1537 - Unveiling Brain Metastasis in a Melanoma Patient with Xeroderma Pigmentosum

Case Diagnosis: Brain metastasis in the setting of malignant melanoma

Case Description: 18-year-old female with Xeroderma Pigmentosum (XP) and a history of resected malignant melanoma was admitted following a traumatic brain injury from a scooter-related motor vehicle collision. On arrival, the patient had a GCS of 13, which dropped to 3, leading to intubation. CT scan revealed a significant right front temporal intracerebral hemorrhage with intraventricular hemorrhage. She underwent a right decompressive hemicraniectomy and was admitted to the intensive care unit. A subsequent MRI detected a 2.7-cm cystic lesion in the posterior parietal right lobe with rim enhancement, suggesting a possible separate intra-axial lesion. Follow-up MRIs two and four weeks later identified a 10-mm enhancing nodular focus in the right parietal lobe, resembling the earlier MRI, confirming metastasis. After the third MRI, a right craniotomy was done to remove the suspected brain metastasis. The patient was discharged to the children’s hospital for continued oncological treatment and rehabilitation care.

Discussions: Clinical studies at the NIH found a nearly 10,000-fold increase in skin cancer in XP patients under the age of 20 years. Moreover, Melanoma has a propensity for metastasizing to the brain. According to Interno and colleagues, brain metastases occur in almost 50% of patients with cutaneous melanoma. Given the high risk of skin malignancies in XP patients and the likelihood of melanoma metastasizing to the brain, frequent screening with enhanced MRI, the most sensitive imaging method for early detection of melanoma brain metastasis, is essential.

Conclusions: This case report exemplifies the elevated risk that patients with XP have for developing malignant melanoma and, subsequently, metastatic brain tumors. More aggressive screening protocols, particularly for the detection of brain metastasis, should be considered for this high-risk population, and physicians should maintain a higher degree of clinical suspicion for metastatic processes in these patients.