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CASE REPORT article

Front. Pharmacol.
Sec. Obstetric and Pediatric Pharmacology
Volume 15 - 2024 | doi: 10.3389/fphar.2024.1510969

Multisystemic Smooth Muscle Dysfunction Syndrome: A Rare Genetic Cause of Infantile Interstitial Lung Disease

Provisionally accepted
Qianying Li Qianying Li 1Lidan Cui Lidan Cui 2Jun Su Jun Su 1Yuelin Shen Yuelin Shen 3*
  • 1 Children’s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan Province, China
  • 2 Children’s Hospital Affiliated of Zhengzhou University, Zhengzhou, Henan Province, China
  • 3 National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

The final, formatted version of the article will be published soon.

    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.

    Keywords: Interstitial Lung Disease, Multisystemic smooth muscle dysfunction syndrome, Congenital mydriasis, Infant, case report

    Received: 14 Oct 2024; Accepted: 23 Dec 2024.

    Copyright: © 2024 Li, Cui, Su and Shen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Yuelin Shen, National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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