Visual loss with Langerhans cell histiocytosis: multifocal central nervous system involvement

Area of Science:

• Neuro-oncology
• Endocrinology
• Histiocytosis

Background:

• Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disease of myeloid dendritic cells.
• Typical LCH presentations involve bone, skin, or lymph nodes, with central nervous system (CNS) involvement being less common.

Observation:

• A 42-year-old woman with a 6-year history of diabetes insipidus and progressive hypersomnolence presented with visual loss.
• Neuroimaging revealed hypothalamic, optic nerve, and chiasm infiltration, alongside multiple brain parenchymal lesions.
• Brain biopsy confirmed Langerhans cell histiocytosis.

Findings:

• This case represents an unusual presentation of LCH primarily affecting the CNS, specifically the visual pathways.
• The absence of extraneural manifestations in this patient is noteworthy.
• Magnetic resonance imaging (MRI) findings were crucial in identifying the extent of CNS infiltration.

Implications:

• Highlights the importance of considering LCH in the differential diagnosis of CNS lesions, particularly with concurrent endocrine and visual disturbances.
• Emphasizes the utility of advanced neuroimaging techniques like MRI in diagnosing rare CNS disorders.
• Suggests that LCH can present with isolated CNS involvement, necessitating a thorough diagnostic workup.