Anesthetic Considerations for a Child With Rare B3GALT6 Mutations: A Case Report. Issue 4 (15th February 2018)

• Record Type: Journal Article
• Authors: Brockel, Megan; Chatfield, Kathryn; Mirsky, David; Baker, Christopher D.; Janosy, Norah
• Is Part Of: A & A practice. Volume 10:Issue 4(2018)
• Publication Date: 2018-02-15
• Subjects: Analgesia -- Periodicals; Analgesia -- Case studies -- Periodicals; Anesthesiology -- Periodicals; Anesthesiology -- Case studies -- Periodicals; 617.9605
• DOI: 10.1213/XAA.0000000000000638
• Languages: English
• ISSNs: 2575-3126

Abstract

Abstract : A rare autosomal recessive disorder caused by mutations in the B3GALT6 gene on chromosome 1p36 results in deficiency of β-1, 3-galactosyltransferase 6, an enzyme critical for glycosaminoglycan biosynthesis. Defects in this gene result in a phenotype that has features of both skeletal dysplasia and a connective tissue disorder. The anesthetic considerations for children with this disorder have not previously been described. We report a collaborative, multidisciplinary approach to the perioperative care of a child with B3GALT6 mutations with severe phenotypic expression.