showed cystic dilatation associated with an enlarged posterior fossa, characteristic for Dandy-Walker malformation. These findings suggest that rhombencephalosynapsis and Dandy-Walker malformation can coexist...
  53. Avcu S, Akdenız H, Unal O, Kurdoglu M. Goldston syndrome in a fetus: case report and literature review. Fetal Pediatr Pathol. 2010;29:353-8 pubmed publisher
    ..The kidneys were symmetrically enlarged and multicystic. To our knowledge this is the third reported case of Goldston syndrome which was diagnosed during intrauterine life...