Key result
Muscle MRI in a 1-year-old girl with MDC1A demonstrated early-stage fatty infiltration and muscle atrophy, particularly in the gluteus maximus, erector spinae, and select lower limb muscles.
Why the study?
What are the characteristic muscle MRI findings in an infant with merosin-deficient congenital muscular dystrophy type 1A?
Case Report (n=1)
No
What are the characteristic muscle MRI findings in an infant with merosin-deficient congenital muscular dystrophy type 1A?
Muscle MRI can identify specific patterns of fatty infiltration and atrophy in early-stage MDC1A, serving as a noninvasive diagnostic tool that may delay the need for muscle biopsy.
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral. Gene sequencing demonstrated a heterozygous frame-shift mutation in the LAMA2 gene, consisting of an AG deletion at nucleotides 2049-2050 (LAMA2 c.2049_2050delAG). Lower limb muscle MRI presented obvious fatty infiltration of the muscles and muscle atrophy during the early stage of the disease. The gluteus maximus, erector spinae, vastus intermedius, vastus lateralis, adductor magnus, soleus and gastrocnemius muscles were involved, whereas the piriformis, obturator internus, pectineus, adductor longus, adductor brevis and sartorius muscles presented mild or no involvement. Fatty infiltration of the erector spinae was observed during the early stage of the disease. As an additional tool in the differential diagnosis of muscle disorders, muscle MRI can delay the need for muscle biopsy.
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Liang et al. (2017) conducted a case report in Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) (n=1). Muscle MRI was evaluated on Muscle MRI findings. Muscle MRI in a 1-year-old girl with MDC1A demonstrated early-stage fatty infiltration and muscle atrophy, particularly in the gluteus maximus, erector spinae, and select lower limb muscles.
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