Annals of Thoracic Medicine Official publication of the Saudi Thoracic Society, affiliated to King Saud University
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Year : 2022  |  Volume : 17  |  Issue : 2  |  Page : 132-135

Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia

1 Children's Department B, Bechir Hamza Children's Hospital of Tunis; Children's Department, Faculty of Medicine of Tunis, University El Manar, Tunis, Tunisia
2 Genetic Department, Henri Mondor Hospital, Creteil; Creteil Paris-East University, INSERM, IMRB, F-94010, France

Correspondence Address:
Dr. Samia Hamouda
Children's Department B, Bechir Hamza Children's Hospital of Tunis, Tunis, Tunisia, Children's Department, Faculty of Medicine of Tunis, University El Manar, Tunis
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/atm.atm_445_21

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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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