Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble

Jantima Tanboon, Oranee Sanmaneechai, Sirirat Charuvanij, Tumtip Sangruchi, Angeles S. Galindo-Feria, Ingrid E. Lundberg, Yuko Ohnuki, Takashi Shiina, Shigeaki Suzuki, Ichizo Nishino

研究成果: Article

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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.

元の言語English
ページ(範囲)543-548
ページ数6
ジャーナルNeuromuscular Disorders
29
発行部数7
DOI
出版物ステータスPublished - 2019 7

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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    Tanboon, J., Sanmaneechai, O., Charuvanij, S., Sangruchi, T., Galindo-Feria, A. S., Lundberg, I. E., Ohnuki, Y., Shiina, T., Suzuki, S., & Nishino, I. (2019). Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. Neuromuscular Disorders, 29(7), 543-548. https://doi.org/10.1016/j.nmd.2019.05.007