An Unusual Cause of Respiratory Distress in Term Neonate.
Cureus
; 14(8): e27547, 2022 Aug.
Article
em En
| MEDLINE
| ID: mdl-36059358
ABSTRACT
We report a female infant who was born at 41+6 weeks of gestation to a consanguineous parent, and the initial newborn examination was within normal. At 12 hours of age, she developed tachypnea; with desaturation, she had continuous thick whitish oral secretion. Admitted to the neonatal intensive care unit (NICU) for further management, her initial blood investigation, including blood gas and chest X-ray, was normal. Due to the persistent unexplained respiratory distress with a normal chest X-ray, we obtained a further history from parents with three siblings with respiratory symptoms but no definitive diagnosis. The genetic testing of whole-exome sequences (WES) confirmed a homozygous variant c.804_806del, p.(Lys268del) in the RSPH9 gene that causes primary ciliary dyskinesia (PCD). Her three siblings were tested and found to have the same genetic mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Cureus
Ano de publicação:
2022
Tipo de documento:
Article