Neuro-Ophthalmology & Visual Neuroscience
ISSN (Print): 2572-7257 ISSN (Online): 2572-7281 Website: Editor-in-chief: Carlo Aleci
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Neuro-Ophthalmology & Visual Neuroscience. 2017, 2(1), 1-3
DOI: 10.12691/novn-2-1-1
Open AccessArticle

Diagnosis within a Diagnosis: An Unusual Case of Intracranial Hypertension

Emma Foster1, Mastura Monif1, 2, Kylie Mason3 and Anneke van der Walt1, 4

1Department of Neurology, The Royal Melbourne Hospital, Parkville, Australia

2Department of Physiology, University of Melbourne, Parkville, Australia

3Department of Haematology, The Royal Melbourne Hospital, Parkville, Australia

4Melbourne Brain Centre at The Royal Melbourne Hospital, Department of Medicine, University of Melbourne, Parkville, Australia

Pub. Date: September 01, 2017

Cite this paper:
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. 2017; 2(1):1-3. doi: 10.12691/novn-2-1-1


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.

Papilloedema Erdheim-Chester Disease histiocytosis optic nerve fenestration elevated intracranial pressure proto-oncogene protein B-raf

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