Abstract
BackgroundPatients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive.Materials and methodsA cohort of classic IOPD patients who were diagnosed through newborn screening were treated with recombinant human acid α-glucosidase (rhGAA) and followed prospectively from birth. The trunk (and abdominal wall), pelvis and upper thighs were scanned for muscle MRI every 2–3 years. Seven groups of muscles were individually scored from 0 to 4 based on the extent of their involvement, and the sum was correlated to the clinical manifestations.ResultsTwenty-four MRI scans from a total of 12 neonatally treated IOPD patients were analyzed in the present study. The median age at the time of MRI scanning was 4.2 years (13 days to 9 years). High intensity over the quadriceps on T2-weighted and short-tau inversion recovery images was observed in all scans and was followed by a decrease in muscle mass. Trunk muscle involvement was slower, except in one patient who exhibited progressive psoas atrophy. Among the 10 patients for whom follow-up scans were repeated more than 2 years after the first scan, four patients (40 %) showed increased myopathy severity.ConclusionThis prospective muscle MRI study provides evidence for the occurrence of slow, progressive muscle damage in neonatally treated IOPD patients during childhood. New treatment strategies are necessary to improve outcomes in these patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0446-7) contains supplementary material, which is available to authorized users.
Highlights
Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients
All of the patients tested positive for cross-reactive immune material (CRIM), and none of the patients exhibited sustained high titers of anti-recombinant human GAA (rhGAA)
The median age at the time of magnetic resonance imaging (MRI) scanning was 4.2 years, with the first MRI scan performed at 13 days to 6 years of age, and the latest performed at 7 months to 9 years of age
Summary
Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. To achieve early diagnosis and treatment, we initiated a large-scale population newborn screening program for Pompe disease in 2005 [5] This program successfully identified patients with classic infantile-onset Pompe disease (IOPD), and patients with late-onset Pompe disease (LOPD). Magnetic resonance imaging (MRI) has shown initial success in detecting abnormalities in multiple muscle groups that are frequently involved in late-onset Pompe disease [11], even before physical examination [12], and these measurements could serve as indicators of disease progression.
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