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Muscle magnetic resonance imaging and histopathology in ACTA1‐ related congenital nemaline myopathy
Author(s) -
Castiglioni Claudia,
Cassandrini Denis,
Fattori Fabiana,
Bellacchio Emanuele,
D'Amico Adele,
Alvarez Karin,
Gejman Roger,
Diaz Jorge,
Santorelli Filippo M.,
Romero Norma B.,
Bertini Enrico,
Bevilacqua Jorge A.
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24353
Subject(s) - nemaline myopathy , muscle biopsy , magnetic resonance imaging , biopsy , pathology , histopathology , nebulin , anatomy , myopathy , medicine , tongue , radiology , sarcomere , myocyte , titin
: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary tool. Methods : We assessed the clinical, histopathological, MRI, and molecular findings in a 19‐year‐old patient with NM in whom 2 muscle biopsies with ultrastructural examination showed no nemaline bodies. We analyzed the degree and pattern of muscle MRI involvement of the entire body, including the tongue and pectoral muscles. Results : Muscle MRI abnormalities in sartorius, adductor magnus, and anterior compartment muscles of the leg suggested NM. A previously unreported fatty infiltration of the tongue was found. A third biopsy after the muscle MRI showed scant nemaline bodies. A novel heterozygous de novo ACTA1 c.611C>T/p.Thr204Ile mutation was detected. Conclusions : We highlight the contribution of muscle imaging in addressing the genetic diagnosis of ACTA1 ‐related NM. Muscle Nerve 50: 1011–1016, 2014