Anaesthetic Management of Fracture Neck of Femur in a Case of Hurler's Syndrome – A Case Report

Hurler’s syndrome is a type of mucopolysaccharidoses, a rare lysosomal storage disorder with a prevalence of 1 in 100,000 individuals, results from deficient α-L-iduronidase enzyme activity, leading to the accumulation of glycosaminoglycans within lysosomes. This condition presents unique challenges to the attending anaesthesiologist as it manifests with profound anomalies, including severe airway and cervical spine manifestation. Difficult intubation is reported in 54% of cases, with a 23% incidence of failed intubation, highlighting the critical need for specialized preoperative care.We describe a case of a 20-year-old male diagnosed with Hurler’s syndrome since birth, presenting with a fracture of the neck of femur. Given the risks associated with manipulation of the airway, the patient underwent CC-screw fixation under regional anaesthesia. The anaesthetic plan focused on avoiding airway manipulation and optimizing perioperative conditions under the guidance of a multidisciplinary team, including experienced anaesthesiologists.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2024-10-01
DOI
https://doi.org/10.5281/zenodo.13923287
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
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article

Anaesthetic Management of Fracture Neck of Femur in a Case of Hurler's Syndrome – A Case Report

Zenodo (CERN European Organization for Nuclear Research)
Lysosomal Storage Disorders Research
article

Anaesthetic Management of Fracture Neck of Femur in a Case of Hurler's Syndrome – A Case Report

article en

Abstract

Hurler’s syndrome is a type of mucopolysaccharidoses, a rare lysosomal storage disorder with a prevalence of 1 in 100,000 individuals, results from deficient α-L-iduronidase enzyme activity, leading to the accumulation of glycosaminoglycans within lysosomes. This condition presents unique challenges to the attending anaesthesiologist as it manifests with profound anomalies, including severe airway and cervical spine manifestation. Difficult intubation is reported in 54% of cases, with a 23% incidence of failed intubation, highlighting the critical need for specialized preoperative care.We describe a case of a 20-year-old male diagnosed with Hurler’s syndrome since birth, presenting with a fracture of the neck of femur. Given the risks associated with manipulation of the airway, the patient underwent CC-screw fixation under regional anaesthesia. The anaesthetic plan focused on avoiding airway manipulation and optimizing perioperative conditions under the guidance of a multidisciplinary team, including experienced anaesthesiologists.

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being
Openalex Percentile: Top 50%
Lysosomal Storage Disorders Research
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