Orphanet J Rare Dis. 2025 Jun 21;20(1):316. doi: 10.1186/s13023-025-03786-1.
ABSTRACT
BACKGROUND: Ataxia-telangiectasia (A-T) is an inherited multiorgan disorder with onset in childhood. Liver involvement, with steatosis and subsequent fibrosis, is increasingly recognized in children and young people with A-T.
PURPOSE: To evaluate feasibility of T1-weighted two-point mDixon MRI for identification of liver steatosis in children with A-T and conduct exploratory analysis of relationships between MRI-quantified liver fat fraction and clinical and laboratory measures.
STUDY TYPE: Post hoc analysis of prospectively collected research data.
POPULATION: 16 participants (8 female) with A-T aged 4.8-16.6 years.
FIELD STRENGTH/SEQUENCE: 3.0-T, two-point T1-weighted mDixon.
ASSESSMENT: Participants underwent whole-body MRI including T1-weighted mDixon. Water/fat signal percentage images were generated. Hepatic T1 fat fraction (T1-FF) was calculated from regions-of-interest placed in the right anterior, right posterior and left hepatic lobes. T1-FF > 5.56% was used as the diagnostic criterion for hepatic steatosis.
STATISTICAL TESTS: Group comparisons of variables between participants with and without previous diagnosis of liver steatosis were made using independent sample Mann-Whitney U. Associations between T1-FF and age, neurological severity and of liver function tests were tested with Spearman correlation. Statistical significance was pre-specified as p < 0.05.
RESULTS: Analyzable T1-weighted mDixon data was available for 11 participants. Five MRI datasets were discarded due to motion artefact (n = 3) or incorrect archiving of the original water image (n = 2). Median liver T1-FF was 11.3% (4.7-49.7%), and 10/11 (91%) of participants had evidence of steatosis. Participants with previous diagnosis of steatosis had higher T1-FF than those without (median 32.7% [9.7-49.7%], versus 10.3% [4.7-11.3%], p = 0.030). T1-FF correlated most strongly with alanine transaminase (r = 0.76, p = 0.007) and γ-glutamyltransferase (r = 0.76, p = 0.006).
CONCLUSION: T1-weighted mDixon MRI is feasible for detecting steatosis in children with A-T, although motion artefacts reduced data completeness. MRI-quantified liver T1-FF correlates with markers of liver health. We found higher prevalence of liver steatosis using T1-weighted mDIXON than previously reported in pediatric A-T cohorts.
PMID:40542396 | DOI:10.1186/s13023-025-03786-1
