Radiologic-pathologic correlation in meningeal melanocytosis: A case report

Meningeal melanocytosis is an exceedingly rare diffuse leptomeningeal melanocytic disorder that frequently mimics meningeal carcinomatosis or chronic infectious meningitis on conventional magnetic resonance imaging (MRI), posing substantial diagnostic challenges. This report aims to enhance clinical awareness of this condition and underscore the indispensable role of radiologic-pathologic correlation in achieving a definitive diagnosis.

A 19-year-old male presented with a 3-month history of progressive headache, nausea, vomiting, and one episode of generalized tonic-clonic seizure. Neuroimaging demonstrated diffuse linear leptomeningeal enhancement without restricted diffusion or conspicuous T1 shortening. Cerebrospinal fluid (CSF) analysis, bacterial and fungal cultures, next-generation sequencing (NGS), and positron emission tomography-computed tomography (PET-CT) were all non-diagnostic, and empirical anti-infective therapy failed to halt disease progression.

Following comprehensive exclusion of infectious, inflammatory, autoimmune, and neoplastic etiologies, stereotactic leptomeningeal biopsy was performed. Histopathology revealed diffuse proliferation of cytologically bland melanocytes within the leptomeninges; immunohistochemistry confirmed S-100, HMB45, and Melan-A positivity with a Ki-67 proliferative index of approximately 1% and wild-type BRAF V600E status, establishing a definitive diagnosis of meningeal melanocytosis.

The patient was treated with intravenous dexamethasone (10 mg/day) to manage cerebral edema and levetiracetam (500 mg twice daily) for seizure prophylaxis. Referral to a specialized neuro-oncology center was arranged for evaluation of definitive therapy, including potential whole-brain radiotherapy or intrathecal chemotherapy.

Symptoms improved markedly following biopsy and initiation of corticosteroid therapy; headaches resolved, vomiting ceased, and no further seizures occurred during hospitalization. The patient was discharged neurologically intact on day 15 with a healed surgical wound, though long-term follow-up imaging was unavailable due to loss to specialized follow-up.

Meningeal melanocytosis may present without classic melanin-related T1 hyperintensity, rendering it indistinguishable from carcinomatosis on standard MRI sequences. When noninvasive investigations including CSF studies, NGS, and PET-CT are inconclusive, timely tissue biopsy is warranted. Incorporating susceptibility-weighted imaging and molecular testing for GNAQ/GNA11 mutations into the diagnostic workup may improve early and accurate identification of this rare condition.