Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
BMJ Case Rep
; 14(3)2021 Mar 31.
Article
em En
| MEDLINE
| ID: mdl-33789861
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Coreia
/
Hipotireoidismo Congênito
/
Acidúria Argininossuccínica
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article