MY-OH-MY Just a Drop will Do

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Identifier walsh_2024_s1_c4
Title MY-OH-MY Just a Drop will Do
Creator Mark Aurel Nagy; John Gonzales; Thuy Doan; Jay Stewart; Annemieke Vanzante; Nailyn Rasool
Affiliation (MAN) (JG) (TD) (JS) (AV) UCSF; (NR) University of California, San Francisco
Subject Whipple's Disease; Uveitis; Oculomasticatory Myorhythmia (Whipple''s)
Description A 45-year-old man presented with progressive loss of vision. Six months prior, he underwent cataract surgery in both eyes with subsequent development of refractory inflammation and intraocular pressures greater than 40 mmHg despite maximal medical therapy. He underwent bilateral trabeculectomies, scarring secondary to persistent inflammation and necessitating the placement of ahmed valves bilaterally. His intraocular inflammation was managed with topical and oral steroids and he was referred to uveitis who began an extensive work-up for this refractory inflammation. The patient endorsed headaches, depression, forgetfulness, low libido and weight loss. His medical history was unremarkable except for undercooked pork consumption monthly and travel to Mexico 5 years prior. On examination, the patient was somnolent and responded slowly. He had continuous hiccups and chewing movements of his mouth. His visual acuity was 20/80 OD and count fingers at 1 foot OS. Pupils were fixed and poorly reactive. His eye movements had partial limitation in all directions of gaze and extremely slow saccades. Anterior segment examination demonstrated moderate keratic precipitates bilaterally and diffuse anterior segment inflammation (Figure 1). Posterior segment examination demonstrated vitreous cell bilaterally with significant cupping and pallor of his optic nerves and scattered macular exudates. (Figure 2). Cranial nerve, motor and sensory examinations were normal. Optical coherence tomography of the retina demonstrated preretinal precipitates (Figure 3). MRI revealed bilateral optic nerve atrophy and an 8-mm enhancing hypothalamic/infundibular nodule with infiltration along the inferior aspect of the optic chiasm (Figure 4). Endocrine serology was notable for a slightly elevated prolactin (46.2 μg/L [normal range, 2.0 to 18.0 μg/L]). Serologic interferon-Ɣ, Lyme antibody, treponemal antibody, and rapid plasma reagin were all negative. Chest radiography was normal. Cerebrospinal fluid analysis demonstrated normal (4) white cells with 10% neutrophils, protein, glucose and no oligoclonal banding and negative cultures. A diagnostic test was then performed.
History The patient initially presented with progressive intraocular inflammation and uveitic glaucoma. He reported headaches, weight loss, depression and changes in his libido. Upon examination, the patient's mental status was altered, being somnolent, slow to answer questions, with continuous hiccups and masticatory myorrhythmia. Initial serologic and cerebrospinal fluid cultures were unremarkable. Repeat MRI redemonstrated the 8-mm hypothalamic/infundibular nodule with stable infiltration of the chiasm without other abnormalities. Neurosurgical biopsy was considered as the finding was felt to be consistent with granulomatous or neoplastic processes but was delayed due to urgent glaucoma intervention. A diagnostic pars-plana vitrectomy was performed with negative bacterial, fungal, viral, and toxoplasma, and flow cytometry. Cytopathology demonstrated histiocytes with rare mature-appearing lymphocytes (Figure 5). Aqueous PCR was negative for HSV/VZV/CMV/toxoplasma were all negative. At this time a previously submitted aqueous humor diagnostic study resulted demonstrating the presence of Tropheryma whipplei. Repeat cytopathologic, serologic, and CSF studies were obtained and confirmed the diagnosis of Whipple's Disease. Ocular manifestations of Whipple's disease are extremely rare. In the absence of more traditional symptoms including gastrointestinal abnormalities and arthralgia, time to diagnosis can be significantly delayed with progression of the disease. This patient was enrolled in an IRB-approved clinical study for the detection of infectious pathogens by metagenomic next-generation sequencing. This approach identified T. Whipplei DNA in the otherwise negative aqueous humor sample (Figure 6). As directed molecular diagnostics for T. whipplei do not exist for ocular tissues outside of research laboratories, this case represents an exciting demonstration of the power and utility of this approach for the diagnosis of culture-negative ocular inflammation. Other features in his presentation that assisted with the diagnosis were the masticatory myorhythmia and the presence of periodic acid-Schiff staining histiocytes in the vitreous humor which are highly suggestive of Whipple's disease (Figure 7).
Disease/Diagnosis Whipple's disease resulting in diffuse bilateral uveitis and detected by metagenomic sequencing of the aqueous humor.
Date 2024-03
References Gonzales J, Doan T, VanZante A, Stewart JM, Sura A, Reddy A, Rasool N. Detection of Tropheryma whipplei Genome From the Aqueous Humor by Metagenomic Sequencing. Ann Intern Med. 174(9): 1329-1330. Lagier JC, Lepidi H, Raoult D, Fenollar F. Clinical Presentation of 142 Patients With Infections Diagnosed or Confirmed in a Reference Center. Medicine. 89(5): 337-345. Doan T, Sahoo MK, Ruder K, Huang CH, Zhong L, Chen C, Hinterwirth A, Lin C, Gonzales J, Pinsky BA, Acharya NR.Comprehensive pathogen detection for ocular infections. J Clin Virol. 136. 2021.
Language eng
Format video/mp4
Type Image/MovingImage
Source 2024 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of 2024 Frank B. Walsh Sessions: Session I
Collection Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2024. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6mj5xxf
Setname ehsl_novel_fbw
ID 2592817
Reference URL https://collections.lib.utah.edu/ark:/87278/s6mj5xxf
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