Diagnostic difficulties of primary diffuse leptomeningeal melanocytosis of the central nervous system: clinical case
S. V. Vtorushin,
D. V. Vasilchenko,
O. S. Tonkikh,
K. S. Vtorushin,
N. V. Degtyarenko,
N. V. Krakhmal https://doi.org/10.20538/1682-0363-2025-3-179-186
Abstract
Primary diffuse leptomeningeal melanocytosis (PDLM) is a rare neoplastic lesion of the central nervous system, characterized by diffuse infiltration of the leptomeninges by melanocytes without apparent invasion into the brain parenchyma. Diagnosing the disease is challenging due to its nonspecific clinical presentation and the lack of clear neuroimaging criteria, necessitating morphological and immunohistochemical studies for definitive verification.
This article presents a clinical case of a patient with progressive neurological impairments, diagnostic challenges, and postmortem verification of PDLM. The key differential diagnostic aspects, the morphological structure of the tumor, and its immunohistochemical profile are described. Additionally, neuroimaging data are provided, demonstrating characteristic changes associated with PDLM. The presented clinical case highlights the necessity of a multidisciplinary approach to managing patients with chronic meningeal lesions of unknown etiology and underscores the importance of further research in molecular diagnostics and potential treatment strategies.
Supporting agencies: The authors state that they received no funding for the study
About the Authors
S. V. Vtorushin
Siberian State Medical University (SibSMU); Cancer Research Institute, Tomsk National Research Medical Center (NRMC), Russian Academy of Sciences
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk; 5 Kooperativny St., 634009 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
D. V. Vasilchenko
Siberian State Medical University (SibSMU)
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
O. S. Tonkikh
Siberian State Medical University (SibSMU)
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
K. S. Vtorushin
Siberian State Medical University (SibSMU)
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
N. V. Degtyarenko
Siberian State Medical University (SibSMU)
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
N. V. Krakhmal
Siberian State Medical University (SibSMU); Cancer Research Institute, Tomsk National Research Medical Center (NRMC), Russian Academy of Sciences
Russian Federation
Competing Interests:
Russian Federation
2 Moskovsky trakt, 634050 Tomsk; 5 Kooperativny St., 634009 Tomsk
Competing Interests:
The authors declare the absence of obvious or potential conflict of interest related to the publication of this article
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For citations:
Vtorushin S.V., Vasilchenko D.V., Tonkikh O.S., Vtorushin K.S., Degtyarenko N.V., Krakhmal N.V. Diagnostic difficulties of primary diffuse leptomeningeal melanocytosis of the central nervous system: clinical case. Bulletin of Siberian Medicine. 2025;24(3):179-186. https://doi.org/10.20538/1682-0363-2025-3-179-186
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