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New insights into neurocutaneous melanosis

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Abstract

Background

Neurocutaneous melanosis is a rare disorder in which children with large cutaneous melanotic nevi have associated melanosis in the brain. Although many affected children have structurally normal brains, some have associated developmental disorders or brain anomalies.

Objectives

To determine the range of extent of brain melanosis as assessed by magnetic resonance imaging (MRI) and to investigate the frequency and types of associated brain anomalies.

Materials and methods

We retrospectively reviewed brain and spine MRIs of 80 patients with congenital melanocytic nevi (range: 1 day to 22 years of age) affiliated with Nevus Outreach Inc. from 1998 to 2017. Central nervous system (CNS) melanosis was diagnosed when a mass with abnormal parenchymal T1 hyperintensity was seen. The locations of abnormal signal, associated malformations, the presence of contrast enhancement and, in patients with more than one MRI, changes over time were recorded. Associations among findings were analyzed using chi-square test or Fisher exact test.

Results

Brain abnormalities were identified in 33 patients. The most common finding was melanosis in the amygdala, which was found in 31 patients (an isolated finding in 14 patients). Nineteen patients had melanosis in the brainstem, cerebellum, cerebral cortex or thalamus. Cerebral and/or spinal leptomeningeal enhancement was uncommon (five patients). Hindbrain melanosis was associated with cerebellar and pontine hypoplasia (P=0.012). Brain melanosis was most easily seen on T1 images prior to myelination; reduced/loss of visibility was noted as the CNS matured.

Conclusion

Brain melanosis is a common manifestation in children with large cutaneous melanotic nevi, most commonly found in the anterior temporal lobes (amygdala), brainstem, cerebellum and cerebral cortex. Hindbrain melanosis is associated with hypoplasia of the affected structures. Early imaging is optimal to provide the greatest sensitivity for diagnosis and to guide proper management.

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Acknowledgements

The authors thank Nevus Outreach Inc. for case collection and permission.

This material was presented as a scientific poster at the 2018 American Society of Neuroradiology meeting.

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Authors and Affiliations

  1. Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, 505 Parnassus Ave., San Francisco, CA, 94143-0628, USA

    Ketsuda Jakchairoongruang & A. James Barkovich

  2. Department of Radiology, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand

    Ketsuda Jakchairoongruang

  3. Department of Pediatrics and Department of Neurology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA

    Yasmin Khakoo

  4. Naevus Global, Bartlesville, OK, USA

    Mark Beckwith

Authors
  1. Ketsuda Jakchairoongruang
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  2. Yasmin Khakoo
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  3. Mark Beckwith
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  4. A. James Barkovich
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Correspondence to A. James Barkovich.

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Jakchairoongruang, K., Khakoo, Y., Beckwith, M. et al. New insights into neurocutaneous melanosis. Pediatr Radiol 48, 1786–1796 (2018). https://doi.org/10.1007/s00247-018-4205-x

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  • DOI: https://doi.org/10.1007/s00247-018-4205-x

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