Anesthetic Challenges in a Pediatric Patient with GORAB Mutation: A Case of Bilateral Orchiopexy
Abstract
Gerodermia Osteodysplastica (GO), associated with a GORAB gene mutation, is a rare genetic disorder characterized by severe connective tissue abnormalities, including skin laxity, osteopenia, and premature aging features. Anesthetic and perioperative management in these patients presents significant challenges due to skin fragility, skeletal vulnerability, and nutritional deficiencies. Individualized, multidisciplinary care is essential to prevent iatrogenic complications. We report the anesthetic management of an 8 kg, 2-year-old male child with a confirmed GORAB gene mutation (NM_152281.3) scheduled for bilateral orchiopexy. The child presented since birth with skin atrophy, reduced subcutaneous fat, malnutrition, and low BMI. A multidisciplinary preoperative plan was crucial, and nutritional optimization was initiated. Specific measures for tissue protection included adhesive-free monitoring (silicone electrodes) and gel supports at pressure points to prevent injury. Anesthesia was induced with sevoflurane. Airway management utilized a video laryngoscope for intubation, and spinal anesthesia was administered post-intubation for superior analgesia. Intraoperative care focused on maintaining normothermia, neutral positioning, and careful handling to mitigate the risk of iatrogenic fractures due to osteopenia. Conclusion: Postoperative recovery was uneventful, and skin integrity was perfectly preserved. Anesthetic management of pediatric patients with GORAB mutations demands meticulous planning and a tailored approach focused on skin and bone protection to ensure a safe perioperative course.
Keywords: Gerodermia osteodysplastica; GORAB mutation; pediatric anesthesia; perioperative management; skin fragility; osteopenia; nutritional optimization; orchiopexy; sevoflurane induction
Keywords:
Gerodermia osteodysplastica, GORAB mutation, pediatric anesthesia, perioperative management, skin fragility, osteopenia, orchiopexy, sevoflurane inductionDOI
https://doi.org/10.22270/jddt.v16i10.8048References
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