Table 2.

Rare respiratory conditions affecting the newborn

Diagnosis	Diagnostic features	Notes
Pulmonary complications of disease
Pulmonary haemorrhage	Clinical observation of blood from endotracheal tube	Usually occurs in ventilated very low birth weight infants, or complicating meconium aspiration syndrome. Risk of pulmonary haemosiderosis following severe or recurrent episodes.
Pleural effusion (chylothorax)	Characteristic chest radiograph appearance	Usually consequence of hydrops fetalis or chromosomal anomaly. Also iatrogenic, following surgical procedure or leak of parenteral nutrition from central venous catheter. Mortality from underlying cause.
Primary lung disease
Surfactant protein deficiency syndromes	Persistent and severe RDS presentation in a term infant	Mutations in surfactant proteins or lamellar body associated transport protein result in lethal respiratory distress due to deficiency in surfactant activity.
Alveolar capillary dysplasia	Features of severe PPHN, resistant to treatment	Diagnosis made at post mortem, with evidence of developmental failure of alveoli and reduced capillary density. Approaching 100% mortality.
Pulmonary Hypoplasia	Respiratory failure from birth. Small volume lungs on chest radiograph	Primary pulmonary hypoplasia rare, more commonly secondary to severe oligohydramnios, exomphalos or space occupying lesion in the chest (CDH or CPAM) Diagnosis confirmed at post mortem.
Congenital malformations
Pulmonary sequestration	Large lesions detected antenatally. May present with hydrops fetalis. Older child presents with chronic cough or recurrent pneumonia.	Portion of lung not connected to bronchial tree. Can be associated with CDH or cardiac anomaly. Surgical excision recommended for symptomatic lesions, intervention for asymptomatic lesions is controversial.
Lobar emphysema	Large bullous cystic area on chest radiograph	Hyperinflation of one or more lobes compressing surrounding structures. Lobectomy required for symptomatic cases.
Choanal atresia	Inability to pass nasogastric tube. Apnoea and cyanosis when not crying (bilateral choanal atresia)	50% of cases part of CHARGE syndrome. Bilateral atresia cases require urgent surgery to create airway.