| Identifier |
walsh_2020_s2_c2-slides |
| Title |
You're Too Young for That! (Slides) |
| Creator |
Sravanthi Vegunta, Kathleen Digre, Bradley Katz, Meagan Seay, Alison Crum, Edward Quigley, Sean Kennedy, Nick Mamalis, Judith Warner |
| Subject |
Autoimmune Diseases, 6th Nerve Palsy, Steroids, Sarcoidosis |
| History |
An 11-year old boy presented with right orbital pain for two months with recent double vision. He had no recent viral illnesses or sick contacts. He had no past medical history. His brother had Kawasaki disease; his paternal grandmother had rheumatoid arthritis; and his father died of a myocardial infarction at age 48. Our patient's exam showed only inability to abduct OD. Brain MRI showed dural thickening and enhancement along the right lateral cavernous sinus, right orbital apex, and tentorium. His lumbar puncture showed 6 white blood cells, 1 red blood cell, normal protein, glucose, and CSF ACE, and negative oligoclonal bands, gram stain, and cultures. The working diagnosis was Tolosa Hunt. He was started on high dose oral steroids with taper. Five months after initial presentation, he developed new right V2 numbness, complete right ophthalmoplegia, and weakness and numbness of his right hand and leg. These symptoms were again responsive to steroids. He had further workup that showed elevated ESR (44mm/hr), CRP (4.7mg/dL), and C4 (37mg/dL) while on oral steroids. He was hepatitis immune. Serum ACE, IgG4, B12, RF, ANA, quantiferon gold, VZV IgM, and cytometry were normal or negative. Repeat MRI brain showed decreased dural thickening. His symptoms resolved, and his disease was stable for 15 months. He returned with two weeks of left-sided headaches and acute diplopia, and on exam had; a left sixth nerve palsy. He also reported pain in his knees and ankles with mild swelling on exam. MRI Brain showed new hypertrophic pachymeningitis isolated to the right middle cranial fossa with slight extension superiorly overlying the lateral sulcus and frontal parietal junction. Extensive work up was negative: CSF Lyme, coccidioides, and aspergillus antibodies, meningitis/encephalitis PCR panel, CSF gram stain, culture, cytology, and cytometry, serum electrophoresis, dsDNA, RF, and lysozyme. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Our patient was diagnosed with sporadic Blau syndrome (SBS), also known as early onset sarcoidosis (EOS), with a mutation in NOD2 on chromosome 16. Classically, Blau syndrome was a familial disease with an autosomal dominant mutation in NOD2. EOS was considered distinct from Blau syndrome, since EOS occurred sporadically in children. However, with widespread genetic testing, it has become apparent that EOS and SBS are the same disease. SBS/EOS is an auto-inflammatory disease caused by gain-of-function mutations in the NOD domain. NOD2 is primarily expressed in peripheral leukocytes as an intracellular sensor of bacterial lipopolysaccharides. It activates nuclear factor-KB protein, which activates hundreds of other genes involved in immune response. Blau syndrome was simultaneously described in 1985 by both Blau and Jabs. Blau described a triad of granulomatous boggy polyarthritis, uveitis, and papuloerythematous rash; whereas, Jabs described polyarthritis with uveitis and cranial neuropathy without rash. Uveitis occurs in 80% to 85% of pa-tients and is typically a chronic bilateral granulo-matous iridocyclitis with posterior uveitis. Patients can eventually develop severe panu-veitis with multifocal choroiditis. In the largest case series of Blau syndrome (N=45) Rose et al. reported that patients with NOD2 mutations are more likely to have the triad of findings (75.5%). The phenotype has expanded over the last 30 years to include vasculitis, neuropathy, and liver, kidney, spleen, salivary gland, and other organ involvement. The prevalence and incidence of CNS findings in SBS/EOS is not reported due to the rarity of this disease. Sarcoidosis, and therefore neurosarcoidosis, is a distinct disease from SBS/EOS. |
| Date |
2020-03 |
| References |
1. Blau. Familial granulomatous arthritis, iritis, and rash, J Pediatr, 107, 689, 1985. 2. Gelfand, Bradshaw, Stern, Clifford, Wang, et al. Infliximab for the treatment of CNS sarcoidosis: A multi-institutional series, Neurology, 14, 2092, 2003. 3. Jabs, Houk, Bias, Arnett. Familial granulomatous synovitis, uveitis, and cranial neuropathies, Am J Med, 78, 801, 1985. 4. Kanazawa. [Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations], Nihon Rinsho Meneki Gakkai Kaishi, 30, 123, 2007. 5. Rosé, Aróstegui, Martin, Espada, Scalzi, et al. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain, Arthritis Rheum, 60, 1797, 2009. 6. Rosé, Pans, Casteels, Anton, Bader-Meunier, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes, Rheumatology (Oxford), 54, 1008, 2015. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Frank B. Walsh Session 2 |
| 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 84112-5948 |
| Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s622860b |
| Setname |
ehsl_novel_fbw |
| ID |
1551207 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s622860b |
