Primary Alveolar Hypoventilation syndrome in a 10-year old girl

Abstract

A 10-year old girl presented with deep cyanosis, right cardiac failure and generalised seizures. The medical history was unremarkable except for neonatal meconium aspiration and a generalised seizure at the age of 4. After treatment of the acute phase, the diagnosis of primary alveolar hypoventilation was established by the following findings: 1. Persistent hypoxia (SaO2 40-100%) and hypercapnia (pCO2 60 - 100 mm Hg), especially during quiet sleep, with prolonged episodes of apnea; 2. impaired ventilatory CO2-response; 3. normal pulmonary function without airway obstruction; 4. no signs of myopathy with normal EMG and diaphragmatic EMG; 5. improvement of ventilation during infusion of almitrine (a chemoreceptor agonist). There were no abnormalities on 24-hours EEG registration. Additional findings were right ventricular hypertrophy with pulmonary hypertension and mental retardation with cerebral atrophy on CT scan. Both were probably the consequence of prolonged hypoxia. Maintenance therapy included doxapram, almitrine and caffeine together with oxygen during sleep. Because this medication was ineffective in preventing nocturnal apnea, mechanical ventilatory assistence was instituted during sleep by means of an external cuirasse ventilator. At present the patient has been treated for 18 months with caffeine and cuirasse ventilation at night. No complications were seen; the therapy proved effective in preventing nocturnal hypoxia and resulted in a marked improvement in mental status, a normal growth and pubertal development and normalisation of cardiac dimensions.