Desafios diagnósticos na paquimeningite hipertrófica: série de casos clínicos e revisão de literatura

Abstract

Hypertrophic pachymeningitis (HP) is a rare inflammatory disease characterized by focal or diffuse thickening of the dura mater, with a heterogeneous etiology (idiopathic, immunomediated, infectious, or neoplastic). This study conducted a narrative literature review (2014–2024) and a retrospective series of seven cases evaluated at a tertiary center, aiming to analyze the diagnostic challenges of HP, correlate clinical, neuroimaging, cerebrospinal fluid, and histopathological findings, and compare the cohort with published series. Patients were included based on dural enhancement on contrast-enhanced MRI and histopathological investigation or robust clinical–radiological correlation; the assessment included contrast MRI, CSF analysis, extensive laboratory testing, and systemic imaging workup. In the cohort, females predominated (4/7), and the median age was 59 years. Headache (6/7) and cranial neuropathies (5/7) were the most frequent clinical manifestations; specific syndromes (Tolosa–Hunt, orbital pseudotumor) and signs of parenchymal involvement were also observed at considerable frequency. MRI most often demonstrated a diffuse and irregular pattern of dural thickening, with frequent leptomeningeal enhancement; the “Eiffel-by-night” sign was identified in one case. CSF analysis typically showed moderate hyperproteinorrachia and mild pleocytosis in immunomediated cases. Biopsy confirmed specific etiologies in three patients (Staphylococcus aureus, tuberculosis, and IgG4-related HP); three samples were nonspecific (idiopathic). The mean time to diagnosis was ≈15 months. Treatment followed etiology-based protocols (corticosteroid therapy and immunosuppressants in non-infectious forms; targeted therapy in infectious etiologies). Only one patient achieved complete remission; most had partial improvement with persistent neurological sequelae. HP requires multidisciplinary evaluation and targeted biopsy to establish an etiological diagnosis. This is the first case series published in Latin America, contributing to the limited international literature on clinical–radiological patterns and diagnostic challenges; limitations include the small sample size and difficulty obtaining representative biopsy specimens. Early detection and biopsy, preferably in less invasive sites, are essential for implementing targeted therapy and improving outcomes.