Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement

Area of Science:

• Neurology
• Oncology
• Radiology

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with diverse clinical manifestations affecting multiple organ systems.
• ECD commonly involves skeletal, neurological, and retroperitoneal systems, but its presentation can be highly variable.

Observation:

• A 45-year-old female presented with bilateral knee pain and homonymous superior quadrantanopia.
• Over one year, her condition progressed to ophthalmoplegia and complete left eye visual loss.
• Radiographic findings included bilateral patchy sclerosis in the distal femur and proximal tibiae, alongside brain MRI abnormalities.

Findings:

• Brain MRI revealed bilateral temporal lobe masses, pituitary stalk thickening, partially empty sella, and left cavernous sinus involvement.
• The patient's visual deficits stemmed from ECD affecting the mesial temporal lobe and subsequently the cavernous sinus.
• This case highlights an unusual ECD presentation with initial unilateral visual field defects.

Implications:

• The diagnosis of Erdheim-Chester disease should be considered in patients presenting with bilateral bone sclerotic lesions.
• Recognizing atypical neurological presentations of ECD, such as isolated visual disturbances, is critical for timely diagnosis and management.
• This case underscores the importance of integrating imaging findings with clinical presentation for diagnosing rare conditions like ECD.