Abstract
A 56 year old man presented with several months of new onset headaches and blurred vision. Lumbar puncture revealed elevated intracranial pressure, but multiple cerebral imaging studies failed to identify a secondary cause. Eventually a formal venogram revealed a transverse venous sinus thrombosis, and an occult malignancy screen led to a diagnosis of non-Langerhans histiocytosis, or Erdheim-Chester Disease. This case highlights two important learning points: 1) secondary causes for raised intracranial pressure should be vigorously sought in atypical cases of idiopathic intracranial hypertension; 2) ECD is a rare but important cause of ophthalmologic and neurologic presentations, and should be a differential for orbital infiltration, intra- and extracranial disease.
Highlights
A 56 year old male presented to his family doctor with frequent headaches and blurred vision
He was diagnosed with possible idiopathic intracranial hypertension (IIH) and commenced on acetazolamide 250mg twice daily
Biopsy of a sclerotic bone lesion in the pelvis revealed histiocytes that were CD68 positive, CD1a negative, and BRAF V600E mutation positive. These findings were consistent with non-Langerhans histiocytosis, or Erdheim-Chester disease (ECD)
Summary
A 56 year old male presented to his family doctor with frequent headaches and blurred vision. Cite This Article: Emma Foster, Mastura Monif, Kylie Mason, and Anneke van der Walt, “Diagnosis within a Diagnosis: An Unusual Case of Intracranial Hypertension.” Neuro-Ophthalmology & Visual Neuroscience, vol 2, no. His past medical history consisted of the following: (1) systemic hypertension, (2) surgically treated left retinal detachment 28 years prior with residual visual acuity of 6/24 in that eye, and (3) hyperopia managed with reading glasses. Relevant examination findings included Frisen grade 1-2 papilledema (Figure 1) and reduced visual acuity of 6/9 in the right eye and 6/24-1 in the left eye.
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