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Case Reports
. 2023 Apr 28;11(2):67.
doi: 10.3390/diseases11020067.

Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report

Ali Alsuheel Asseri  1 , Ahmad Alzoani  2 , Abdulwahab M Almazkary  3 , Nisreen Abdulaziz  2 , Mufareh H Almazkary  2 , Samy Ailan Alahmari  2 , Arul J Duraisamy  4 , Shruti Sureshkumar  4
Affiliations
Case Reports

Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report

Ali Alsuheel Asseri et al. Diseases. .

Abstract

Mucopolysaccharidosis type I (MPS I) is a rare inherited autosomal recessive lysosomal storage disorder. Despite several reports on MPS I-related neonatal interstitial lung disease, it is still considered to be an under-recognized disease manifestation. Thus, further study of MPS I is required to improve specific therapies and management strategies. The current report describes a late preterm baby (36 weeks gestational age) with neonatal onset of interstitial lung disease eventually diagnosed as MPS I. The neonate required prolonged respiratory support and oxygen supplementation that further escalated the likely diagnosis of inherited disorders of pulmonary surfactant dysfunction. Whole-exome sequencing confirmed the diagnosis of MPS I, following the observation of low levels of the enzyme α-L-iduronidase. The results highlight the necessity of considering MPS I-related pulmonary involvement in newborns with persistent respiratory insufficiency.

Keywords: MPS I; neonatal respiratory distress; pulmonary surfactant dysfunction; α-L-iduronidase.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Chest radiography (CXR) (2 h after birth) revealed diffuse bilateral lung ground-glass opacities with air bronchograms (arrows); L = left.
Figure 2
Figure 2
Chest-contrasted computed tomography (CT) findings of the patient: (A) Coronal CT chest image showed aeration of the large airways, with ground-glass material filling the distal airspaces and interlobular septal thickening (arrows). (B,C) Axial CT chest images showed extensive ground-glass opacification/consolidation of both lungs (arrows).
Figure 3
Figure 3
Chest radiography (CXR) (at 2 months) and the patient’s facial features at the age of 2 months: (A) CXR (at 2 months) revealed a persistent bilateral ground-glass appearance (arrows). (B) The patient at the age of 2 months showed mild dysmorphic facial features, including mild coarse facial features, a short and flat nose with wide nostrils, broad eyebrows with mild synophrys, and facial hypertrichosis. L, left.
Figure 4
Figure 4
Timeline from the first presentation to the age of 15 months (12 months after the initiation of enzyme replacement therapy).
See this image and copyright information in PMC

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