A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence
Year: 2025
Type: article
Study design: Case Report
Abstract: Ullrich congenital muscular dystrophy (UCMD) is a severe form of progressive congenital muscular dystrophy, and it presents with severe hypotonia, recurrent respiratory infections, respiratory failure, and problematic airway management secondary to congenital anatomical abnormalities and high aspiration risk. Pierre Robin sequence (PRS) is a rare congenital syndrome presenting at birth with a triad of micrognathia, glossoptosis, and chronic upper airway obstruction leading to known difficult airway management and opioid sensitivity. Perioperative management of both UCMD and PRS requires careful consideration of airway management, choice of anesthetic agents, and potential involvement of respiratory complications; each condition presents its own unique challenges. This report discusses the successful, complete anesthetic management of a patient with collagen 12 (COL12A1)-variant UCMD and concurrent PRS.
Source: Cureus
DOI: 10.7759/cureus.82170
Authors: Aileen F Haque, Vidhi Patel, Victoria Bradford
Institutions: Wayne State University, Children's Hospital of Michigan
Language: English
Subfield: Anesthesiology and Pain Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409396161