A 5-year-old girl case of spastic paraplegia type 56, a mutation in the CYP2U1 gene

Abstract

This case report details the presentation, diagnosis, and management of a 5-year-old girl from Saudi Arabia with Spastic Paraplegia Type 56 (SPG56) resulting from a novel mutation in the CYP2U1 gene. SPG56, a rare form of hereditary spastic paraplegia, exhibits genetic variability, impacting neurological and extra-neurological functions. The patient's clinical course involved a fall at age 2, subsequent motor deterioration, cognitive delays, and spasticity. Comprehensive diagnostic evaluations, including genetic testing, identified a homozygous likely pathogenic variant in CYP2U1. Despite outpatient therapy, the patient underwent a four-week intensive rehabilitation course to address spasticity and enhance daily living activities. This case highlights the challenges in diagnosing and managing SPG56 and underscores the importance of genetic testing in complex neurodegenerative cases.