Diagnosis within a Diagnosis: An Unusual Case of Intracranial Hypertension

Emma Foster¹, Mastura Monif^{1, 2}, Kylie Mason³ and Anneke van der Walt^{1, 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

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

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.

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

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References:

[1]	Chester, W., “Lipidgranulomatose”, Virchows Arch Pathol Anat, 279, 561-602, 1930.
[2]	Arnaud, L., Hervier, B., Neel, A., Hamidou, M. A., Kahn, J-E., Wechsler, B. Perez-Pastor, G., Blomberg, B., Fuzibet, J-G., Dubourguet, F., Marinho, A., Magnette, C., Noel, V., Pavic, M., Casper, J., Beucher, A-B., Costedoat-Chalumeau, N., Aaron, L., Salvatierra, J., Graux, C., Cacoub, P., Delcey, V., Dechant, Cl., Bindi, P., Herbaut, C., Graziani, G., Amoura, Z., and Haroche, J., “CNS involvement and treatment with interferon-a are independent prognostic factors in Erdheim-Chester disease: a multicentre survival analysis of 53 patients”, Blood, 117(10), 2778-2782, March 2011.
[3]	Diamond, E.L., Dagna, L., Hyman, D., Cavalli, G., Janku, F., Estrada-Veras, J., Ferrarini, M. Abdel-Wahab, O., Heaney, M.L., Scheel, P.J., Feeley, N.K., Ferrero, E., McClain, K.L., Vaglio, A., Colby, T., Arnaud, L., Haroche, J., “Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease”, Blood, 124(4), 483-492, July 2014.
[4]	Parks, N., “Neurologic and cranial manifestations of Erdheim-Chester disease”, American Academy of Neurology Annual Meeting (Poster), P2.390, April 2017.
[5]	Alvis-Miranda, H. R., Castellar-Leones, S. M., Alcala-Cerra, G., Moscote-Salazar, L. R., “Cerebral sinus venous thrombosis”, J Neurosci Rural Pract, 4(4), 427-438, Oct-Dec 2013.