Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2024.1510969/full |
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| author | Qianying Li Lidan Cui Jun Su Yuelin Shen Yuelin Shen |
| author_facet | Qianying Li Lidan Cui Jun Su Yuelin Shen Yuelin Shen |
| author_sort | Qianying Li |
| collection | DOAJ |
| description | Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth. A chest CT scan revealed typical signs of ILD. Additionally, the patient exhibited congenital mydriasis, aortic coarctation, PDA, and pulmonary hypertension. Whole-exome sequencing identified a de novo variant c.536G > A (p.Arg179His) in the ACTA2 gene. These findings confirmed the diagnosis of MSMDS. Despite intensive hospital-based pulmonary care and optimized therapy, the child passed away due to sudden cardiac and respiratory arrest on the 12th day of hospitalization. This case underscores the importance of considering MSMDS in the differential diagnosis of infantile ILD. |
| format | Article |
| id | doaj-art-14aaa4649437458e80ff9d517e493217 |
| institution | Kabale University |
| issn | 1663-9812 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj-art-14aaa4649437458e80ff9d517e4932172025-01-10T13:40:06ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-01-011510.3389/fphar.2024.15109691510969Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung diseaseQianying Li0Lidan Cui1Jun Su2Yuelin Shen3Yuelin Shen4Pediatric Intensive Care Unit, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaPediatric Intensive Care Unit, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaPediatric Intensive Care Unit, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaMultisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth. A chest CT scan revealed typical signs of ILD. Additionally, the patient exhibited congenital mydriasis, aortic coarctation, PDA, and pulmonary hypertension. Whole-exome sequencing identified a de novo variant c.536G > A (p.Arg179His) in the ACTA2 gene. These findings confirmed the diagnosis of MSMDS. Despite intensive hospital-based pulmonary care and optimized therapy, the child passed away due to sudden cardiac and respiratory arrest on the 12th day of hospitalization. This case underscores the importance of considering MSMDS in the differential diagnosis of infantile ILD.https://www.frontiersin.org/articles/10.3389/fphar.2024.1510969/fullinterstitial lung diseasemultisystemic smooth muscle dysfunction syndromecongenital mydriasisinfantcase report |
| spellingShingle | Qianying Li Lidan Cui Jun Su Yuelin Shen Yuelin Shen Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease Frontiers in Pharmacology interstitial lung disease multisystemic smooth muscle dysfunction syndrome congenital mydriasis infant case report |
| title | Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease |
| title_full | Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease |
| title_fullStr | Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease |
| title_full_unstemmed | Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease |
| title_short | Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease |
| title_sort | case report multisystemic smooth muscle dysfunction syndrome a rare genetic cause of infantile interstitial lung disease |
| topic | interstitial lung disease multisystemic smooth muscle dysfunction syndrome congenital mydriasis infant case report |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2024.1510969/full |
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