Anaesthesiology

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Case Report International Journal of Medical Case Report

Anaesthetic Management of Fracture Neck of Femur in a

Case of Hurler’s Syndrome – A Case Report
Authors:- Afra Farheen Faiaz1, Mohammed InayathullaKhan2
1
Assistant Professor, Department Of Anaesthesiology, Kanachur Institute of Medical
Sciences,Mangalore, Karnataka.2Senior Resident, Department Of Orthopedics, Yenepoya Medical College,
Mangalore,Karnataka

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- Access This Article
L-iduronidase enzyme activity, leading to the accumulation of
glycosaminoglycans within lysosomes. This condition presents unique
This is an open access article
challenges to the attending anaesthesiologist as it manifests with profound
distributed under the terms of
anomalies, including severe airway and cervical spine manifestation. Difficult
the Creative Commons
intubation is reported in 54% of cases, with a 23% incidence of failed
Attribution-NonCommercial-
intubation, highlighting the critical need for specialized preoperative care. ShareAlike 3.0 License, which
We describe a case of a 20-year-old male diagnosed with Hurler’s syndrome allows others to remix, tweak,
since birth, presenting with a fracture of the neck of femur. Given the risks and build upon the work non-
associated with manipulation of the airway, the patient underwent CC-screw commercially, as long as the
fixation under regional anaesthesia. The anaesthetic plan focused on avoiding author is credited and the new
airway manipulation and optimizing perioperative conditions under the creations are licensed under
the identical terms.
guidance of a multidisciplinary team, including experienced anaesthesiologists.
Keywords:- Hurler’s syndrome, anaesthetic management, central neuraxial Copyright (c) 2023 International
blockade, perioperative care Journal Of Medical Case Report

INTRODUCTION
Mucopolysaccharidoses (MPS) is a rare inherited This work is licensed under a Creative
Commons Attribution-NonCommercial
lysosomal storage disorder associated with the 4.0 International License
progressive accumulation of glycosaminoglycans
(GAGs) in tissues and organs. Anaesthesia and
surgery in these patients carry a high mortality
risk due to serious complications, particularly
airway obstruction, which can cause ventilation
and oxygenation difficulties and significant
cardiovascular compromise.1

Corresponding Author :
Dr. Afra Farheen Faiaz
Assistant Professor, Department Of Anaesthesiology, Kanachur Institute of Medical Sciences,Mangalore,
Karnataka.

International Journal Of Medical Case Reports I Oct-Dec 2024 I Volume 5 I Issue 4-2024 Page 5
 Anaesthetic Management in a Case of Hurler’s Syndrome

Hurler’s syndrome, also known as MPS I, is On palpation of the spine, the patient had
characterized by a deficiency in the lysosomal significant kyphosis at the thoracolumbar region
enzyme α-L-iduronidase. This deficiency results resulting in gibbus deformity with reduced
in the accumulation of GAGs, leading to intervertebral spaces [Figure 2].
progressive multisystem involvement. Patients
with Hurler’s syndrome typically present with
distinctive facial features, skeletal abnormalities,
organomegaly, and severe neurological
impairment. Anaesthetic management in these
patients is particularly challenging due to potential
difficulties with airway management, cervical
spine instability, and the presence of multiple
comorbidities.2 Central neuraxial blockade is
another challenge in such patients as they present
with deformities of the spine like kyphosis and a
smaller volume of spinal cerebrospinal fluid,
potentially affecting the spread of local
anaesthetics. This report describes the anaesthetic
considerations and management of a patient with
Hurler’s syndrome undergoing surgery for a
fracture of the neck of the femur which was
managed with regional anaesthesia, avoiding the
Figure 2: X-Ray showing significant kyphosis at the
need for intubation.3,4
thoracolumbar level with reduced intervertebral
spaces.
CASE REPORT
The rest of the systemic examination was normal.
A 20-year-old male presented with a fracture of No abnormal values were found on routine blood
the neck of the femur on the right side, posted for investigations and 2D echocardiography. A
CC screw fixation. The patient was diagnosed written and informed consent was obtained from
with Hurler’s syndrome at birth and was known to the patient. The operating room was prepared with
have a seizure disorder since childhood, on regular a difficult airway cart and the patient was
medication with tablet Phenobarbitone and tablet approached with multidisciplinary care involving
Phenytoin. His intellectual functions were normal experienced anaesthesiologists. After attaching
for his age. The patient weighed 30 kilograms and standard monitoring and taking baseline
was 138 centimetres tall. Airway examination recordings, an 18-gauge intravenous cannula was
revealed adequate mouth opening, macroglossia, secured. The patient was placed in a sitting
modified Mallampati class III, and short neck with position and the skin was prepared with 0.5%
an adequate range of neck movements [Figure 1]. chlorhexidine and draped in a sterile manner. A
small amount of local anaesthetic (2%
Lignocaine) was injected into the L2-L3 and L3-
L4 interspaces. Using the midline approach, the
epidural space was accessed using the loss of
resistance technique at the level of L3-L4 with an
18-gauge Tuohy’s needle. The epidural catheter
was inserted and fixed to the skin at a depth of 9
cm. At the level of L2-L3 interspace, the dura was
pierced using a 25-gauge Quincke’s spinal needle.
Subsequently, 1.8 mL of 0.5% hyperbaric
Bupivacaine was injected along with an adjuvant
of Clonidine 15mcg. Intraoperatively, the patient
was hemodynamically stable. The surgical
procedure lasted for two hours and was
Figure 1: Airway examination showing macroglossia uneventful. The patient was transferred to the post
and a short neck. anaesthesia care unit with stable vital signs and
analgesia was maintained through the epidural

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 Anaesthetic Management in a Case of Hurler’s Syndrome

catheter with an infusion of 0.2% Ropivacaine at the spread of local anaesthetics. The deposition of
4ml/hr for a period of two days. excessive intra-lysosomal GAGs thickens the soft
tissues, resulting in the narrowing of the nasal
DISCUSSION airways, oral cavity, pharyngeal, and laryngeal
tissues. Perioperative mortality rates averaging 20-
Mucopolysaccharidoses type I - Hurler’s 30% have been reported for patients with this
syndrome has a prevalence of 1 in 100,000 people disease, with failure to control the airway as the
and is caused by a deficiency of the lysosomal largest single cause of mortality.7 The major
enzyme α-L-iduronidase, leading to the benefit of regional anaesthesia (RA) is related to
accumulation of glycosaminoglycans in multiple the non-manipulation of the airway, thus avoiding
systems in the body. Patients with the risk of difficult or failed intubation. The
mucopolysaccharidoses have profound anomalies deposition of mucopolysaccharides in the epidural
of the airway and the spine like macroglossia, space or around nerve sheaths can prevent direct
cervical spine instability, restricted movement of access of local anaesthetics to the nerve.8
the temporomandibular joints and anteriorly Nonetheless, apart from deposition of GAGs in
placed larynx, resulting in challenges in managing the epidural space, MPS is known to have other
the airway.5 They often have multisystemic vertebral anomalies and neurological involvement
involvement including abnormalities of the which can influence RA techniques. The common
cardio-respiratory and skeletal system, which problems of spines include high lumbar kyphosis,
manifests as restrictive lung disease. Progressive thoracic scoliosis, antero-inferior beaking of
neurodegenerative disease such as brain atrophy hypoplastic thoracolumbar vertebral bodies,
are more prominent in Hurler’s disease. Evidence thickening of the ligamentum flavum, and dural
of obstructive sleep apnoea should be sought; thickening. This can cause technical difficulty in
preoperative sleep studies may be required for full performing neuraxial techniques and also
evaluation and risk stratification. The high influence intrathecal drug spread.9,10
anaesthetic risk for these patients primarily is due
to predicted difficult airway and the presence of CONCLUSION
comorbidity like seizure disorder and anomalies of
the spine like kyphoscoliosis. They pose certain The MPS patient poses a major challenge to the
challenges to the attending anaesthesiologist in anaesthetist. The anaesthetic risk can be reduced
terms of providing neuraxial anaesthesia. An considerably if the anaesthetist anticipates
experienced anaesthetic team should always potential problems that may arise in these patients
manage these patients. Adequate preparation and during and after the procedure, including difficult
resuscitation equipment should be readily intubation and ventilation, and cardiac and
available for management of the airway. Always cervical spine issues. This requires a thorough
anticipate a difficult airway in patients with MPS preoperative evaluation and knowledge of the
and ensure the full range of difficult airway pathophysiology underlying the respiratory and
adjuncts is available. Securing an intravenous cardiac manifestations, as well as cervical and
access is another challenge in such patients due to tracheo-laryngeal anatomy in these patients.
the presence of tissue deposits, contractures, and Therefore, these difficult decisions should ideally
bony defects. Difficult airway should always be be made by a multidisciplinary team in a tertiary
anticipated as they have joint and bony referral centre experienced in the perioperative
involvement and a difficult airway cart should be management of MPS patients. Anaesthesia in
kept standby before the administration of patients with an unstable spine or for spine
anaesthesia. Preferably, sedative premedication surgery is particularly difficult and requires
should be avoided to prevent airway additional care and thought in the choice of
involvement.6 Instability of the cervical spine anaesthetic, monitoring and postoperative care.
should be presumed in the absence of flexion– Financial support and sponsorship: Nil
extension cervical spine films and the cervical
spine must be immobilized during tracheal Conflicts of interest (if present, give details): Nil
intubation. Short stature leads to a smaller volume
of spinal cerebrospinal fluid, potentially affecting

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 Anaesthetic Management in a Case of Hurler’s Syndrome

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Author Contribution:- AF-Initial of first author Concept and design of the case report, analysed the clinical
picture and prepared first draft of manuscript; MK- preparation of manuscript, and revision of the manuscript.
How To Cite This Article
Faiaz A,Khan M. Anaesthetic Management of Fracture Neck of Femur in a Case of Hurler’s Syndrome – A
Case Report. IJOMCR.2024;5(4):5-8.

Received : 05-07-2024 Revised: 11-08-24 Accepted : 30-08-24

International Journal Of Medical Case Reports I Oct-Dec 2024 I Volume 5 I Issue 4-2024 Page 8