Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. Issue 3 (31st March 2021)

• Record Type: Journal Article
• Authors: Ediger, Krystyna; Hicks, Anne; Siriwardena, Komudi; Joynt, Chloe
• Is Part Of: BMJ case reports. Volume 14:Issue 3(2021)
• Publication Date: 2021-03-31
• Subjects: congenital disorders -- neonatal and paediatric intensive care; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2020-241032
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.