Primary amelanotic leptomeningeal melanocytosis mimicking subarachnoid hemorrhage: a case report of the deceptive masquerader - Report - 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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Clinical Report: Amelanotic Primary Diffuse Leptomeningeal Melanocytosis

Overview

Expand on the role of early biopsy and molecular profiling in improving patient outcomes.

Background

Primary diffuse leptomeningeal melanocytosis (PDLM) is a rare neoplasm that poses significant diagnostic challenges, particularly in its amelanotic form. These lesions can easily be mistaken for more common conditions such as infectious meningitis or SAH due to the absence of characteristic imaging findings. Understanding PDLM is crucial for timely diagnosis and treatment, especially in young patients presenting with neurological symptoms.

Data Highlights

No numerical or trial data available in the article.

Key Findings

Reorganize findings for clarity and ensure they are directly linked to the case's diagnostic challenges.

Clinical Implications

Clinicians should consider amelanotic PDLM in young patients with unexplained leptomeningeal enhancement or angiogram-negative SAH. Early biopsy and molecular profiling are essential for accurate diagnosis and timely treatment planning.

Conclusion

Summarize key takeaways regarding diagnostic challenges and the need for clinical vigilance.

References

  1. Acta Neuropathologica, 2012 -- Neuropathological Insights into Neurocutaneous Melanosis: Histological Melanotic Neuronal and Glial Foci May Remain Invisible on MRI
  2. Acta Neuropathologica, 2016 -- Genetic Alterations in Newly Diagnosed or Advancing ‘Neurocutaneous Melanosis’ Support Classification as Primary CNS Melanoma
  3. Retinal Physician, 2019 -- Ocular Tumor Masquerade Syndromes
  4. Journal of Neuro-Oncology, 2024 -- Case Study and Literature Analysis of Primary Diffuse Leptomeningeal Glioblastoma
  5. MDPI, 2024 -- Primary Meningeal Melanocytic Tumors of the Central Nervous System: A Review from the Ultra-Rare Brain Tumors Task Force of the European Network for Rare Cancers (EURACAN)
  6. Frontiers, 2026 -- Primary Amelanotic Leptomeningeal Melanocytosis Mimicking Subarachnoid Hemorrhage: A Case Report of The Deceptive Masquerader
  7. Primary Meningeal Melanocytic Tumors of the Central Nervous System: A Review
  8. Frontiers | Primary Amelanotic Leptomeningeal Melanocytosis Mimicking Subarachnoid Hemorrhage: A Case Report of The Deceptive Masquerader

Original Source(s)

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

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