HYPOMYELINATING LEUKODYSTROPHY TYPE 10 IN AN ADULT: CASE REPORT
Abstract
OBJECTIVE: To describe a rare case of late-onset hypomyelinating leukodystrophy type 10 in an adult, highlighting clinical, diagnostic, and therapeutic aspects in correlation with the literature. METHODOLOGY: Observational, cross-sectional, and descriptive case report based on home visits, medical record analysis, and complementary examinations, associated with a literature review. The study was approved by the Research Ethics Committee, with informed consent obtained. RESULTS: A 51-year-old man presented with progressive spastic paraparesis, dysarthria, and dysphagia. Imaging examinations revealed hypomyelination and cortical atrophy, while whole-exome sequencing identified a homozygous variant in the PYCR2 gene. Management was symptomatic and multidisciplinary, with limited response. An atypical phenotype was observed, with late onset, slow progression, and preserved cognition. FINAL CONSIDERATIONS: The case broadens the phenotypic spectrum and reinforces the importance of clinical-radiological and molecular integration for diagnosis and management.
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