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Updated: Dec 31, 2025
Author Spotlight: Assessing the Potential of Circulating Tumor Cells in Leptomeningeal Disease Research
Published on: March 29, 2024
CT and MRI findings in leptomeningeal melanocytosis
Ferzana A Hossain1, Hector J Marquez1, Daniel L Veltkamp1
1University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Abstract:
Leptomeningeal melanocytosis is a rare cause of seizure in the pediatric population. Shown here is a case of this disease in a 9-year-old male who presented with seizures and minor trauma. Imaging showed progression of leptomeningeal enhancement in the setting of increased seizure activity, and biopsy confirmed the diagnosis. The patient received immunotherapy but eventually succumbed to the disease. This case serves as an educational tool to improve awareness of melanocytic proliferation as a differential consideration for leptomeningeal enhancement.
Insights
Leptomeningeal melanocytosis, a rare condition causing seizures in children, was observed in a 9-year-old male. Despite immunotherapy, the patient succumbed, highlighting the need for increased awareness of this rare disease.
Area of Science:
- Pediatric Neurology
- Neuro-oncology
- Rare Diseases
Background:
- Leptomeningeal melanocytosis is a rare condition characterized by the proliferation of melanocytes in the leptomeninges.
- Seizures are a significant clinical manifestation, particularly in the pediatric population.
Observation:
- A 9-year-old male presented with seizures and a history of minor trauma.
- Serial imaging revealed progressive leptomeningeal enhancement correlating with increased seizure frequency.
- Diagnosis was confirmed via biopsy.
Findings:
- The case illustrates the diagnostic challenge of leptomeningeal melanocytosis in pediatric seizure patients.
- Despite treatment with immunotherapy, the disease followed a fatal course.
Implications:
- This case underscores the importance of considering melanocytic proliferation in the differential diagnosis of leptomeningeal enhancement in children.
- Enhanced awareness can potentially lead to earlier diagnosis and improved management strategies for this rare condition.
