Advertisement

Pediatric Radiology

, Volume 48, Issue 8, pp 1066–1072 | Cite as

High-resolution CT findings of pulmonary interstitial glycogenosis

  • Jason P. Weinman
  • Christina J. White
  • Deborah R. Liptzin
  • Robin R. Deterding
  • Csaba Galambos
  • Lorna P. Browne
Original Article

Abstract

Background

Pulmonary interstitial glycogenosis is a form of childhood interstitial lung disease characterized by the histological finding of abundant glycogen-laden mesenchymal cells within the pulmonary interstitium. Patients present in the neonatal period with disproportionate respiratory distress. Often, pulmonary interstitial glycogenosis is accompanied by alveolar simplification complicating recognition and diagnosis. Despite the recognition of pulmonary interstitial glycogenosis as a distinct entity, only a few case reports describing imaging findings are found in the literature, with no published systematic review available.

Objective

The purpose of this review is to provide a review of CT findings of pulmonary interstitial glycogenosis with histological correlation to aid in early diagnosis and management.

Materials and methods

A 10-year retrospective review was performed to identify pediatric patients <18 years who underwent biopsy and CT within the last 10 years at our institution. The inclusion criteria include patients who had a CT within 3 months of biopsy and pathology-proven pulmonary interstitial glycogenosis CTs that were evaluated by three radiologists using a standardized scoring system.

Results

Fifteen patients met inclusion criteria (9 male, 6 female). At the time of initial pre-biopsy CT, ages ranged from 2 weeks to 5 months. Pulmonary symptoms presented at birth in the majority of patients (n=13). Two patients presented in early infancy at 3 months (n=1) and 5 months (n=1). Ground glass opacities were the most common CT finding (n=14), which varied from diffuse to scattered. Cystic lucencies (n=11) were noted in the majority of patients as well. Interlobular septal thickening (n=10) and architectural distortion (n=8) were less common findings.

Conclusion

The most common CT findings of pulmonary interstitial glycogenosis are ground glass opacities with cystic lucencies. While the imaging findings are distinct from the typical presentation of neuroendocrine hyperplasia of infancy, there is significant overlap of these findings with surfactant dysfunction mutations, entities that also present with respiratory distress in the neonatal period. Therefore, imaging findings in pulmonary interstitial glycogenosis are helpful in guiding the need for genetic testing and/or biopsy.

Keywords

Chest Children Computed tomography Interstitial lung disease Lungs Pulmonary interstitial glycogenosis 

Notes

Compliance with ethical standards

Conflicts of interest

Dr. R. R. Deterding discloses the following: cofounder and board member of Triple Endoscopy Inc., patent on novel endoscopy scope, and advisory board of Pediatric Interstitial Lung Disease for Boehringer Ingelheim.

References

  1. 1.
    Fan LL, Deterding RR, Langston C (2004) Pediatric interstitial lung disease revisited. Pediatr Pulmonol 38:369–378CrossRefPubMedGoogle Scholar
  2. 2.
    Deutsch GH, Young LR, Deterding RR et al (2007) Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 176:1120–1128CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Dishop MK (2010) Diagnostic pathology of diffuse lung disease in children. Pediatr Allergy Immunol Pulmonol 23:69–85CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Kurland G, Deterding RR, Hagood JS et al (2013) An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 188:376–394CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Canakis A-M, Cutz E, Manson D et al (2002) Pulmonary interstitial glycogenosis. Am J Respir Crit Care Med 165:1557–1565CrossRefPubMedGoogle Scholar
  6. 6.
    Brody AS, Guillerman RP, Hay TC et al (2010) Neuroendocrine cell hyperplasia of infancy: diagnosis with high-resolution CT. AJR Am J Roentgenol 194:238–244CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Lanfranchi M, Allbery SM, Wheelock L et al (2010) Pulmonary interstitial glycogenosis. Pediatr Radiol 40:361–365CrossRefPubMedGoogle Scholar
  8. 8.
    Castillo M, Vade A, Lim-Dunham JE et al (2010) Pulmonary interstitial glycogenosis in the setting of lung growth abnormality: radiographic and pathologic correlation. Pediatr Radiol 40:1562–1565CrossRefPubMedGoogle Scholar
  9. 9.
    Weinman JP, Manning DA, Liptzin DR et al (2017) HRCT findings of childhood follicular bronchiolitis. Pediatr Radiol 47:1759–1765CrossRefPubMedGoogle Scholar
  10. 10.
    Engeler C, Tashjian J, Trenkner S et al (1993) Ground-glass opacity of the lung parenchyma: a guide to analysis with high-resolution CT. Am J Radiol 160:249–251Google Scholar
  11. 11.
    Hansell DM, Bankier AA, MacMahon H et al (2008) Fleischner Society: glossary of terms for thoracic imaging. Radiology 246:697–722Google Scholar
  12. 12.
    Haran Jogeesvaran K, Owens CM (2010) Chronic diseases of lung parenchyma in children: the role of imaging. Pediatr Radiol 40:850–858CrossRefPubMedGoogle Scholar
  13. 13.
    Howling SJ, Northway WH, Hansell DM et al (2000) Pulmonary sequelae of bronchopulmonary dysplasia survivors: high-resolution CT findings. Am J Radiol 174:1323–1326Google Scholar
  14. 14.
    Newman B, Kuhn JP, Kramer SS et al (2001) Congenital surfactant protein B deficiency--emphasis on imaging. Pediatr Radiol 31:327–331CrossRefPubMedGoogle Scholar
  15. 15.
    Hugosson CO, Salama HM, Al-Dayel F et al (2005) Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study. Pediatr Radiol 35:311–316CrossRefPubMedGoogle Scholar
  16. 16.
    Herman TE, Nogee LM, McAlister WH et al (1993) Surfactant protein B deficiency: radiographic manifestations. Pediatr Radiol 23:373–375CrossRefPubMedGoogle Scholar
  17. 17.
    Doan ML, Guillerman RP, Dishop MK et al (2008) Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 63:366–373CrossRefPubMedGoogle Scholar
  18. 18.
    Galambos C, Levy H, Cannon CL et al (2010) Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. Am J Respir Crit Care Med 182:549–554CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Deterding RR, Pye C, Fan LL et al (2005) Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia. Pediatr Pulmonol 40:157–165CrossRefPubMedGoogle Scholar
  20. 20.
    Rauch D, Wetzke M, Reu S et al (2016) Persistent tachypnea of infancy: usual and aberrant. Am J Respir Crit Care Med 193:438–447CrossRefPubMedGoogle Scholar
  21. 21.
    Kerby GS, Wagner BD, Popler J et al (2013) Abnormal infant pulmonary function in young children with neuroendocrine cell hyperplasia of infancy. Pediatr Pulmonol 48:1008–1015CrossRefPubMedGoogle Scholar
  22. 22.
    Deutsch GH, Young LR (2009) Histologic resolution of pulmonary interstitial glycogenosis. Pediatr Dev Pathol 12:475–480CrossRefPubMedGoogle Scholar
  23. 23.
    Young LR, Deutsch GH, Bokulic RE et al (2013) A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. Chest 144:1199–1206CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Avital A, Hevroni A, Godfrey S et al (2014) Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol 49:1097–1105CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Jason P. Weinman
    • 1
  • Christina J. White
    • 2
  • Deborah R. Liptzin
    • 3
  • Robin R. Deterding
    • 3
  • Csaba Galambos
    • 4
  • Lorna P. Browne
    • 1
  1. 1.Department of RadiologyChildren’s Hospital ColoradoAuroraUSA
  2. 2.Diversified RadiologyLakewoodUSA
  3. 3.Department of Pediatrics and the Division of Pediatric Pulmonary MedicineChildren’s Hospital ColoradoAuroraUSA
  4. 4.Department of Pathology and Laboratory MedicineChildren’s Hospital ColoradoAuroraUSA

Personalised recommendations