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Complicated SPG4 presenting with recurrent urinary tract infection

Content Provider	Scilit
Author	Oberoi, Kinsi Grewal, Kabir S. Peddareddygari, Leema Reddy
Copyright Year	2020
Description	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 SPAST 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.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427448/pdf
Ending Page	370
Page Count	2
Starting Page	369
ISSN	20009666
e-ISSN	20009666
DOI	10.1080/20009666.2020.1785609
Journal	Journal of Community Hospital Internal Medicine Perspectives
Issue Number	4
Volume Number	10
Language	English
Publisher	Informa UK Limited
Publisher Date	2020-07-03
Access Restriction	Open
Subject Keyword	Journal: Journal of Community Hospital Internal Medicine Perspectives Urology and Nephrology Spastic Paraplegia Type 4 Recurrent Urinary Tract Infection Neurological Disorders Spast Gene
Content Type	Text
Resource Type	Article
Subject	Internal Medicine

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