Enaud et al. Orphanet Journal of Rare Diseases 2014, 9:85

Full list of author information is available at the end of the articlePulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by the alveolar accumulation of lipopro-teinaceous material [1]. Diagnosis is suggested on com-puted tomography (CT) scans, showing a typical “crazy paving ” appearance and alveolar consolidations [2]. It is confirmed by periodic acid-Schiff (PAS) staining of nations of lung biopsy specimens [3]. Most of the reported cases occur in adults and are related to the presence of anti-granulocyte macrophage colony stimulating factor (GM-CSF) autoantibodies [4-6]. PAP is very rare in children, with only a few small series and case reports published to date. It may be primary or secondary to various diseases, including immune deficiencies, meta-bolic disorders and infections [7]. The mechanisms underlying primary PAP in children remain unknown, except for 15 published cases, for which mutations were found in the genes encoding the alpha and bet