Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease

• DOI: 10.1016/j.gim.2022.10.005
• Publication Date: 2022-11-18T01:45:54Z
• Authors: Yu-Kang Hsu; Yin-Hsiu Chien; Steven Shinn-Forn...; Wuh-Liang Hwu; Wang-Tso Lee; Ni-Chung Lee; Eric Po-Yu Huang; Wen-Chin Weng
• Keywords: Adult; Adolescent; Glycogen Storage Disease Type II; Infant, Newborn; Intermediate Filaments; Infant; Brain; White Matter; Magnetic Resonance Imaging; 3. Good health; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Child, Preschool; Humans; Child; Biomarkers

PurposeThe study aimed to describe central nervous system (CNS) progression in patients with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact predictors.MethodsPatients IOPD treated enzyme replacement therapy were longitudinally followed brain magnetic resonance imaging (MRI) evaluation for IQ scores from 2004 2021. Investigation of CNS involvement focused on white matter (WM) abnormalities was quantified using a scoring metachromatic leukodystrophy. MRI correlated plasma neurofilament light chain (NfL) concentration scores.ResultsA total 19 who started at mean age 26 days analyzed; median last examination 12.1 (range = 1.7-19) years. found all patients, supratentorial WM U-fibers, then infratentorial WM, eventually gray matter. progressed (n 16) variable rates 0.8-2.7/y) positively negatively 8). Plasma NfL (r2 0.8569; P < .001; n 13).ConclusionOur results suggest that may be associated neuroaxonal injury decreased scores. could serve as biomarker IOPD.