Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening

TL;DR

This study examines imaging findings in infants with mucopolysaccharidosis to detect early abnormalities and improve early diagnosis.

Contribution

The study introduces an integrated imaging assessment model for presymptomatic infants with MPS, revealing correlations between imaging and biochemical markers.

Findings

Cardiac abnormalities were most prevalent in MPS I infants.

Vertebral changes were more common in MPS IVA and MPS II infants.

Imaging findings correlated with specific biochemical markers like keratan sulfate and dermatan sulfate.

Abstract

Background/Objectives: Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders affecting multiple organ systems. Although newborn screening enables early detection, early comprehensive imaging assessment during pre-symptomatic stages remains poorly understood. This study analyzed skeletal radiographic and cardiac and abdominal ultrasonographic findings in infants diagnosed by newborn screening to establish an integrated imaging assessment model. Methods: This retrospective study examined 277 screen-positive cases (15 MPS I, 113 MPS II, 127 MPS IVA, and 22 MPS VI) identified through newborn screening between 2015 and 2024. All patients underwent standardized skeletal radiography and cardiac and abdominal ultrasonography. Imaging findings were analyzed in conjunction with biochemical markers and clinical parameters. Results: Cardiac abnormalities were most prevalent in MPS I (33.3% ASD/PFO), whereas vertebral changes were more common in MPS IVA (16.5%) and MPS II (15.9%). We observed a number of significant correlations: vertebral abnormalities correlated with keratan sulfate levels, cardiac manifestations with dermatan sulfate levels, and abdominal findings with enzyme activity levels and urinary dimethylene blue ratios. Conclusions: This systematic analysis of multiple imaging modalities in infants diagnosed with MPS by newborn screening demonstrates that significant abnormalities can be detected during the presymptomatic stage. Correlations between imaging findings and biochemical markers provide new insights for early diagnosis and monitoring, and support implementing comprehensive imaging protocols during the initial screen-positive cases evaluation.

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