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Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

  • Douglas Bush
  • Leighann Sremba
  • Kate Lomax
  • Jill Lipsett
  • David Ketteridge
  • Drago Bratkovic
  • Yazmin Enchautegui-Colon
  • James Weisfeld-Adams
  • Csaba Galambos
  • Seth Lummus
  • Eric Wartchow
  • Jason Weinman
  • Deborah R. Liptzin
  • Peter BakerII
Research Report
Part of the JIMD Reports book series

Abstract

We describe two cases of neonatal onset interstitial lung disease eventually diagnosed as mucopolysaccharidosis type I (MPS I). In both cases, evaluation led to lung biopsy, pathology review, and identification of glycogen deposition. Pulmonary interstitial glycogenosis (PIG) was considered as a clinical diagnosis in case one; however, further review of electron microscopy (EM) was more consistent with MPS I rather than PIG. Both cases were confirmed to have MPS I by enzyme and molecular analysis. Neonatal interstitial lung disease is an atypical presentation for MPS I which is likely under-recognized. Diagnosis through clinical guidelines and a multidisciplinary approach had a major impact on patient management. The diagnosis of MPS I prompted timely initiation of enzyme replacement therapy (ERT) and the patients ultimately underwent hematopoietic stem cell transplantation (HSCT) to improve symptomatic outcomes. In addition to treatment, immediate precautionary recommendations were made to avoid potentially catastrophic outcomes associated with cervical instability. These cases add to the clinical spectrum of MPS I in the newborn period. They further illustrate the difficulties in early recognition of the disease, and importance of a definitive diagnosis of MPS I in infants with interstitial lung disease.

Keywords

Childhood interstitial and diffuse lung disease Hurler syndrome MPS I Mucopolysaccharidosis Pulmonary interstitial glycogenosis 

Abbreviations

chILD

Childhood interstitial and diffuse lung disease

EM

Electron microscopy

ERT

Enzyme replacement therapy

GAG

Glycosaminoglycan

HSCT

Hematopoietic stem cell transplantation

IDUA

Iduronidase activity

MPS

Mucopolysaccharidosis

PIG

Pulmonary interstitial glycogenosis

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Douglas Bush
    • 1
  • Leighann Sremba
    • 2
  • Kate Lomax
    • 3
  • Jill Lipsett
    • 4
  • David Ketteridge
    • 3
    • 4
  • Drago Bratkovic
    • 3
    • 4
  • Yazmin Enchautegui-Colon
    • 2
  • James Weisfeld-Adams
    • 2
  • Csaba Galambos
    • 5
  • Seth Lummus
    • 5
  • Eric Wartchow
    • 6
  • Jason Weinman
    • 7
  • Deborah R. Liptzin
    • 1
  • Peter BakerII
    • 2
  1. 1.Section of Pulmonary Medicine, Department of PediatricsUniversity of Colorado School of MedicineAuroraUSA
  2. 2.Section of Clinical Genetics and Metabolism, Department of PediatricsUniversity of Colorado School of MedicineAuroraUSA
  3. 3.Women’s and Children’s HospitalAdelaideAustralia
  4. 4.SA Pathology, Women’s and Children’s HospitalAdelaideAustralia
  5. 5.Department of Pathology and Laboratory MedicineUniversity of Colorado School of MedicineAuroraUSA
  6. 6.Department of Pathology and Laboratory MedicineChildren’s Hospital ColoradoAuroraUSA
  7. 7.Department of RadiologyUniversity of Colorado School of MedicineAuroraUSA

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