| Identifier |
walsh_2022_s1_c5 |
| Title |
WD-40: A Multi-Use Product |
| Creator |
Georgia Kaidonis, Melike Pekmezci, Jessica Van Ziffle, Jonathan Horton |
| Subject |
optic nerve tumors, cranial dysostoses (craniosynostosis), optic disc edema, bilateral vision loss, intracranial; tumors |
| History |
A 15-year-old female with a history of syndactyly, brachydactyly and patent ductus arteriosus presented with declining; vision and new onset of headache. She was referred for neuro-ophthalmology evaluation. Best corrected acuity was 20/40; in the right eye and 20/100 in the left eye. The pupillary reflexes were normal. No Marcus Gunn pupil was present. The; extraocular eye movements were full. Automated visual field tests revealed severe depression in both eyes. Slit lamp; examination and intraocular pressure were unremarkable. Dilated fundus examination revealed bilateral optic disc swelling.; There were features that suggested chronicity, such as pallor and pseudo-drusen. Cranial examination was notable for; scaphocephaly with frontal bossing. Neurologic examination including cranial nerves was otherwise unremarkable.; Neuroimaging revealed extensive previously undiagnosed developmental anomalies. There was absence of the sagittal; suture, with resulting scaphocephaly on CT (Fig. 1A). Non-contrast MRI showed a constellation of abnormalities including:; small posterior fossa, platybasia, cerebellar tonsillar herniation, narrow foramen magnum, hypoplasia of the posterior; corpus callosum, and pronounced enlargement of the sella turcica with an elongated pituitary stalk and partially empty; appearance (Fig. 1B). Calcification was present along the inferior border of the falx cerebri and at its junction with the; tentorium (Fig. 1C). Post-gadolinium MR imaging disclosed diffuse nodular thickening of the leptomeninges extending; bilaterally from the cerebellopontine angles down through the foramen magnum. The contrast-enhancing mass encased; the brainstem (Fig. 2A,B). There was thickening and enhancement of the petroclival ligaments, caverno-apical triangles, and; tuberculum sellae (Fig. 3A). The abnormal dural enhancement extended through the optic canals to involve both optic; nerve sheaths (Fig. 3B). Blood tests and cerebrospinal fluid analysis were negative for an infectious, inflammatory, or; neoplastic process. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Somatic mosaicism for a TRAF7 mutation, causing dural meningiomatosis (including bilateral optic nerve sheath; meningiomas), craniosynostosis, syndactyly, brachydactyly, and patent ductus arteriosus in a child |
| Date |
2022-02 |
| References |
1. Bi WL, Greenwald NF, Abedalthagafi M, et al. Genomic landscape of high-grade meningiomas, Npj Genom Medicine, 2,; 15, 2017.; 2. Ho C, Mosier S, Safneck J, et al. Genetic Profiling by Single-Nucleotide Polymorphism-Based Array Analysis Defines Three; Distinct Subtypes of Orbital Meningioma. Brain Pathol, 25, 193-201, 2015.; 3. Clark VE, Erson-Omay EZ, Serin A, et al. Genomic analysis of non- NF2 meningiomas reveals mutations in TRAF7 , KLF4 ,; AKT1 , and SMO. Science, 339, 1077-1080, 2013.; 4. Consortium UDN Care4Rare Canada, Castilla-Vallmanya L, Selmer KK, et al. Phenotypic spectrum and transcriptomic; profile associated with germline variants in TRAF7. Genet Med, 22, 1215-1226, 2020.; 5. Tokita MJ, Chen C-A, Chitayat D, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital; Anomalies, and Dysmorphic Features. Am J Hum Genetics, 103, 154-162, 2018. |
| Format |
application/pdf |
| Type |
Text |
| Source |
54th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Walsh Session I |
| Publisher |
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/s6e5nmff |
| Contributor Primary |
Georgia Kaidonis, MD, PhD |
| Contributor Secondary |
Melike Pekmezci, Jessica Van Ziffle, Jonathan Horton |
| Setname |
ehsl_novel_fbw |
| ID |
2100233 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6e5nmff |
