Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia.
Ann Thorac Med
; 17(2): 132-135, 2022.
Article
en En
| MEDLINE
| ID: mdl-35651895
ABSTRACT
A female-term neonate showed a severe respiratory distress syndrome (RDS) at hour 3 of life requiring her transfer to intensive care. She was intubated and started on assist-control mechanical ventilation associated with inhaled nitric oxide then high-frequency oscillation ventilation at day 12. Chest X-ray was gradually deteriorating. Chest computed tomography (CT) scan revealed diffuse interstitial lung disease. Flexible bronchoscopy excluded pulmonary alveolar proteinosis. The genetics study confirmed surfactant protein-B (SP-B) deficiency caused by the novel homozygous c.770T>C, p.Leu257Pro mutation in the SFTPB gene (NM_000542.5). Methylprednisolone pulse therapy was administered from day 20. As the infant worsened, azithromycin, sildenafil, and inhaled steroids were added at the age of 6 months and azathioprine at the age of 10 months. At the age of 12 months, chest CT showed diffuse "crazy-paving." The infant died of respiratory failure at the age of 13 months. Unexplained neonatal RDS should raise the suspicion of SP-B disease. This novel mutation could be part of the mutations allowing partial SP-B production result in prolonged survival. Lung transplant in infants, unavailable in numerous countries, remains the unique way to reverse the fatal outcome.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Ann Thorac Med
Año:
2022
Tipo del documento:
Article
País de afiliación:
Túnez