Abstract:

Intranuclear rods myopathy (IRM), a variant of nemaline myopathy (NM), is characterized by rod structure in the myonuclei. Patients with IRM present with similar symptoms to those of severe infantile-type NM but have worse outcome. Several extramuscular manifestations have been reported in NM but no dysautonomia. We herein report a 2-year-old girl with IRM and a heterozygous mutation, c.430C>T (p.L144F) in ACTA1. During the infancy, the patient showed severe diaphoresis and facial flushing. Arrhythmia and hypertension with the precipitating factors of feeding, defecation, and urination were observed. Sympathetic antagonist was prescribed and showed some effectiveness. Our report may widen the clinical spectrum of IRM. It also reminds clinicians that autonomic dysfunction may occur in patients with IRM or other actinopathies and appropriate treatment may be necessary.

日本語要旨:

ACTA1遺伝子のc430C>T (pL144F)変異を伴う核内桿状体ミオパチーの2歳女児を報告した。乳児期には重度の発汗と顔面紅潮を呈した。食事、排便、排尿などを景気とする不整脈と高血圧も見られた。核内桿状体ミオパチー患者において自律神経異常を認める可能性があることには注意が必要である。