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Year : 2020  |  Volume : 63  |  Issue : 4  |  Page : 672-674
An unusual cause of respiratory distress in an infant

1 Department of Pathology, Seth G. S. Medical College, Mumbai, Maharashtra, India
2 Department of Pathology, Vallabhbhai Patel Chest Institute, University of Delhi, India

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Date of Submission27-Jul-2019
Date of Decision03-Feb-2020
Date of Acceptance10-Feb-2020
Date of Web Publication28-Oct-2020

How to cite this article:
Sathe PA, Vaideeswar P, Kulshrestha R. An unusual cause of respiratory distress in an infant. Indian J Pathol Microbiol 2020;63:672-4

How to cite this URL:
Sathe PA, Vaideeswar P, Kulshrestha R. An unusual cause of respiratory distress in an infant. Indian J Pathol Microbiol [serial online] 2020 [cited 2020 Nov 24];63:672-4. Available from: https://www.ijpmonline.org/text.asp?2020/63/4/672/299316

Dear Editor,

Respiratory distress in infants results from many medical and surgical causes, one of the rare causes being Pulmonary alveolar lipoproteinosis (PALP).[1] PALP is characterized by the accumulation of lipo-proteinaceous material within alveoli and is rare in children.[2],[3] We present a case of an infant, with PALP possibly secondary to surfactant protein C gene mutation, misdiagnosed as pneumonia.

A 3-month-old female child was delivered preterm by lower segment Cesarean section due to fetal distress. She developed fever and nonproductive cough of 7 days duration with refusal to feeds since a day. She was found to be tachypneic. Respiratory system examination revealed bilateral coarse crepitations. Chest radiograph showed bilateral fluffy shadows. There was no contributory family history. She was administered nasal oxygen and intravenous antibiotics. Her hematologic investigations showed hemoglobin ranging from 5 g/dl to 8.9 g/dl and total leucocyte count ranging from 8400/cmm to 27500/cmm. Her serum levels of lactate dehydrogenase and C-reactive protein were 4502 IU/L (normal range: 80– 300 IU/L) and 33.9 mg/L (normal range: 0–6 mg/L), respectively. During the 7 days of hospital stay, she developed increasing respiratory distress, bronchospasm, acidosis and had sudden collapse terminally. A complete autopsy was requested.

At autopsy, the lungs were firm [Figure 1]a. The alveolar spaces were filled with lumpy eosinophilic periodic acid-Schiff (PAS) positive and diastase-resistant material, with cholesterol clefts and foamy macrophages [Figure 1]b, [Figure 1]c, [Figure 1]d and [Figure 1]g. The alveolar septa showed mononuclear cell infiltrate, few hyaline membranes, and focal cuboidal metaplasia [Figure 1]b, [Figure 1]c, [Figure 1]d. No viral inclusions were seen on light microscopy as well as limited immunohistochemistry. Special stains (Gomori methenamine silver and PAS) did not reveal any organisms. Immunohistochemistry for surfactant protein C revealed a deficiency of the protein in the alveolar spaces [Figure 1]e, f and h].
Figure 1: (a) Cut surface of the lungs—gray-white foci. (b) Irregularly expanded alveoli filled with eosinophilic material (H and E, ×40). (c) Interstitial lymphocytic inflammation with ulcerated bronchial mucosa (H and E, ×400). (d) Foamy histiocytes, cholesterol clefts, and inflammation (H and E, ×400), Immunohistochemistry for surfactant protein C (×400). (e) The alveolar lining and (f) bronchiole did not show staining indicating absence of surfactant protein C. (g) Cholesterol clefts (thick arrow) and foamy macrophages (thin arrow) (H and E, × 600). (h) Positive control–surfactant protein C (×400)

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Three clinical forms of PALP are recognized, all are known to occur in children. The presentation can be variable depending on the etiology, from milder forms presenting in late childhood to severe forms leading to an early death. The congenital form occurs due to mutations in surfactant protein (SP) genes or granulocyte/monocyte colony stimulating factor (GM-CSF) receptor defects.[3] While some surfactant protein gene mutations present with severe disease, surfactant protein C gene mutations usually present in late childhood with milder disease.[4] It is this form which may go unrecognized as it presents with respiratory distress, a symptom of many respiratory conditions. The children present with chronic disease and the pulmonary histopathology can show a wide range of findings like interstitial pneumonitis, infantile desquamative interstitial pneumonia, chronic pneumonitis of infancy (CPI, most common), and nonspecific interstitial pneumonitis.[5] Bronchoalveolar lavage is the key investigation which needs to be performed in suspected cases. Unfortunately, BAL was not performed in our case.

As immunohistochemistically surfactant protein C (SP-C) was found to be deficient in the alveolar lining, there was a possibility of surfactant protein C gene mutation. Genetic testing would have been confirmatory, which could not be done in our case due to unavailability.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Griese M. Pulmonary alveolar proteinosis: A comprehensive clinical perspective. Pediatrics 2017;140:e20170610.  Back to cited text no. 1
Tabatabaei SA, Karimi A, Tabatabaei SR, Radpay B, Jadali F, Shiva F, et al. Pulmonary alveolar proteinosis in children: A case series. J Res Med Sci 2010;15:120-4.  Back to cited text no. 2
Hadda V, Tiwari P, Madan K, Mohan A, Gupta N, Jee Bharti S, et al. Pulmonary alveolar proteinosis: Experience from a tertiary care center and systematic review of Indian literature. Lung India 2016;33:626-34.  Back to cited text no. 3
[PUBMED]  [Full text]  
Iyengar JN, R Reddy BK. Pulmonary alveolar proteinosis in children. An unusual presentation with significant clinical impact. Indian J Pathol Microbiol 2018;61:418-20.  Back to cited text no. 4
[PUBMED]  [Full text]  
Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 2009;12:253-74.  Back to cited text no. 5

Correspondence Address:
Pragati A Sathe
Department of Pathology, Seth G. S. Medical College, Mumbai - 400 012, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_588_19

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