Complicated SPG4 presenting with recurrent urinary tract infection

Autor: Kinsi Oberoi, Kabir S. Grewal, Leema Reddy Peddareddygari
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Journal of Community Hospital Internal Medicine Perspectives, Vol 10, Iss 4, Pp 369-370 (2020)
Druh dokumentu: article
ISSN: 2000-9666
20009666
DOI: 10.1080/20009666.2020.1785609
Popis: 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.
Databáze: Directory of Open Access Journals
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje