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

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.

Interstitial lung disease in infancy and early childhood: a clinicopathological primer

“…While in most cases the diagnosis of a storage disorder will already have been established, in some cases lung involvement may prove to be the first clinical manifestation [70]. The most common storage disorders are Niemann-Pick disease [71], Gaucher's disease [72], glycogen storage disease, and mucopolysaccharidoses and mucolipidoses [73]. Lysosomal and glycogen storage disorders typically manifest within the lung as intra-alveolar and interstitial infiltrates of foamy or vacuolated macrophages.…”

Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I

“…18 Se ha descrito la infiltración instersticial pulmonar en el neonato. 19 La vía aérea difícil debe evaluarse antes de una cirugía, ya que una traqueotomía puede evitar complicaciones en el posoperatorio. 20,21…”

New recommendations for the care of patients with mucopolysaccharidosis type I

“…18 Lung interstitial infiltration in the newborn infant has been described. 19 Difficult airways should be evaluated before surgery, as a tracheostomy can prevent post-operative complications. 20,21…”