Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.

Abstract

Background: Mucopolysaccharidosis (MPS) Type III (MPS III) or Sanfilippo syndrome is a rare autosomal recessive inherited metabolic disorder. This disorder is responsible for lysosomal storage disorder at the cellular aspect. Due to lysosomal enzyme perturbance leading to the alteration of macromolecule metabolisms, this cellular perturbance causes multiple severe systemic and mental outcomes. Sanfilippo syndrome is the most frequent lysosomal disorder among the different types of MPS. Case Presentation: A 9-year-9-month-old female was presented at our private clinic accompanied with her parents and referred from a general practitioner, and the preclinical examination revealed atypical craniofacial structure and skeletal features such as abnormal posture and movements adding on atypical behavioral manifestations such as temper tantrums, speech difficulties, dementia, and destructive behavior.