NOVEL - Frank B. Walsh Collection

Pseudo-Pseudotumor Cerebri?

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Identifier walsh_2022_s3_c4
Title Pseudo-Pseudotumor Cerebri?
Creator Etienne Benard-Seguin; Abdullah Al-Ani; Kris Langdon; Rajiv Midha; Paula de Robles; Fiona Costello
Affiliation (EB) (AA) (KL) (RM) (PR) (FC) University of Calgary, Calgary, Canada
Subject intracranial tumors, increased intracranial pressure, vision loss, complications of cancers
Description A 23-year-old female to male transgender patient (BMI=30) on testosterone therapy presented to the urgent clinic with bilateral disc swelling and preserved optic disc function (Figure 1a-1b). He had a 5 day history of general malaise. Past medical history was pertinent for scoliosis surgery at age 14 in Brazil with an incidental discovery and subsequent resection of a pilocytic astrocytoma.
History A 23-year-old female to male transgender patient (BMI=30) on testosterone therapy presented to the urgent clinic with; bilateral disc swelling and preserved optic disc function (Figure 1a-1b). He had a 5 day history of general malaise. Past; medical history was pertinent for scoliosis surgery at age 14 in Brazil with an incidental discovery and subsequent resection; of a pilocytic astrocytoma. The patient was admitted to hospital for investigation of causes of intracranial hypertension. He; underwent an MRI scan of the brain and spine that demonstrated features of a communicating hydrocephalus and; leptomeningeal enhancement along the surface of brainstem, inferior hypothalamus and spinal cord, as well as evidence of; prior laminectomies (Figure 2a-c). The patient reported worsening headache and diplopia that were relieved by lumbar; puncture, which showed elevated protein (3.10 g/L) and a high opening pressure (33 cmH2O). Further bacterial and viral; analysis was negative. Two weeks after discharge, the patient became obtunded and was readmitted to hospital. A; ventriculoperitoneal shunt was inserted and a leptomeningeal biopsy was performed which revealed dense connective; tissue with chronic reactive change with no signs of malignancy. In the following 6 months, the patient was admitted to; hospital twice for headaches and tonic-clonic seizures. He was assessed in the Neuro-Ophthalmology clinic and found to; have a severely depressed automated visual field in the right eye, mild depression in the left eye, and bilateral disc pallor.; Acetazolamide therapy was not initiated. He was readmitted to hospital and a repeat leptomeningeal biopsy and culture; was performed. The culture was positive for C.Acnes which was presumed to have caused an indolent leptomeningeal; process. The patient completed a 6 week course of Ceftriaxone with no improvement.
Disease/Diagnosis Repeat leptomeningeal biopsy was performed leading to a final diagnosis of diffuse leptomingeal glioneuronal tumour; (Figure 3a-c), aided by consultation with an out of province laboratory. The patient was started on palliative chemotherapy; (temozolomide), but has experienced continued neurological decline in terms of cognition and ambulation. Diffuse; leptomeningeal glioneuronal tumors (DLGNTs) are rare central nervous system (CNS) tumors that are considered to be a; new entity of mixed neuronal-glial tumors [1]. These tumors were first added to the World Health Organization (WHO); classification of CNS tumors in 2016 and have yet to be assigned a grade due to the limited number of reported cases [2,3].; This inclusion occurred after a growing number of cases of tumors that had neuronal appearance with glial components [1].; In these cases, DLGNTs occurred more in males than females and occurred preferentially in children [4]. On neuroimaging,; these tumors appear as a prominent leptomeningeal enhancement with or without communicating hydrocephalus [5].; These tumors can present with a variety of clinical manifestations leading to misdiagnosis. In the literature, cases have been; reported of it being confused with Neuromyelitis Optica Spectrum Disorder (NMOSD) and tuberculous meningitis [5,6].; Additionally, DLGNTs can also manifest with fulminant ICH leading to vision loss [6], as was seen in our case. Most of the; cases reported in the literature are low-grade, indolent tumors with a low mitotic index [7]. In our patient, the combination; of BRAF fusion and 1p19q were supportive of a diagnosis of DLGNT [8]. Our patient also had a whole arm two copy gain of; 1q which conferred a poor prognosis [9]. Finally, there have been reports of DLGNT erroneously being diagnosed as a; Pilocytic astrocytoma, a plausible scenario in our case [4].
Date 2022-02
References 1. Kang, J.H.; Buckley, A.F.; Nagpal, S.; Fischbein, N.; Peters, K.B. A Diffuse Leptomeningeal Glioneuronal Tumor Without; Diffuse Leptomeningeal Involvement: Detailed Molecular and Clinical Characterization. J. Neuropathol. Exp. Neurol. 2018,; 77, 751-756, doi:10.1093/jnen/nly053.; 2. Villa, C.; Miquel, C.; Mosses, D.; Bernier, M.; Di Stefano, A.L. The 2016 World Health Organization classification of; tumours of the central nervous system. Presse Med. 2018, 47, e187-e200, doi:10.1016/j.lpm.2018.04.015.; 3. Louis, D.N.; Perry, A.; Reifenberger, G.; von Deimling, A.; Figarella-Branger, D.; Cavenee, W.K.; Ohgaki, H.; Wiestler, O.D.;; Kleihues, P.; Ellison, D.W. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a; summary. Acta Neuropathol. 2016, 131, 803-820, doi:10.1007/s00401-016-1545-1.
Language eng
Format application/pdf
Format Creation Microsoft PowerPoint
Type Text
Source 54th Annual Frank Walsh Society Meeting
Relation is Part of NANOS Annual Meeting 2022
Collection Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6tkcfh7
Setname ehsl_novel_fbw
ID 2192221
OCR Text Show
Reference URL https://collections.lib.utah.edu/ark:/87278/s6tkcfh7