Primary alveolar hypoventilation and XXXXY chromosopathy

The association of primary alveolar hypoventilation (PAH) and chromosomic diseases has not been described previously. A 19 year-old man with Fraccaro’s syndrome (XXXXY karyotype) was admitted to evaluate chronic hypercapnic respiratory failure, pulmonary arterial hypertension and cor pulmonale. PAH was diagnosed. As effective treatment, such as non-invasive positive pressure ventilation (NIPPV), is available for this disorder we should intensify the search for PAH in patients with chromosome disease.