Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate

Sahin S., Oncel M. Y., Bidev D., Okur N., TALİM B., Oguz S. S.

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.117, sa.4, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 117 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5546/aap.2019.eng.e382
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Nemaline myopathy, muscle hypotonic, infant, newborn, L-tyrosine
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. There is no curative treatment for nemaline myopathy. Therapeutic strategies for this condition are symptomatic and empirical. Herein, we present a newborn with severe respiratory failure and generalized muscle weakness, who was diagnosed as NM by muscle biopsy. The patient experienced remarkable decrease in sialorrhea and improvement of spontaneous movements after L-tyrosine treatment.