Association of Dandy-Walker Malformation and Neurocutaneous Melanosis in a Newborn: A Case Report

Document Type : Case Report


1 Faculty of Nursing, Alborz University of Medical Sciences, Karaj, Iran

2 Kamali Clinical Research and Developmental Unit, Alborz University of Medical Sciences, Karaj, Iran


Background: This case report presents a very rare Dandy-Walker malformation (DWM) in association with a sporadic condition characterized by congenital melanocytic nevi and melanocytic thickening of the leptomeninges called Neurocutaneous melanosis (NCM). The DWM is a rare congenital disorder characterized by enlarged posterior fossa and a cystic enlargement of the fourth ventricle with cerebellar vermis dysgenesis. This association is a very rare complex, and this is another rare case to be reported in the literature.
Case report: A full-term newborn was presented with tachypnea at birth whose hydrocephalous was reported prenatally. The magnetic resonance imaging and cerebrospinal fluid immunohistochemistry confirmed leptomeningeal melanosis. After documenting findings by skin biopsy, we decided to report this case. Diagnosis and treatment for such disease entity are discussed in this report.
Conclusion: Even without malignant transformation, the prognosis is poor after symptomatic progression of the NCM resulting from either mass effect in the central nervous system or hydrocephalus. We reported this case in order to increase the knowledge of pediatric physicians to diagnose this combined situation.


1. Bokhari I, Rehman L, Hassan S, Hashim MS. DandyWalker malformation: a clinical and surgical outcome analysis. J Coll Physicians Surg Pak. 2015; 25(6):431-3.
 2. Swar MO, Mahgoub SM, Yassin RO, Osman AM. Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. Sudanese J Paediatr. 2013; 13(2):61.
3. Rohanachandra YM, Dahanayake DM, Wijetunge S. Dandy-Walker malformation presenting with psychological manifestations. Case Rep Psychiatry. 2016; 2016:9104306.
4. Cho IY, Hwang SK, Kim SH. Dandy-walker malformation associated with neurocutaneous melanosis. J Korean Neurosurg Soc. 2011; 50(5):475.
5. Abdulabbas AM, Zghair MA, Al-Khayat RH. Disorders of the cerebellum in children, MRI–clinical correlation. Iraqi Acad Sci J. 2016; 15(1):13-8.
6. Al-Turkistani HK. Dandy–Walker syndrome. J Taibah Univ Med Sci. 2014; 9(3):209-12.
 7. Vundinti BR, Kerketta L, Korgaonkar S, Ghosh K. Dandy-Walker malformations in a case of partial trisomy 9p (p12. 1→ pter) due to maternal translocation t(9; 12)(p12. 1; p13. 3). Indian J Hum Genet. 2007; 13(1):33.
 8. Mallikarjun K, Vatsala V, Bhayya DP. Dandy-Walker syndrome-a rare case report. J Adv Oral Res. 2010; 1(1):67-70.
 9. Scattolin MA, Lin J, Peruchi MM, Rocha AJ, Masruha MR, Vilanova LC. Neurocutaneous melanosis: followup and literature review. J Neuroradiol. 2011; 38(5):313-8.
10. Jalali A, Aldinger KA, Chary A, Mclone DG, Bowman RM, Le LC, et al. Linkage to chromosome 2q36. 1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 2008; 123(3):237-45.
 11. Zhang W, Simos P, Ishibashi H. 2.7 Neurocutaneous melanosis. Neurocutaneous Disord Clin Diagn Ther Appr. 2016; 14:142.
12. Shooshtari S, Stoesz BM, Rad P, Khoeiniha S. Epidemiology of cerebellar disorders. Development of the cerebellum from molecular aspects to diseases. Cham: Springer; 2017. P. 423-63.
 13. Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, et al. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet Part A. 2018; 176(1):48-55.
 14. Samat HB, Flores-Samat L. Embryology of the neural crest: its inductive role in the neurocutaneous syndrome. J Child Neurol. 2005; 20(8):637-43.
15. Kadonaga JN, Frieden IJ. Neurocutaneous melanosis: definition and review of the literature. J Am Acad Dermatol. 1991; 24(5):747-55.
16. Ramaswamy V, Delaney H, Haque S, Marghoob A, Khakoo Y. Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol. 2012; 54(6):563-8.
17. Moreira BL, Grunewald T, Côrtes AA, Marussi VH, Amaral LL. Neurocutaneous melanosis. Radiol Brasil. 2016; 49(6):412-3. Moreira, B. L., Grunewald, T., Côrtes, A. A., Marussi, V. H., & do Amaral, L. L. (2016). Neurocutaneous melanosis. Radiologia brasileira, 49(6), 412–413. doi:10.1590/0100- 3984.2015.0128 .
18. Linares AR, Moya AS, Felix V, Campos Y. Congenital melanocytic nevus syndrome: a case series. Actas Dermo Sifiliográficas. 2017; 108(9):e57-62.Linares, A. R., Moya, A.Actas Dermo-Sifiliográficas (English Edition)108.
 19. D'Argenio A, David P, Engohan C, Hennequin Y, Balériaux D, Jissendi P. Neurocutaneous melanosis in a newborn with giant congenital melanocytic nevus. J Neuroradiol. 2007; 34(4):272-5. 20. Berker M, Oruckaptan HH, Oge HK, Benli K. Neurocutaneous melanosis associated with DandyWalker malformation. Pediatr Neurosurg. 2000; 33(5):270-3.
21. Jakchairoongruang K, Khakoo Y, Beckwith M, Barkovich AJ. New insights into neurocutaneous melanosis. Pediatr Radiol. 2018; 48(12):1786-96.
22. Chen YA, Woodley-Cook J, Sgro M, Bharatha A. Sonographic and magnetic resonance imaging findings of neurocutaneous melanosis. Radiol Case Rep. 2016; 11(1):29-32.
23. Bhatt TA, Daghriri A, Shakweer WA. Neurocutaneous melanosis with pulmonary metastasis: looking beyond the skin. J Dermat Cosmetol. 2019; 3(2):42-4.
24. Sharouf F, Zaben M, Lammie A, Leach P, Bhatti MI. Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: casebased update. Child Nervous Syst. 2018; 34(8): 1471-7.
25. Sung KS, Song YJ. Neurocutaneous melanosis in association with Dandy-Walker complex with extensive intracerebral and spinal cord involvement. J Korean Neurosur Soc. 2014; 56(1):61.
 26. Parisia MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003; 80(1- 2):36-53.
 27. Bittencourt FV, Marghoob AA, Kopf AW, Koenig KL, Bart RS. Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis. Pediatrics. 2000; 106(4):736-41.
 28. Chang TW, Hsieh PC, Liu ZH, Tu PH. Adult-onset neurocutaneous melanosis with Dandy–Walker malformation. Formosan J Surg. 2018; 51(3):118.
29. Mena‐Cedillos CA, Valencia‐Herrera AM, Arroyo‐ Pineda AI, Salgado‐Jiménez MA, Espinoza‐Montero R, Martínez‐Avalos AB, et al. Neurocutaneous melanosis in association with the Dandy–Walker complex, complicated by melanoma: report of a case and literature review. Pediatr Dermatol. 2002; 19(3):237-42.