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, vol.117, no.4, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 117 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.5546/aap.2019.eng.e382
  • Journal Name: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Nemaline myopathy, muscle hypotonic, infant, newborn, L-tyrosine
  • Hacettepe University Affiliated: Yes

Abstract

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.