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Sirolimus for treatment of refractory capillary malformations in SMA and PROS
  • Amy Hanson,
  • Princy Ghera
Amy Hanson
Indiana University School of Medicine
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Princy Ghera
University of Texas Southwestern Medical School
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Abstract

An adolescent female with ventilator-dependent spinal muscular atrophy type 1 (SMA-1) and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome had been struggling with recurrent small to large volume hemoptysis for years secondary to complex arteriovenous malformations (AVMs) in her lungs. Despite numerous embolizations, she continued to experience hemoptysis from new AVMs. She was then started on sirolimus (rapamycin) and remains hemoptysis-free for over 12 months. To our knowledge, there are no known cases of SMA-1 with MCAP syndrome and related complex vascular malformations successfully treated with sirolimus.

Peer review status:IN REVISION

26 May 2020Submitted to Pediatric Pulmonology
27 May 2020Assigned to Editor
27 May 2020Submission Checks Completed
10 Jun 2020Reviewer(s) Assigned
27 Jun 2020Review(s) Completed, Editorial Evaluation Pending
29 Jun 2020Editorial Decision: Revise Major