Article Text

Download PDFPDF
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency
  1. Krystyna Ediger1,
  2. Anne Hicks1,
  3. Komudi Siriwardena2 and
  4. Chloe Joynt1
  1. 1Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
  2. 2Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
  1. Correspondence to Dr Krystyna Ediger; kediger{at}


Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient’s presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.

  • congenital disorders
  • neonatal and paediatric intensive care

Statistics from


  • Contributors KE, AH, KS and CJ were involved in patient management. KE wrote the manuscript. AH, KS and CJ critically revised the manuscript. All authors have approved the final version of the article submitted.

  • 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.

  • Competing interests None declared.

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

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.