Title: Congenital Alveolar Proteinosis, A Straight Forward Diagnosis But Often Missed: A Case Report
Authors: Showkat Hussain Tali (MD, DNB), Nandkishore Shrikishanji Kabra (MD, DM) , Shagufta Yousuf (MD, PGDMCH) , Javed Ahmed(MD), Phalgoni Padhi (MD, DNB), Rashid Merchant (MD), Swarup Kumar Dash (MD, DNB)
DOI: https://dx.doi.org/10.18535/jmscr/v5i6.185
Abstract
We report an infant who presented with respiratory distress soon after birth. After exhaustive workup including histopathalogy and electronmicroscopy of the excision biopsy specimen of the lung, infant was finally diagnosed to have congenital alveolar proteinosis.
Keywords: Neonate, Congenital, Alveolar proteinoses, Respiratory distress.
1. Rosen SH, Castleman B, Liebow AA. Pulmonary alveolar proteinosis. N Engl J Med 1958; 258: 1123-43.
2. Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med 2003; 349(26):2527-39.
3. [Guideline] Leth S, Bendstrup E, Vestergaard H and Hilberg O. Autoimmune pulmonary alveolar proteinosis: treatment options in year 2013. Respirology 2013; 18:82-91.
4. Wasserman K, Mason GR. Pulmonary alve-olar proteinosis. In: Murray JF, Nadel JA, editors. Textbook of Respiratory Medicine, 5th ed. Philadelphia: Saunders 1994;1933-46
5. Teja K, Cooper PH, Squires JE, Schatterly PT. Pulmonary alveolar proteinosis in four siblings. N Engl J Med 1981; 305: 1390-92.
6. Patel SM, Sekuguchi H, Reynold J and Krowks M. Pulmonary alveolar proteinosis. Canadian Respiratory Journal 2012; 19:243-45.
7. Raj D, Bhutia TD, Mathur S, Kabra SK, Lodha R. Pulmonary alveolar proteinosis secondary to Pneumocystis jiroveci infection in an infant with common variable immunodeficiency. Indian J Pediatr. 2014;81:929–31
8. Hammami S, Harrathi K, Lajmi K, Hadded S, Ben Meriem C, Guédiche MN. Congenital pulmonary alveolar proteinosis. Case Rep Pediatr 2013:764216. doi: 10.1155/2013/764216
9. Samuels MP, Warner JO. Pulmonary alveolar lipoproteinosis complicating juvenile dermatomyositis. Thorax. Nov 1988; 43(11):939-40.
10. deMello DE, Nogee LM, Heyman S, et al. Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. J Pediatr 1994; 125(1):43-50.
11. Blaivas AJ. Pulmonary alveolar proteinosis. MedlinePlus. May 21, 2009;
12. Kniffin, CL. Surfactant metabolism dysfunc-tion, pulmonary 1. OMIM. April 24, 2007;
13. Parto K, Kallojoki M, Aho H, Simell O. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance, case report and autopsy finding of four paediatric patients. Hum Path 1994; 25: 400-7.
14. deBlic J. Pulmonary alveolar proteinosis in children. Pediatr Resp Rev 2004; 5; 316-22.
15. Ramirez RJ, Campbell GD. Pulmonary alveolar proteinosis: endobronchial treat-ment. Ann Intern Med 1965; 63: 429-41.
16. Shah PL, Hansell D, Lawson PR. Pulmonary alveolar proteinosis: clinical aspects and current concepts on pathogenesis. Thorax 2000; 55: 67-77.
17. Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med 2003; 349: 2527-39.
