Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Sibling cases of four and a half LIM domains 1 (FHL1) myopathy who developed respiratory failure without apparent limb weakness

Kenta Aohara, M.D.1), Hiroko Kimura, M.D.1), Akitoshi Takeda, M.D., Ph.D.1), Yasuhiro Izumiya, M.D., Ph.D.2), Ichizo Nishino, M.D., Ph.D.3) and Yoshiaki Itoh, M.D., Ph.D.1)

1) Department of Neurology, Osaka City University Graduate School of Medicine
2) Department of Cardiology, Osaka City University Graduate School of Medicine
3) Department of Neuromuscular Research, National Center of Neurology and Psychiatry

A 60-year-old man developed dyspnea without apparent limb weakness. He had cardiomyopathy in his 30s and was treated for chronic heart failure since 42. He was diagnosed as having four and a half LIM domains 1 (FHL1) mutation at 53 following the same diagnosis of his younger brother. He was first admitted to the cardiology department for possible worsening of chronic cardiac failure. Blood gas analysis showing respiratory acidosis prompted his treatment with a respirator. Neurological examination revealed that he had mild weakness limited to the shoulder girdle muscles and contracture at jaw, spine, elbows and ankles. Skeletal muscle CT showed truncal atrophy. He, as well as his younger brother, was diagnosed with FHL1 myopathy resulting in ventilation failure and was discharged after successful weaning from the respirator in the daytime. The present sibling cases are the first with FHL1 mutation to develop respiratory failure without limb weakness and suggest that FHL1 myopathy as a differentially diagnosis of hereditary myopathies with early respiratory failure.
Full Text of this Article in Japanese PDF (1031K)

(CLINICA NEUROL, 62: 726－731, 2022)
key words: hereditary myopathy, cardiomyopathy, cardiac failure, joint contracture, respiratory muscle weakness

(Received: 11-Mar-22)