Pulmonary Alveolar Proteinosis in Association with Congenital Dyserythropoietic Anemia: A Case Report

Abstract

<jats:p>A two-year-old girl with congenital dyserythropoietic anemia (CDA) acutely developed fever, tachypnea, and increased oxygen requirement. Chest X-ray revealed bilateral interstitial infiltrates and mild cardiomegaly. Blood cultures grew no infectious agents, while pulmonary specimens grew cytomegalovirus (CMV). Treatment with intravenous ganciclovir was initiated but without response. Final cytologic preparations of bronchoalveolar lavage (BAL) fluid revealed eosinophilic amorphous material consistent with pulmonary alveolar proteinosis (PAP). CDA and PAP are extremely rare disorders in pediatrics. PAP should be considered in patients with hematological disorders who present with acute interstitial pneumonia, after infectious causes are ruled out.</jats:p>

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

“…A broad spectrum of hematologic disorders have been associated with PAP, most frequently myelodysplastic syndrome (MDS), and more rarely acute (AML) and chronic myeloid leukaemia (CML), myelofibrosis, acute lymphoid leukaemia (ALL), adult T-cell leukaemia, aplastic anemia, lymphoma, multiple myeloma, plasmacytoma, essential thrombocytosis [ 3 ], congenital dyserythropoietic anemia [ 4 ], and status after unrelated stem cell transplant [ 5 , 6 ]. Up to now only mutations in one specific gene -GATA2- have been associated with this form of PAP.…”

Herpes Simplex Virus, Cytomegalovirus, andPneumocystis jiroveciPneumonia in a Treatment-Naive HIV-Positive Patient with Pulmonary Alveolar Proteinosis: Case Report

“…14 Pulmonary alveolar proteinosis can be congenital, idiopathic (also referred to as primary), or secondary when associated with systemic diseases most commonly seen with hematologic malignancies and HIV. 12,15,16 The association of PAP with HIV is well known and has been described in various case reports since the early 1980s. [17][18][19][20][21][22] Decreased macrophage function appears to be a unifying feature of PAP.…”