AJP Rep 2015; 05(02): e136-e140
DOI: 10.1055/s-0035-1551674
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia

Maresa E. C. Jiskoot-Ermers
1   Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
,
Tim A. J. Antonius
1   Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
,
Monika G. Looijen-Salamon
2   Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands
,
Marc H. W. A. Wijnen
3   Department of Pediatric Surgery, Radboud University Medical Centre, Nijmegen, The Netherlands
,
Bettina F. Loza
4   Department of Pediatrics, VieCuri Medical Centre, Venlo, The Netherlands
,
Arno F. J. van Heijst
1   Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
› Author Affiliations
Further Information

Publication History

09 July 2014

19 March 2015

Publication Date:
03 June 2015 (online)

Abstract

Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. The boy was treated with glucocorticoids and, after a few days, was weaned from ECMO. A few hours later, the patient died due to acute severe pulmonary hypertension with acute right ventricular failure. The etiology and underlying pathogenic mechanisms of PIG are unknown. The clinical outcomes are quite varied. Deaths have been reported when PIG exists with abnormal lung development and pulmonary vascular growth and congenital heart disease. No mortality has been reported in PIG together with BPD in full-term infants. In this article, we reported on a full-term infant with interstitial changes resembling PIG and BPD who expired despite no convincing evidence of an anatomical maturational arrest or congenital heart disease.

Note

It is also possible that our patient had an undiagnosed genetic or pulmonary abnormality.


 
  • References

  • 1 Deutsch GH, Young LR, Deterding RR , et al; Pathology Cooperative Group; ChILD Research Co-operative. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007; 176 (11) 1120-1128
  • 2 Das S, Langston C, Fan LL. Interstitial lung disease in children. Curr Opin Pediatr 2011; 23 (3) 325-331
  • 3 Dishop MK. Paediatric interstitial lung disease: classification and definitions. Paediatr Respir Rev 2011; 12 (4) 230-237
  • 4 Popler J, Lesnick B, Dishop MK, Deterding RR. New coding in the International Classification of Diseases, Ninth Revision, for children's interstitial lung disease. Chest 2012; 142 (3) 774-780
  • 5 Cazzato S, di Palmo E, Ragazzo V, Ghione S. Interstitial lung disease in children. Early Hum Dev 2013; 89 (Suppl. 03) S39-S43
  • 6 Lee EY. Interstitial lung disease in infants: new classification system, imaging technique, clinical presentation and imaging findings. Pediatr Radiol 2013; 43 (1) 3-13 , quiz 128–129
  • 7 Travis WD, Colby TV, Koss MN, Rosado-de-Christenson ML, Müller NL, King TE. Non-Neoplastic Disorders of the Lower Respiratory Tract. Atlas of Nontumor Pathology. Vol 2. Washington DC: The American Registry of Pathology; 2002
  • 8 Canakis AM, Cutz E, Manson D, O'Brodovich H. Pulmonary interstitial glycogenosis: a new variant of neonatal interstitial lung disease. Am J Respir Crit Care Med 2002; 165 (11) 1557-1565
  • 9 Smets K, Dhaene K, Schelstraete P, Meersschaut V, Vanhaesebrouck P. Neonatal pulmonary interstitial glycogen accumulation disorder. Eur J Pediatr 2004; 163 (7) 408-409
  • 10 Onland W, Molenaar JJ, Leguit RJ , et al. Pulmonary interstitial glycogenosis in identical twins. Pediatr Pulmonol 2005; 40 (4) 362-366
  • 11 Radman MR, Goldhoff P, Jones KD , et al. Pulmonary interstitial glycogenosis: an unrecognized etiology of persistent pulmonary hypertension of the newborn in congenital heart disease?. Pediatr Cardiol 2013; 34 (5) 1254-1257
  • 12 Citti A, Peca D, Petrini S , et al. Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review. Ultrastruct Pathol 2013; 37 (5) 356-365
  • 13 King BA, Boyd JT, Kingma PS. Pulmonary maturational arrest and death in a patient with pulmonary interstitial glycogenosis. Pediatr Pulmonol 2011; 46 (11) 1142-1145
  • 14 Castillo M, Vade A, Lim-Dunham JE, Masuda E, Massarani-Wafai R. Pulmonary interstitial glycogenosis in the setting of lung growth abnormality: radiographic and pathologic correlation. Pediatr Radiol 2010; 40 (9) 1562-1565
  • 15 Ross MK, Ellis LS, Bird LM, Hagood JS. Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. Pediatr Pulmonol 2014; 49 (5) 508-511
  • 16 Deutsch GH, Young LR. Pulmonary interstitial glycogenosis: words of caution. Pediatr Radiol 2010; 40 (9) 1471-1475
  • 17 Smets K, Van Daele S. Neonatal pulmonary interstitial glycogenosis in a patient with Hunter syndrome. Eur J Pediatr 2011; 170 (8) 1083-1084
  • 18 Alkhorayyef A, Ryerson L, Chan A, Phillipos E, Lacson A, Adatia I. Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy. Pediatr Cardiol 2013; 34 (2) 462-466
  • 19 Ehsan Z, Montgomery GS, Tiller C, Kisling J, Chang DV, Tepper RS. An infant with pulmonary interstitial glycogenosis: clinical improvement is associated with improvement in the pulmonary diffusion capacity. Pediatr Pulmonol 2014; 49 (3) E17-E20
  • 20 Lanfranchi M, Allbery SM, Wheelock L, Perry D. Pulmonary interstitial glycogenosis. Pediatr Radiol 2010; 40 (3) 361-365