| Identifier |
walsh_2018_s3_c2 |
| Title |
It's Always Been Like That - Video |
| Creator |
Eric Gaier; William Butler; Joseph Rizzo |
| Affiliation |
(EG) (JR) Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; (WB) Massachusetts General Hospital, Boston, Massachusetts |
| Subject |
Papilledema; Intracranial Tumors; Pediatric; Headaches; Ptosis |
| Description |
MRI showed a 6 cm left frontal enhancing mass causing significant mass effect and displacement of the optic chiasm (Figure 3). CSF cleft and white matter buckling signs suggested an extra-axial origin of the tumor. The patient underwent subtotal neurosurgical resection (80-90%) of the mass, which was felt intraoperatively to be an intraparenchymal tumor without adhesion to the skull base. Histopathologic analysis of the tissue revealed nests of epithelioid cells positive for MART-1 and MITF (Figure 4). Additional stains including GFAP, synaptophysin, Olig2, EMA, PR, Oct3/4, AE1.3/CAM5.2, and desmin were negative. The tumor was positive for pathogenic variants in GNAQ (including Arg183Gln), which are reported to occur in 50% of uveal melanomas Co-Authors[1]. A complete skin examination revealed no evidence of a primary cutaneous melanoma. Follow up examination 3 weeks later revealed stable afferent function, normal intraocular pressures, significant improvement in papilledema, and no evidence of focal lesions in the peripheral fundus. In the following months, the patient graduated high school. He underwent radiation and 4 cycles of ipilimumab and nivolumab that were complicated by high-grade fevers, hemolytic anemia, and that responded to corticosteroid therapy. MRI of the cervical spine 5 months after his initial presentation showed new diffuse nodular leptomeningeal enhancement consistent with metastases that was confirmed on cytology of cerebral spinal fluid. The patient was later hospitalized with headaches and confusion and repeat MRI of the brain showed evidence of hydrocephalus secondary to progressive leptomeningeal disease. A ventriculoperitoneal shunt was placed. Shortly thereafter, the patient had a tonic seizure and hypoxic respiratory failure requiring intubation. A new tumor focus was found near the intracranial portion of the shunt and the shunt was revised. Following extubation and discussion with the family, the patient was discharged home with Hospice care and passed away 1 month later. |
| History |
An 18 year-old Caucasian boy presented with left upper eyelid ptosis, headaches, and iris heterochromia. The patient and his family reported the left iris being darker than the right since early childhood. Over the 5 years preceding his presentation, the patient's mother noted progressive ptosis of his left upper eyelid. A top student in middle school, his grades had declined through high school, and his family had noticed loss of motivation mixed with intermittent irritability and mood changes. The patient developed headaches 2 years prior that had been worsening steadily and culminated over the preceding week in severity with daily episodes of nausea and vomiting. He noticed increased thirst and voiding frequency and had felt fatigued. He gained 25 lbs in the preceding 3 months. The patient was initially prescribed sumatriptan and cyproheptadine for presumed migraines without symptomatic benefit. In the week prior to presentation, the left side of his face began to droop and he developed binocular, horizontal diplopia. A CT head was abnormal, and the patient was referred for evaluation and admission. External examination revealed ptosis of the left upper eyelid and slate grey circumferential coloration of the sclera (Figure 1). The right iris was hazel, and the left was dark brown. The pupils were equal and reactive without a relative afferent defect. Visual acuities were 20/20 OU without dyschromatopsia or metamorphopsia. Abduction of the left eye was mildly limited, and there was subtle left facial weakness. Automated visual field testing showed enlarged blind spots bilaterally. Funduscopic examination was significant for papilledema with peripapillary flame hemorrhages OU and a striking interocular diffuse choroidal pigmentation disparity with the left eye being darker than the right (Figure 2). The patient was treated with corticosteroids with improvement of his headache and resolution of diplopia. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Primary central nervous system melanoma, likely leptomeningeal, in association with Nevus of Ota |
| Presenting Symptom |
An 18 year-old Caucasian boy presented with left upper eyelid ptosis, headaches, and iris heterochromia. The patient and his family reported the left iris being darker than the right since early childhood. Over the 5 years preceding his presentation, the patient's mother noted progressive ptosis of his left upper eyelid. A top student in middle school, his grades had declined through high school, and his family had noticed loss of motivation mixed with intermittent irritability and mood changes. The patient developed headaches 2 years prior that had been worsening steadily and culminated over the preceding week in severity with daily episodes of nausea and vomiting. He noticed increased thirst and voiding frequency and had felt fatigued. He gained 25 lbs in the preceding 3 months. The patient was initially prescribed sumatriptan and cyproheptadine for presumed migraines without symptomatic benefit. In the week prior to presentation, the left side of his face began to droop and he developed binocular, horizontal diplopia. A CT head was abnormal, and the patient was referred for evaluation and admission. External examination revealed ptosis of the left upper eyelid and slate grey circumferential coloration of the sclera (Figure 1). The right iris was hazel, and the left was dark brown. The pupils were equal and reactive without a relative afferent defect. Visual acuities were 20/20 OU without dyschromatopsia or metamorphopsia. Abduction of the left eye was mildly limited, and there was subtle left facial weakness. Automated visual field testing showed enlarged blind spots bilaterally. Funduscopic examination was significant for papilledema with peripapillary flame hemorrhages OU and a striking interocular diffuse choroidal pigmentation disparity with the left eye being darker than the right (Figure 2). The patient was treated with corticosteroids with improvement of his headache and resolution of diplopia. A diagnostic procedure 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/MovingImage |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2018 |
| 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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6cc538f |
| Setname |
ehsl_novel_fbw |
| ID |
1320255 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6cc538f |
