Langerhans cell histiocytosis presenting with pachymeningitis and epilepsy: a case report

Case presentation: A 57-year-old patient with a history of recurrent pruritic vulvar lesions spanning 14 years presented initially with physical examination findings of friable erythematous-papular lesions in the vulvar and perineal regions. Infectious screening was negative. A biopsy of the lesion revealed Langerhans cell histiocytosis, confirmed by immunohistochemistry with the following markers: positive for S100 and CD1A, and negative for CD68. Treatment commenced with topical therapy, coupled with regular monitoring for systemic involvement. Neurological evaluation was prompted by the patient’s recent onset of episodes involving brief behavioral arrests over the past year. Despite a comprehensive neurological examination yielding no abnormalities, an EEG demonstrated discharges in the left temporal region. Subsequent MRI of the brain identified expansive nodular formations with multilobular enhancement along the tentorium. Additionally, a nodular subcortical expansive lesion with paramagnetic contrast enhancement was noted in the right parietal lobe, indicating potential central nervous system involvement from the underlying disease. Furthermore, radiographic findings revealed ground-glass changes in the bony walls of the paranasal sinuses, suggesting concurrent bone involvement. Given the extensive systemic manifestations, the hematology team opted to initiate chemotherapy with cytarabine and dexamethasone. Initial treatment for focal epilepsy with carbamazepine proved ineffective, leading to a switch to levetiracetam. Upon reaching a daily dosage of 1500 mg, the patient experienced no further episodes of focal dyscognitive seizures. Discussion: Histiocytic neoplasms are uncommon, affecting approximately 5 individuals per million population.Central nervous system (CNS) involvement in Langerhans Cell Histiocytosis poses a significant challenge in clinical management. Pituitary lesions are prevalent, affecting up to half of LCH patients, often resulting in endocrinopathies, whereas dural lesions are less frequent (5% of cases). The presence of parenchymal lesions, as observed in our case with a subcortical lesion in the right parietal lobe, is even rarer but may indicate a more severe prognosis. The diagnosis of CNS involvement, indicated by pachymeningitis and parenchymal lesion, along with the visualization of skull bone lesions, prompted chemotherapy initiation, reflecting disease progression to a multisystemic form. This case highlights the critical importance of early recognition and treatment of neurological manifestations in LCH to enhance clinical outcomes and mitigate associated mortality. Final comments: Central nervous system involvement in LCH is rare; however, it can present with various clinical manifestations, many of which impact patients’ quality of life and lead to a worse prognosis for the disease. Therefore, early recognition is crucial so that treatment can be effective in improving patient outcomes.

• Publication year

  2024

• Venue

  Arquivos de Neuro-Psiquiatria

• Publication date

  Unknown publication date

• Fields of study

  Not labeled

• Identifiers
  DOI 10.5327/cbn241016
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• No references are available for this paper.

• No citing papers are available for this paper.