| Identifier |
walsh_2018_s3_c5 |
| Title |
Cold Fever - Video |
| Creator |
Shannon Beres |
| Affiliation |
(SB) Stanford University, Palo Alto, California |
| Subject |
Optic Disc Edema; Vision Loss; Visual Field |
| History |
A 34-year old rock-climbing-mountain man woke with bilateral painless blurry vision along with alternating conjunctival erythema and eyelid edema. A headache began without associated migrainous features. Prior history revealed an untreated mysterious ‘new form of TB' followed by the CDC at age 2 during a work-up for a large lymph node. He had an aunt with Hodgkin's lymphoma and no recent insect bites despite hiking internationally. His visual acuity was 20/70 OD, 20/50 OS and there was enlargement of both; blind spots. There was conjunctival injection and no cells in the anterior chamber or vitreous. He had significant disc elevation OU; with cotton wool spots, no hemorrhage, and bland appearing. A brain MRI was normal. He had elevated inflammatory markers (ESR 104) and leukocytosis (WBC 23). Lumbar puncture had normal opening pressure and showed an aseptic meningitis CSF WBC (456), protein (229). Extensive infectious and carcinomatous CSF work-up was negative and empiric treatment with antifungals and antibiotics were trialed until cultures returned negative. CSF metagenomics sequencing matched Borrelia hermisii, however; confirmatory testing was negative. That month, a pruritic head-sparing maculopapular rash appeared and he developed fleeting fevers triggered by cold, tinnitus, progressive severe sensorineural hearing loss, enlarged lymph nodes, and precipitous weight loss >35 lbs. During the hunt for cancer a PET/CT showed diffuse marrow activity and multiple lymph nodes with increased metabolic activity. Lymph node and bone marrow biopsies were negative. Skin biopsies of two different rashes came back as pityriasis rosea and psoriasis. Five months from presentation, his optic disc and vision remained stable and he was without a diagnosis. Repeat; MRI brain was performed showing new plaque-like dural enhancement and lacrimal enhancement. Lacrimal biopsy was negative. A; repeat bone marrow biopsy initially suggested a plasma cell neoplasm, but cytogenetics was negative. A genetic test was performed. |
| Disease/Diagnosis |
The final diagnosis was optic disc inflammation from cryopyrin-associated periodic syndrome (CAPS). |
| Presenting Symptom |
A 34-year old rock-climbing-mountain man woke with bilateral painless blurry vision along with alternating conjunctival erythema and eyelid edema. A headache began without associated migrainous features. Prior history revealed an untreated mysterious ‘new form of TB' followed by the CDC at age 2 during a work-up for a large lymph node. He had an aunt with Hodgkin's lymphoma and no recent insect bites despite hiking internationally. His visual acuity was 20/70 OD, 20/50 OS and there was enlargement of both; blind spots. There was conjunctival injection and no cells in the anterior chamber or vitreous. He had significant disc elevation OU; with cotton wool spots, no hemorrhage, and bland appearing. A brain MRI was normal. He had elevated inflammatory markers (ESR 104) and leukocytosis (WBC 23). Lumbar puncture had normal opening pressure and showed an aseptic meningitis CSF WBC (456), protein (229). Extensive infectious and carcinomatous CSF work-up was negative and empiric treatment with antifungals and antibiotics were trialed until cultures returned negative. CSF metagenomics sequencing matched Borrelia hermisii, however; confirmatory testing was negative. That month, a pruritic head-sparing maculopapular rash appeared and he developed fleeting fevers triggered by cold, tinnitus, progressive severe sensorineural hearing loss, enlarged lymph nodes, and precipitous weight loss >35 lbs. During the hunt for cancer a PET/CT showed diffuse marrow activity and multiple lymph nodes with increased metabolic activity. Lymph node and bone marrow biopsies were negative. Skin biopsies of two different rashes came back as pityriasis rosea and psoriasis. Five months from presentation, his optic disc and vision remained stable and he was without a diagnosis. Repeat; MRI brain was performed showing new plaque-like dural enhancement and lacrimal enhancement. Lacrimal biopsy was negative. A; repeat bone marrow biopsy initially suggested a plasma cell neoplasm, but cytogenetics was negative. A genetic test was performed. |
| Date |
2018-03 |
| References |
1. Cuisset L, Jeru I, Dumont B, et al, Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France, Ann Rheum Dis,70:495-9, 2011. 2. Kuemmerle- Deschner JB, Ozen S, Tyrrell PN, et al, Diagnostic criteria for cryopyrin-associated periodic syndrome, Ann Rheum Dis, Jun;76(6):942-947, 2017. 3. Kullenberg T, Lofqvist M, Leinonen M, et al, Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes, Rheumatology, Aug;55(8): 1499-506, 2016. 4. Lachmann HJ1, Kone-Paut I, Kuemmerle-Deschner JB, et al, Use of canakinumab in the crypopyrin-associated periodic syndrome. N Engl J Med, Jun 4;360(23):2416-25, 2016. 5. Aróstegui JI1, Lopez Saldaña MD, Pascal M,et al, A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. Arthritis Rheum, Apr;62(4):1158-66, 2016 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/Moving |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2018: Frank B. Walsh Session 3 |
| Collection |
Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-6076 |
| Rights Management |
Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6061jjr |
| Setname |
ehsl_novel_fbw |
| ID |
1320258 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6061jjr |
