Skip to main content
SpringerLink
Log in

Pulmonary Interstitial Glycogenosis Associated With Pulmonary Hypertension and Hypertrophic Cardiomyopathy

  • Case Report
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors’ knowledge, the association of pulmonary interstitial glycogenosis and hypertrophic cardiomyopathy has not been reported previously. The authors have broadened the phenotype of pulmonary interstitial glycogenosis and demonstrate the diagnostic value of lung biopsy in cases of unexplained neonatal pulmonary hypertension.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS (2006) Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 8:297–301. doi:10.1097/01.gim.0000195896.04069.5f

    Article  PubMed  CAS  Google Scholar 

  2. Breitweser JA, Meyer RA, Sperling MA, Tsang RC, Kaplan S (1980) Cardiac septal hypertrophy in hyperinsulinemic infants. J Pediatr 96(3 Pt 2):535–539

    PubMed  CAS  Google Scholar 

  3. Canakis AM, Cutz E, Manson D, O’Brodovich H (2002) Pulmonary interstitial glycogenosis: a new variant of neonatal interstitial lung disease. Am J Respir Crit Care Med 165:1557–1565

    Article  PubMed  Google Scholar 

  4. Castillo M, Vade A, Lim-Dunham JE, Masuda E, Massarani-Wafai R (2010) Pulmonary interstitial glycogenosis in the setting of lung growth abnormality: radiographic and pathologic correlation. Pediatr Radiol 40:1562–1565. doi:10.1007/s00247-010-1670-2

    Article  PubMed  Google Scholar 

  5. Deutsch GH, Young LR (2009) Histologic resolution of pulmonary interstitial glycogenosis. Pediatr Dev Pathol 12:475–480. doi:10.2350/08-12-0575.1

    Article  PubMed  Google Scholar 

  6. Deutsch GH, Young LR (2010) Pulmonary interstitial glycogenosis: words of caution. Pediatr Radiol 40:1471–1475. doi:10.1007/s00247-010-1730-7

    Article  PubMed  Google Scholar 

  7. Deutsch GH, Young LR, Deterding RR, Fan LL, Dell SD, Bean JA, Brody AS, Nogee LM, Trapnell BC, Langston C, Albright EA, Askin FB, Baker P, Chou PM, Cool CM, Coventry SC, Cutz E, Davis MM, Dishop MK, Galambos C, Patterson K, Travis WD, Wert SE, White FV (2007) Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 176:1120–1128. doi:10.1164/rccm.200703-393OC

    Article  PubMed  Google Scholar 

  8. Dinwiddie R, Sharief N, Crawford O (2002) Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. Pediatr Pulmonol 34:23–29. doi:10.1002/ppul.10125

    Article  PubMed  CAS  Google Scholar 

  9. Dworzak F, Casazza F, Mora M, De Maria R, Gronda E, Baroldi G, Rimoldi M, Morandi L, Cornelio F (1994) Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. Neuromuscul Disord 4:243–247

    Article  PubMed  CAS  Google Scholar 

  10. Faienza MF, Giordani L, Ferraris M, Bona G, Cavallo L (2009) PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? Pediatr Cardiol 30:1012–1015. doi:10.1007/s00246-009-9473-7

    Article  PubMed  Google Scholar 

  11. Fan LL, Kozinetz CA (1997) Factors influencing survival in children with chronic interstitial lung disease. Am J Respir Crit Care Med 156(3 Pt 1):939–942

    PubMed  CAS  Google Scholar 

  12. Israel BA, Sherman FS, Guthrie RD (1993) Hypertrophic cardiomyopathy associated with dexamethasone therapy for chronic lung disease in preterm infants. Am J Perinatol 10:307–310. doi:10.1055/s-2007-994747

    Article  PubMed  CAS  Google Scholar 

  13. Lanfranchi M, Allbery SM, Wheelock L, Perry D (2010) Pulmonary interstitial glycogenosis. Pediatr Radiol 40:361–365. doi:10.1007/s00247-009-1455-7

    Article  PubMed  Google Scholar 

  14. Nishikawa T, Ishiyama S, Shimojo T, Takeda K, Kasajima T, Momma K (1996) Hypertrophic cardiomyopathy in Noonan syndrome. Acta Paediatr Jpn 38:91–98

    Article  PubMed  CAS  Google Scholar 

  15. Onland W, Molenaar JJ, Leguit RJ, van Nierop JC, Noorduyn LA, van Rijn RR, Geukers VG (2005) Pulmonary interstitial glycogenosis in identical twins. Pediatr Pulmonol 40:362–366. doi:10.1002/ppul.20255

    Article  PubMed  CAS  Google Scholar 

  16. Schroeder SA, Shannon DC, Mark EJ (1992) Cellular interstitial pneumonitis in infants: a clinicopathologic study. Chest 101:1065–1069

    Article  PubMed  CAS  Google Scholar 

  17. Sengers RC, Stadhouders AM, van Lakwijk-Vondrovicova E, Kubat K, Ruitenbeek W (1985) Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract. Br Heart J 54:543–547

    Article  PubMed  CAS  Google Scholar 

  18. Smets K, Van Daele S (2011) Neonatal pulmonary interstitial glycogenosis in a patient with Hunter syndrome. Eur J Pediatr 170:1083–1084. doi:10.1007/s00431-011-1444-3

    Article  PubMed  Google Scholar 

  19. Smets K, Dhaene K, Schelstraete P, Meersschaut V, Vanhaesebrouck P (2004) Neonatal pulmonary interstitial glycogen accumulation disorder. Eur J Pediatr 163:408–409. doi:10.1007/s00431-004-1450-9

    Article  PubMed  Google Scholar 

  20. Tomita H, Fuse S, Ikeda K, Matsuda K, Chiba S (1998) An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy. Acta Paediatr Jpn 40:608–611

    Article  PubMed  CAS  Google Scholar 

  21. Vaillant MC, Chantepie A, Casasoprana A, Chamboux C, Suc AL, Gold F, Laugier J (1997) Transient hypertrophic cardiomyopathy in neonates after acute fetal distress. Pediatr Cardiol 18:52–56

    Article  PubMed  CAS  Google Scholar 

  22. van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372:1342–1353. doi:10.1016/S0140-6736(08)61555-X

    Article  PubMed  Google Scholar 

  23. Wadhawan R, Khanna P, Nora F, Gilbert-Barness E (2008) Clinicopathologic conference: persistent tachypnea in a 5-week-old boy. Fetal Pediatr Pathol 27:185–196. doi:10.1080/15513810802319343

    Article  PubMed  Google Scholar 

  24. Werner JC, Sicard RE, Hansen TW, Solomon E, Cowett RM, Oh W (1992) Hypertrophic cardiomyopathy associated with dexamethasone therapy for bronchopulmonary dysplasia. J Pediatr 120(2 Pt 1):286–291

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada

    Abdullah Alkhorayyef, Lindsay Ryerson, Ernest Phillipos & Ian Adatia

  2. Department of Medical Genetics, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada

    Alicia Chan

  3. Department of Pathology, Stollery Children’s Hospital, University of Alberta, Edmonton, Canada

    Atilano Lacson

  4. 4C1.19 Walter C Mackenzie Health Sciences Center, 8440 112 St., Edmonton, AB, T6G 2B7, Canada

    Ian Adatia

Authors
  1. Abdullah Alkhorayyef
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Lindsay Ryerson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Alicia Chan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ernest Phillipos
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Atilano Lacson
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ian Adatia
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ian Adatia.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Alkhorayyef, A., Ryerson, L., Chan, A. et al. Pulmonary Interstitial Glycogenosis Associated With Pulmonary Hypertension and Hypertrophic Cardiomyopathy. Pediatr Cardiol 34, 462–466 (2013). https://doi.org/10.1007/s00246-012-0311-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-012-0311-y

Keywords

Search

Navigation