Complicated SPG4 presenting with recurrent urinary tract infection.

J Community Hosp Intern Med Perspect

Dynamic Biologics Inc., R&D department, Monmouth Junction, NJ, USA.

Published: August 2020

We present a 62-year-old woman who developed recurrent urinary tract infections in her early fifties and, after an evaluation by an infectious disease physician, was referred for a neurological consultation. Her history and neurological examination were consistent with spastic paraparesis and there was significant family history of a variety of neurological diagnoses suggesting a genetic disorder. Whole exome genetic testing revealed a novel change, a c.508 C > T variant in the gene. Our genetic and protein modeling analysis suggest that this is a disease-producing mutation confirming the diagnosis of hereditary spastic paraplegia type 4 (SPG4). This patient expands the spectrum of mutations that can cause this disorder and demonstrate the importance of recognizing the role of neurological disorders in causing neurogenic bladder and recurrent urinary tract infections.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427448PMC
http://dx.doi.org/10.1080/20009666.2020.1785609DOI Listing

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