JIMD Reports, Volume 43

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 Baker, Bush, Douglas, Sremba, Leighann, Lomax, Kate, Lipsett, Jill, Ketteridge, David, Bratkovic, Drago, Enchautegui-Colon, Yazmin, Weisfeld-Adams, James, Galambos, Csaba, Lummus, Seth, Wartchow, Eric, Weinman, Jason, Liptzin, Deborah R., Baker, Peter

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.