Jantima TanboonOranee SanmaneechaiSirirat CharuvanijTumtip SangruchiAngeles S. Galindo-FeriaIngrid E. LundbergYuko OhnukiTakashi ShiinaShigeaki SuzukiIchizo NishinoTokai University School of MedicineKeio University School of MedicineNational Institute of Neuroscience, KodairaKarolinska University HospitalNational Center of Neurology and Psychiatry KodairaFaculty of Medicine, Siriraj Hospital, Mahidol University2020-01-272020-01-272019-07-01Neuromuscular Disorders. Vol.29, No.7 (2019), 543-54818732364096089662-s2.0-85067210853https://repository.li.mahidol.ac.th/handle/20.500.14594/51583© 2019 Elsevier B.V. Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies. Muscle biopsy contained changes suggestive of myofiber necrosis and regeneration and reducing bodies. The diagnosis of reducing body myopathy was later confirmed by reported c.368A>G (p.His123Arg) mutation in the FHL1 gene. Although the level of association between these two conditions is still inconclusive, this is the first report of concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody with reducing body myopathy emphasizing the possibility of co-occurrence of immune mediated necrotizing myopathy and muscular dystrophy and importance of comprehensive diagnostic investigations in unusual cases.Mahidol UniversityMedicineArticleSCOPUS10.1016/j.nmd.2019.05.007