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L-tyrosine for treatment of an infant with nemaline rod myopathy
  1. Neha Dalal1,
  2. Kirti Naranje1,
  3. Amita Moriangthem2 and
  4. Anita Singh1
  1. 1Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  2. 2Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Anita Singh; dranitasinghk{at}gmail.com

Abstract

Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis. The histopathological examination shows the presence of rod-like structures or nemaline bodies in muscles. Management remains mainly supportive, and currently, there is no available curative treatment. This case report describes an infant presenting with gross hypotonia, poor handling of secretions and multiple extubation failures who was diagnosed by clinical exome sequencing. The patient harboured compound heterozygous variants in the NEB gene suggestive of nemaline rod myopathy. The newborn showed significant improvement in muscle strength after he was started on dietary L-tyrosine supplementation. This case highlights the emerging role of L-tyrosine in the supportive care of infants with nemaline rod myopathy.

  • Neurology (drugs and medicines)
  • Paediatrics (drugs and medicines)
  • Neonatal intensive care
  • Muscle disease

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: AS, ND, KN and AM. The following authors gave final approval of the manuscript: AS, ND, KN and AM.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.