
Article in Japanese
A case of congenital nemaline myopathy presenting with respiratory failure in adulthood, which was required to differentiate from idiopathic scoliosis
Kumi Haradaa Tatsuyoshi Ikeueb Issei Oib Susumu Noguchib Akari Fukaob Satoshi Terashitab
aDepartment of Diagnostic Radiology, Japanese Red Cross Wakayama Medical Center
bDepartment of Respiratory Medicine, Japanese Red Cross Wakayama Medical Center
Nemaline myopathy is a congenital neuromuscular disorder characterized by nemaline bodies in the muscle fiber. Patients with nemaline myopathy frequently experience respiratory muscle weakness, but it is rare that adult patients are diagnosed with the initial symptoms of respiratory failure. The patient was a 38-year-old woman with severe scoliosis. She developed CO2 narcosis and needed artificial respiration. Initially, she was believed to suffer from the acute progression of chronic respiratory failure as a result of severe scoliosis. However, a high-arched palate was noticed, and a congenital disorder was suspected. A muscle biopsy was performed, which resulted in a diagnosis of nemaline myopathy. Patients with nemaline myopathy frequently experience complications of scoliosis. On the other hand, because respiratory failure can progress in patients with nemaline myopathy, we often overlook the presence of this disease. The performance of a thorough physical examination to make an accurate and timely diagnosis of congenital muscle disorders is therefore important.
Nemaline myopathy Respiratory failure Adult Non-invasive positive pressure ventilation
Received 30 May 2016 / Accepted 27 Oct 2016
AJRS, 6(2): 109-113, 2017