Primary amelanotic leptomeningeal melanocytosis mimicking subarachnoid hemorrhage: a case report of the deceptive masquerader - Summary - MDSpire

Primary amelanotic leptomeningeal melanocytosis mimicking subarachnoid hemorrhage: a case report of the deceptive masquerader

  • By

  • Yu-Chung Juan

  • John S. Kuo

  • Chun-Chung Chen

  • Ren-Ching Wang

  • Der-Yang Cho

  • Yu-Kai Cheng

  • April 30, 2026

  • 0 min

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Objective:

To highlight the diagnostic challenges and clinical significance of amelanotic primary diffuse leptomeningeal melanocytosis (PDLM) and its presentation mimicking subarachnoid hemorrhage (SAH).

Key Findings:
  • Amelanotic PDLM can mimic SAH and inflammatory meningitis on imaging.
  • Absence of T1 hyperintensity on MRI complicates diagnosis.
  • Histopathological confirmation is crucial for accurate diagnosis.
  • Early intervention is critical to improve patient outcomes.
Interpretation:

The case underscores the need for heightened awareness of amelanotic PDLM in young patients presenting with unexplained leptomeningeal enhancement and negative angiograms, emphasizing the potential for misdiagnosis.

Limitations:
  • The rapid clinical deterioration limited the initiation of targeted therapy, highlighting the need for timely diagnosis.
  • The case represents a single patient experience, which may not be generalizable, underscoring the rarity of PDLM.
Conclusion:

Early biopsy and molecular profiling are essential for timely diagnosis and treatment planning in cases of suspected amelanotic PDLM, particularly in patients with atypical presentations.

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