title: Surgery for gastroesophageal reflux disease with Gaucher disease type 2.
abstract: Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136-day-old Japanese boy with Gaucher disease type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint contractures, hepatosplenomegaly and thrombocytopenia, but he also had GERD. Accordingly, a Nissen fundoplication with gastrostomy was performed. There was no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation. In the perioperative period, there was no prolonged wound healing or infection. GERD was improved. In the near future, the number of long-term survivors of Gaucher disease will increase due to improvements in medical therapy. Therefore, it is expected that the number of patients requiring fundoplication will also increase. In patients with successful medical therapy, surgical fundoplication can be safely and effectively performed.
authors: Departments of Pediatric Surgery, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Hiroyuki
authors: H
authors: Kubo
authors: Departments of Pediatric Surgery, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Ryuichi
authors: R
authors: Shimono
authors: Departments of Pediatric Surgery, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Aya
authors: A
authors: Tanaka
authors: Departments of Pediatric Surgery, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Takayuki
authors: T
authors: Fujii
authors: Maternal Perinatal Center, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Saneyuki
authors: S
authors: Yasuda
authors: Maternal Perinatal Center, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Kosuke
authors: K
authors: Koyano
authors: Maternal Perinatal Center, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Wataru
authors: W
authors: Jinnai
authors: Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Sonoko
authors: S
authors: Kondo
authors: Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Takeo
authors: T
authors: Kondo
authors: Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors: Takashi
authors: T
authors: Kusaka
mesh_terms: D018662:Fundoplication / Q000379:methods*; D005764:Gastroesophageal Reflux / Q000150:complications / Q000601:surgery*; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male
keywords: Gaucher disease; fundoplication; gastroesophageal reflux disease; gastrostomy; surgery