Leptomeningeal metastasis with sturge-weber syndrome-like gyriform calcification on imaging: a case report.

BACKGROUND

Leptomeningeal metastasis (LM) is characterized by the invasion of malignant cells into the leptomeninges of the brain and spinal cord, leading to symptoms like headache, epilepsy, and cognitive impairment. Cases of unilateral extensive gyriform calcification resembling Sturge-Weber syndrome (SWS) on Imaging are extremely rare. We report a case of LM originating from lung adenocarcinoma in which the imaging findings closely similar to those of SWS. The definitive diagnosis of LM was confirmed through histopathological examination.

CASE PRESENTATION

A 68-year-old right-handed female presented with a 5-month history of rapid cognitive decline, aphasia, irritability, and seizures. Her medical history included radical resection of lung adenocarcinoma 7 years prior. Physical examination revealed no facial hemangioma or other cutaneous stigmata. Brain computed tomography (CT) revealed multiple calcification in the right fronto-temporo-parietal lobe, presenting a typical "tram-track" sign highly reminiscent of SWS. Notably, no calcification were observed on a brain CT performed 18 months earlier. Positron emission tomography-computed tomography (PET-CT) revealed diffuse hypometabolism in the cerebral cortex, while chest CT showed no evidence of lung cancer recurrence. Cerebrospinal fluid (CSF) cytology identified atypical cells. Eventually, Histopathological examination of a pial biopsy revealed cord-like arrangements of atypical epithelioid cells with associated calcification. Immunohistochemistry was positive for cytokeratin (CK), CK7, thyroid transcription factor-1 (TTF-1), and Napsin-A, with a Ki67 proliferation index of 3%. Genetic analysis identified an epidermal growth factor receptor (EGFR) L858R mutation, confirming the diagnosis of LM secondary to lung adenocarcinoma. Following one month of osimertinib therapy, the patient exhibited significant improvement in language function.

CONCLUSIONS

This case presented diagnostic challenges due to extensive gyriform calcification and the "tram-track" sign, which occasionally resemble SWS. However, the patient's late onset, absence of prior calcification, and lack of facial hemangioma were atypical for SWS. Furthermore, non-dominant hemisphere calcification did not align with aphasia symptoms. This single-case observation demonstrates that LM may present with radiologically heterogeneous features, and emphasizes the necessity of histopathological confirmation for accurate diagnosis.