SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib
Year: 2024
Type: article
Study design: Case Report
Abstract: Objectives: variants and describe potential treatment. Methods: -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression. Results: gene resulting in a missense alteration (p. Gly437Arg). The patient was treated with cobimetinib with clinical, serologic, and radiographic improvement at 1-month follow-up. Discussion: disease and neurologic signs or symptoms should undergo screening MRI for CNS involvement. MEK inhibition represents a novel treatment for this disorder.
Source: Neurology Genetics
Authors: Samantha A. Banks, Jithma P. Abeykoon, Karen Rech, Pearse Morris, Queenie K.G. Tan, Larissa N. Veres, Kimberly L. Schoonover, Allen J. Aksamit, Gesina F. Keating, Narayan Kissoon, Sindhuja Sominidi Damodaran, Hasina S. Maredia, Caroline J. Davidge-Pitts, Jose C. Villasboas, Ronald Go, W. Oliver Tobin
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,300
Funder: National Institutes of Health
OpenAlex ID: W4403383260