Case Report
BibTex RIS Cite

Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain

Year 2026, Volume: 39 Issue: 1, 80 - 84, 28.01.2026
https://doi.org/10.5472/marumj.1873584

Abstract

Dandy-Walker malformation is a rare congenital anomaly of the posterior fossa of the skull and cerebellum. The pathology includes
hypoplasia or agenesis of the vermis of the cerebellum, cystically dilated fourth ventricle, and an enlarged posterior fossa of the skull.
This anomaly of the cerebellum can lead to a wide spectrum of clinical presentations ranging from mild developmental delay to severe
hydrocephalus, seizures, and fatality. It is usually diagnosed prenatally using anomaly scans. A detailed study of morphological and
microscopic findings is necessary for a better understanding of the etiopathogenesis of this anomaly.
Autopsy is considered the gold standard for confirmation of findings associated with this anomaly. It can also help to explore other
associated anomalies which can further help in genetic studies and patient counseling.
Herein, we present an autopsy report of a 20-week-old male fetus with Dandy-Walker malformation diagnosed prenatally and sent for
autopsy with informed consent after medical termination of pregnancy. Gross and microscopic findings were studied and compared
with those of previous studies done in the past.

References

  • Zamora EA, Das JM, Ahmad T. Dandy-Walker Malformation. [Updated 2023 Nov 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538197/ Accessed on 23.03.2025
  • Al-Turkistani HK. Dandy-Walker syndrome. J Taibah Univ Med Sci 2014;9:209–12.
  • Fatima U, Arakeri S, Ram Kumar K, et al. Dandy-Walker Malformation: A Rare Congenital Anomaly. J Evol Med Dent Sci 2014;3:8761-5. doi: 10.14260/jemds/2014/3119.
  • Basson MA, Wingate RJ. Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat 2013;7:29.
  • Aldinger KA, Lehmann OJ, Hudgins 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. doi: 10.1038/ng.422.
  • Haldipur P, Dang D, Aldinger KA, et al. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife 2017 ;6:e20898. doi: 10.7554/eLife.20898.
  • Guz E, Krzysztof T, Marta C, et al. Dandy-Walker Syndrome – review of patients’ health situation in Poland. J Educ Health Sport 2016;6:181-9.
  • Boddaert N, Klein O, Ferguson N, et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology 2003;45:320-4. doi: 10.1007/s00234-003-0980-6.
  • Sasaki-Adams D, Elbabaa SK, Jewells V, et al. The Dandy- Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr 2008;2:194-9. doi: 10.3171/PED/2008/2/9/194.
  • Tadakamadla J, Kumar S, Mamatha GP. Dandy-Walker malformation: An incidental finding. Indian J Hum Genet 2010 ;16:33-5. doi: 10.4103/0971-6866.64936.
  • Jiménez J, Landivar D, Posligua F, et al. Dandy-Walker malformation in an asymptomatic 27-year-old woman: A case report. Int J Med Students 2018;6:110-3.
  • Phillips JJ, Mahony BS, Siebert JR, Lalani T, Fligner CL, Kapur RP. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006;107:685-9 doi:10.1097/01.AOG.0000200594.85483.8a.
  • Pasquier L, Marcorelles P, Loget P, et al. Association of Dandy- Walker malformation with 13q deletion. Eur J Med Genet 2008;51:531-40.

Year 2026, Volume: 39 Issue: 1, 80 - 84, 28.01.2026
https://doi.org/10.5472/marumj.1873584

Abstract

References

  • Zamora EA, Das JM, Ahmad T. Dandy-Walker Malformation. [Updated 2023 Nov 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538197/ Accessed on 23.03.2025
  • Al-Turkistani HK. Dandy-Walker syndrome. J Taibah Univ Med Sci 2014;9:209–12.
  • Fatima U, Arakeri S, Ram Kumar K, et al. Dandy-Walker Malformation: A Rare Congenital Anomaly. J Evol Med Dent Sci 2014;3:8761-5. doi: 10.14260/jemds/2014/3119.
  • Basson MA, Wingate RJ. Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat 2013;7:29.
  • Aldinger KA, Lehmann OJ, Hudgins 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. doi: 10.1038/ng.422.
  • Haldipur P, Dang D, Aldinger KA, et al. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife 2017 ;6:e20898. doi: 10.7554/eLife.20898.
  • Guz E, Krzysztof T, Marta C, et al. Dandy-Walker Syndrome – review of patients’ health situation in Poland. J Educ Health Sport 2016;6:181-9.
  • Boddaert N, Klein O, Ferguson N, et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology 2003;45:320-4. doi: 10.1007/s00234-003-0980-6.
  • Sasaki-Adams D, Elbabaa SK, Jewells V, et al. The Dandy- Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr 2008;2:194-9. doi: 10.3171/PED/2008/2/9/194.
  • Tadakamadla J, Kumar S, Mamatha GP. Dandy-Walker malformation: An incidental finding. Indian J Hum Genet 2010 ;16:33-5. doi: 10.4103/0971-6866.64936.
  • Jiménez J, Landivar D, Posligua F, et al. Dandy-Walker malformation in an asymptomatic 27-year-old woman: A case report. Int J Med Students 2018;6:110-3.
  • Phillips JJ, Mahony BS, Siebert JR, Lalani T, Fligner CL, Kapur RP. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006;107:685-9 doi:10.1097/01.AOG.0000200594.85483.8a.
  • Pasquier L, Marcorelles P, Loget P, et al. Association of Dandy- Walker malformation with 13q deletion. Eur J Med Genet 2008;51:531-40.
There are 13 citations in total.

Details

Primary Language English
Subjects Surgery (Other)
Journal Section Case Report
Authors

Nikita Patil 0009-0002-6085-7359

Manasi Gosavi This is me 0000-0003-4283-134X

Ashwini Ratnakar This is me 0000-0002-7938-0207

Submission Date March 27, 2025
Acceptance Date November 21, 2025
Publication Date January 28, 2026
Published in Issue Year 2026 Volume: 39 Issue: 1

Cite

APA Patil, N., Gosavi, M., & Ratnakar, A. (2026). Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain. Marmara Medical Journal, 39(1), 80-84. https://doi.org/10.5472/marumj.1873584
AMA 1.Patil N, Gosavi M, Ratnakar A. Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain. Marmara Med J. 2026;39(1):80-84. doi:10.5472/marumj.1873584
Chicago Patil, Nikita, Manasi Gosavi, and Ashwini Ratnakar. 2026. “Autopsy Report of Dandy-Walker Malformation: A Rare Anomaly of the Brain”. Marmara Medical Journal 39 (1): 80-84. https://doi.org/10.5472/marumj.1873584.
EndNote Patil N, Gosavi M, Ratnakar A (January 1, 2026) Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain. Marmara Medical Journal 39 1 80–84.
IEEE [1]N. Patil, M. Gosavi, and A. Ratnakar, “Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain”, Marmara Med J, vol. 39, no. 1, pp. 80–84, Jan. 2026, doi: 10.5472/marumj.1873584.
ISNAD Patil, Nikita - Gosavi, Manasi - Ratnakar, Ashwini. “Autopsy Report of Dandy-Walker Malformation: A Rare Anomaly of the Brain”. Marmara Medical Journal 39/1 (January 1, 2026): 80-84. https://doi.org/10.5472/marumj.1873584.
JAMA 1.Patil N, Gosavi M, Ratnakar A. Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain. Marmara Med J. 2026;39:80–84.
MLA Patil, Nikita, et al. “Autopsy Report of Dandy-Walker Malformation: A Rare Anomaly of the Brain”. Marmara Medical Journal, vol. 39, no. 1, Jan. 2026, pp. 80-84, doi:10.5472/marumj.1873584.
Vancouver 1.Patil N, Gosavi M, Ratnakar A. Autopsy report of Dandy-Walker malformation: A rare anomaly of the brain. Marmara Med J [Internet]. 2026 Jan. 1;39(1):80-4. Available from: https://izlik.org/JA47PD55KU