Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report
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 im...
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MDPI AG
2023-04-01
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| Series: | Diseases |
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| Online Access: | https://www.mdpi.com/2079-9721/11/2/67 |
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| author | Ali Alsuheel Asseri Ahmad Alzoani Abdulwahab M. Almazkary Nisreen Abdulaziz Mufareh H. Almazkary Samy Ailan Alahmari Arul J. Duraisamy Shruti Sureshkumar |
| author_facet | Ali Alsuheel Asseri Ahmad Alzoani Abdulwahab M. Almazkary Nisreen Abdulaziz Mufareh H. Almazkary Samy Ailan Alahmari Arul J. Duraisamy Shruti Sureshkumar |
| author_sort | Ali Alsuheel Asseri |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T02:35:19Z |
| format | Article |
| id | doaj.art-e802cf3140bc437fbcd8b482146fbd17 |
| institution | Directory Open Access Journal |
| issn | 2079-9721 |
| language | English |
| last_indexed | 2024-03-11T02:35:19Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diseases |
| spelling | doaj.art-e802cf3140bc437fbcd8b482146fbd172023-11-18T10:01:55ZengMDPI AGDiseases2079-97212023-04-011126710.3390/diseases11020067Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case ReportAli Alsuheel Asseri0Ahmad Alzoani1Abdulwahab M. Almazkary2Nisreen Abdulaziz3Mufareh H. Almazkary4Samy Ailan Alahmari5Arul J. Duraisamy6Shruti Sureshkumar7Department of Child Health, King Khalid University, Abha 62529, Saudi ArabiaDepartment of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi ArabiaCollege of Medicine, King Khalid University, Abha 62529, Saudi ArabiaDepartment of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi ArabiaDepartment of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi ArabiaDepartment of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha 62521, Saudi ArabiaPerkinElmer Health Sciences Pvt Ltd., Tharamani 600113, IndiaPerkinElmer Health Sciences Pvt Ltd., Tharamani 600113, IndiaMucopolysaccharidosis 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.https://www.mdpi.com/2079-9721/11/2/67MPS Ineonatal respiratory distresspulmonary surfactant dysfunctionα-L-iduronidase |
| spellingShingle | Ali Alsuheel Asseri Ahmad Alzoani Abdulwahab M. Almazkary Nisreen Abdulaziz Mufareh H. Almazkary Samy Ailan Alahmari Arul J. Duraisamy Shruti Sureshkumar Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report Diseases MPS I neonatal respiratory distress pulmonary surfactant dysfunction α-L-iduronidase |
| title | Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report |
| title_full | Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report |
| title_fullStr | Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report |
| title_full_unstemmed | Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report |
| title_short | Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report |
| title_sort | mucopolysaccharidosis type i presenting with persistent neonatal respiratory distress a case report |
| topic | MPS I neonatal respiratory distress pulmonary surfactant dysfunction α-L-iduronidase |
| url | https://www.mdpi.com/2079-9721/11/2/67 |
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