Skip to main content

Advertisement

SpringerLink
Log in

Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review

  • Short Report
  • Published:
Neuroradiology Aims and scope Submit manuscript

Abstract

Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy–Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Kinsler VA, Thomas AC, Ishida M et al (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol 133:2229–2236. https://doi.org/10.1038/jid.2013.70

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Etchevers HC, Rose C, Kahle B et al (2018) Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF. Pigment Cell Melanoma Res 31:437–441. https://doi.org/10.1111/pcmr.12685

    Article  CAS  PubMed  Google Scholar 

  3. Barkovich AJ, Frieden IJ, Williams ML (1994) MR of neurocutaneous melanosis. AJNR Am J Neuroradiol 15:859–867

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Waelchli R, Aylett SE, Atherton D et al (2015) Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. Br J Dermatol 173:739–750. https://doi.org/10.1111/bjd.13898

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Kinsler VA, O’Hare P, Bulstrode N et al (2017) Melanoma in congenital melanocytic naevi. Br J Dermatol 176:1131–1143. https://doi.org/10.1111/bjd.15301

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Kinsler VA, Paine SML, Anderson GW et al (2012) Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol 123:453–456. https://doi.org/10.1007/s00401-012-0945-0

    Article  PubMed  PubMed Central  Google Scholar 

  7. Kinsler VA, Aylett SE, Coley SC et al (2001) Central nervous system imaging and congenital melanocytic naevi. Arch Dis Child 84:152–155. https://doi.org/10.1136/adc.84.2.152

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Severino M, Huisman TAGM (2019) Posterior fossa malformations. Neuroimaging Clin N Am 29:367–383. https://doi.org/10.1016/j.nic.2019.03.008

    Article  PubMed  Google Scholar 

  9. Poretti A, Boltshauser E, Huisman TAGM (2016) Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum 15:5–9. https://doi.org/10.1007/s12311-015-0699-z

    Article  PubMed  Google Scholar 

  10. Whitehead MT, Barkovich MJ, Sidpra J et al (2022) Refining the neuroimaging definition of the Dandy-Walker phenotype. AJNR Am J Neuroradiol 43:1488–1493. https://doi.org/10.3174/ajnr.A7659

    Article  CAS  PubMed  Google Scholar 

Download references

Funding

The authors received no financial support for the research and authorship of this article.

Author information

Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy

    Martina Di Stasi

  2. Diagnostic and Interventional Neuroradiology Department, AOU San Giovanni Di Dio E Ruggi d’Aragona, Salerno, Italy

    Martina Di Stasi

  3. Neuroradiology Unit, Department of Radiology, Great Ormond Street Hospital NHS Foundation Trust, London, UK

    Kshitij Mankad, Olivia Carney, Ulrike Loebel, Asthik Biswas, Sniya Sudhakar & Felice D’Arco

  4. Paediatric Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK

    Veronica Kinsler

  5. Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK

    Veronica Kinsler

  6. Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, UK

    Veronica Kinsler

Authors
  1. Martina Di Stasi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kshitij Mankad
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Olivia Carney
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ulrike Loebel
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Asthik Biswas
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sniya Sudhakar
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Veronica Kinsler
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Felice D’Arco
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors conceived and designed the paper. MDS and FD wrote the article.

Corresponding author

Correspondence to Martina Di Stasi.

Ethics declarations

Conflict of interest disclosure

Authors declare they have no financial or non-financial interests directly or indirectly related to this work.

Ethical approval

This retrospective case report has been performed in compliance with the Helsinki Declaration.

Informed consent

Informed consent was obtained from legal guardians of our patient.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

ESM 1

(DOCX 16 kb)

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Di Stasi, M., Mankad, K., Carney, O. et al. Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review. Neuroradiology 65, 1077–1086 (2023). https://doi.org/10.1007/s00234-023-03150-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00234-023-03150-9

Keywords

Search

Navigation