title: Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.
abstract: A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic sphingomyelinase. The anesthetic management involved strategies to manage an anticipated difficult intubation and avoid post-operative ventilation.
authors.affiliation: Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Priti G
authors.initials: PG
authors.lastname: Dalal
authors.affiliation: Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: Coleman
authors.affiliation: Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Meagan
authors.initials: M
authors.lastname: Horst
authors.affiliation: Department of Surgery, Division of Pediatric Surgery, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Dorothy
authors.initials: D
authors.lastname: Rocourt
authors.affiliation: Department of Pediatrics, Department of Pediatrics, Division of Human Genetics, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Roger L
authors.initials: RL
authors.lastname: Ladda
authors.affiliation: Department of Pediatrics, Department of Pediatrics, Division of Human Genetics, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
authors.forename: Piotr K
authors.initials: PK
authors.lastname: Janicki
keywords: Anesthesia; Niemann-Pick disease; genomic and biochemical analysis