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Case report
Symptomatic neurocutaneous melanosis: mild clinical onset in a teenager
  1. Aimen Vanood1,
  2. Young Ah Lee2,
  3. Elizabeth Leleszi3 and
  4. Anant Krishnan1,4
  1. 1Oakland University William Beaumont School of Medicine, Rochester, Michigan, USA
  2. 2Department of Pediatrics, Banner Desert Medical Center, Mesa, Arizona, USA
  3. 3Department of Pediatrics, Beaumont Children's Hospital, Royal Oak, Michigan, USA
  4. 4Department of Diagnostic Radiology and Molecular Imaging, Beaumont Hospital, Royal Oak, Michigan, USA
  1. Correspondence to Dr Anant Krishnan; Anant.Krishnan{at}beaumont.edu

Abstract

Neurocutaneous melanosis (NCM) is a rare disorder characterised by giant or multiple melanocytic nevi and meningeal melanosis or melanoma. Onset of neurological symptoms is typically in children younger than 2 years and can be rapidly fatal. We present the case of a 13-year-old adopted girl presenting with numerous congenital melanocytic nevi and a seizure. She had no significant previous neurological history. Electroencephalogram showed epileptiform discharges over the right frontal region. MRI of the brain showed T1 hyperintensity in the bilateral amygdala and anterior temporal lobes with corresponding hyperintensity on T2 and fluid attenuated inversion recovery. There was no hydrocephalus. Along with the history of nevi, these imaging findings were concerning for NCM. The patient is being managed with levetiracetam and trametinib and shows no further neurological decline at 1-year follow-up, providing prognostic hope in this case of NCM.

  • neuroimaging
  • congenital disorders
  • radiology

https://doi.org/10.1136/bcr-2020-235772

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    Footnotes

    • Contributors AV, YAL, EL and AK took care of the patient and were major contributors in the writing of this manuscript. AV drafted the full manuscript and communicated with the patient and her family to obtain consent for this case report. YAL revised the manuscript, added to the background and literature review, and provided input for the case presentation. Once obtaining consent, she also provided images of the patient’s congenital nevi. EL revised the manuscript and provided input for the case presentation, particularly the follow-up findings. AK revised the manuscript and added to the background and details of investigation. Once obtaining consent, he also provided the patient’s brain imaging along with explanations of the radiological findings.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.