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Year : 2008  |  Volume : 52  |  Issue : 4  |  Page : 453 Table of Contents     

Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter

1 Professor, Department of Anaesthesiology, Karnataka Institue Of Medical Sciences (Kims), Hubli-580022, Karnataka., India
2 Ex PROFESSOR EMERITUS, Department of Anaesthesiology, Karnataka Institue Of Medical Sciences (Kims), Hubli-580022, Karnataka., India

Date of Acceptance03-May-2008
Date of Web Publication19-Mar-2010

Correspondence Address:
Madhuri S Kurdi
Department of Anesthesiology, Karnataka Institute of Medical Sciences (KIMS), Hubli-580022, KARNATAKA
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Source of Support: None, Conflict of Interest: None

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Cases of Mucopolysaccharidoses (MPS), though rare, may pose many challenges for the anaesthesiologist. Maintaining the airway may be extremely difficult even in the most experienced hands. We present here, two breath taking airway securing experiences-one emergency and the other elective- in a 10 year old child of Mucopolysaccharidoses (MPS) who presented to us for repair of an irreducible umbilical hernia.

Keywords: Mucopolysaccharidoses (MPS), Difficult airway, Induction, Paediatric, Endotracheal intubation, Umbilical hernia, Laryngeal mask airway (LMA).

How to cite this article:
Kurdi MS, Deshpande S S. Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter. Indian J Anaesth 2008;52:453

How to cite this URL:
Kurdi MS, Deshpande S S. Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter. Indian J Anaesth [serial online] 2008 [cited 2021 Jul 23];52:453. Available from: https://www.ijaweb.org/text.asp?2008/52/4/453/60662

   Introduction Top

Mucopolysaccharidoses (MPS) are a heteroge­neous group of clinically progressive inherited diseases characterized by excessive storage and excessive ex­cretion of mucopolysaccharides [1] . The fundamental defect is the absence or insufficiency of key lysosomal enzymes catalyzing the metabolism of the main com­ponents of connective tissue [2] . This leads to accumula­tion of incompletely catabolised mucopolysaccharides in connective tissue throughout the body especially bone, brain, liver, blood vessels, skin, cartilage, air­ways, heart valves and cornea [3] . In this group of dis­eases, there are seven recognized syndromes which are classified eponymously [3] . Charles Hunter first de­scribed MPS in1917 followed by Gertrude Hurler in 1919 [4] . The frequency of MPS is between 3.5 / 1, 00,000 to 4.5 / 1, 00,000. The most common is type­III (San filippo) followed by type I (Hurlers, Hurler­Scheie) and type II (Hunter) [5] . A specific diagnosis of any of the MPS is done on the basis of distinctive clini­cal and radiological features [6] . The skeletal deformities have been termed as 'dysostosis multiplex' by Hurler in 1931 [6] . The diagnosis is confirmed by skin biopsy, serum enzyme analysis or urinary screening for mucopolysaccharide degradation products [2] . The dysfunc­tion of organs and anatomical abnormalities may cause major problems in anaesthesia. Hurler's syndrome is the prototype of MPS and has been described as "the worst airway problem in paediatric anaesthesia" [7] . The overall perioperative mortality in children with MPS has been estimated to be about 20% primarily as a result of upper airway obstruction [2] . We describe here, two interesting experiences of anaesthetizing a child with MPS who presented to us for repair of an umbilical hernia.

   Case report Top

A ten-year-old male child diagnosed as a case of Mucopolysaccharidoses [Hurler's syndrome] was scheduled for emergency repair of an irreducible um­bilical hernia. He presented to the Department of Pae­diatrics with a history of swelling of umbilicus since birth, gradually progressing in size and associated with in­crease in the size of abdomen. There was a history of snoring during sleep. There was no history of mouth breathing, rhinorhoea, stridor or chest pain. There was a history of breathlessness on walking a short distance. There was no history of previous surgery or anaesthe­sia. Birth history and developmental milestones were normal.

Bilateral corneal haziness was noted soon after birth. There was a history of similar physical appear­ance in the patient's elder sister aged eleven years. There was a history of second-degree consanguinity.

On clinical examination, the child appeared to have a less than average intelligence but was placid and co­operative. He was short statured (height 99.5 cm, ex­pected height 115 cm), weighed 19.5 kg (expected weight 24 kg) and had a short neck. He had coarse facies, patulous lips, a broad nose and a depressed nasal bridge. There was bilateral clouding of the cor­nea and bilateral visual acuity which was restricted to finger counting only. There was bilateral parotid en­largement and the head was boat shaped. The head circumference was 52.5cm. There were severe flexion contractures of both elbow joints, both knee joints, proximal and distal inter phalangeal joints. There was widening at both wrists and ulnar deviation of both fore­arms. Fingers were short and stubby. There was genu valgum. The chest was deformed and appeared pigeon shaped. There was a thoraco-lumbar kypho-scoliosis. The patient had a waddling gait. Clinical examination of cardiovascular and respiratory systems did not re­veal any other abnormality. The abdomen appeared pro­tuberant. At the umbilicus, there was a swelling 6x6 cm in size. Skin over the swelling was necrosed and ulcer­ated. The liver was enlarged 8cm below the right cos­tal margin. The spleen was enlarged 4 cm below the left costal margin. The inter incisor distance was 3cm. The mandible was receding. Upper lip bite test could not be elicited. The thyro-mental distance was 4 cm. The hyo-mental distance was 3cm. The sternomental distance was 10.5cm. The horizontal length of man­dible was 11cm. The mouth opening was limited with Mallampati Class 3. The tongue was furrowed. The range of motions in the jaw, head and neck appeared normal [Figure 1] Haemogram, routine urine examination, liver function tests and renal parameters were normal. ECG was normal.

Radiological skeletal survey showed

1. Scaphocephaly, thickened calvarial bones with increased density, omega-shaped sella, frontal boss­ing, underpneumatisation of paranasal sinuses. 2. Infe­rior beaking of the vertebral bodies, focal kyphosis at thoracolumbar junction.3. Narrow thorax with flat rib­bon-like ribs. 4. Shortening of the long bones of limbs with modelling deformity and widening of marrow spaces, ulnar deviation of hand at wrist due to shorten­ing of the ulna, bullet-shaped metacarpals with proxi­mal beaking.

Ultrasonography of the abdomen revealed hepato- spleno-megaly and bulky pancreas.

Echocardiography revealed thickened mitral valve with mild mitral stenosis, mild mitral regurgitation, mild aortic regurgitation, trivial tricuspid regurgitation with mild pulmonary arterial hypertension. Mitral valve ori­fice was 1.8 cm 2

Peripheral blood smear by Toluidine blue stain­ing revealed metachromatic granules in lymphocytes

Urine was positive for MPS by Toluidine blue(Berry's) strip test.

Anaesthetic management: After clinical exami­nation and routine investigations, the patient was provi­sionally diagnosed as MPS with an irreducible umbilical hernia. He was posted for emergency repair of the her­nia. The patient was premedicated with intravenous glycopyrrolate 0.1mg and intravenous fentanyl 15mcg, 10 minutes before induction. Preoxygenation with 100% oxygen via a facemask was done. Induction was done with intravenous propofol 40mg.Ventilation with facemask was tried and it was possible. Following this, intravenous succinylcholine 30mgwas given. Ventilation with the facemask failed at this juncture. Immediately, endotracheal intubation was attempted using a laryngo­scope with McIntosh No 2 blade. This revealed a Cormack-Lehane grade III laryngoscopic view. An at­tempt was made to guide a 5mm conventional endotra­cheal tube with a stylet into the glottic aperture. This was unsuccessful. Ventilation via a facemask and oropharyn­geal airway was again tried and was not possible. Mean­while, the oxygen saturation started falling. Immediately, a classic LMA No 2.5 was inserted and the patient was ventilated with 100% oxygen. After a few minutes, the patient regained spontaneous respiratory efforts. Mean­while, the patient's abdomen got distended because of air in the stomach resulting from attempts at face mask ventilation. The surgery was postponed to a later date when better arrangements for an anticipated difficult in­tubation could be made. The LMA was removed. Pass­ing of a nasogastric tube was attempted but was not pos­sible. Here, a Proseal LMA could have helped to solve the problem but it was not available. The patient was maintaining 100% oxygen saturation on room air and was shifted to the ward for conservative surgical man­agement.

Meanwhile, ENT advice was sought. Indirect laryngoscopy could not be performed properly as the patient was not co-operative. The tongue and hard palate appeared to be furrowed and tonsils were nor­mal. Anterior rhinoscopy was normal. Echocardiography, X ray chest and skeletal survey were done. Urine and peripheral blood smear were tested for MPS. All proved the diagnosis of MPS.

The patient was posted for elective surgery after two days for anatomical repair of the umbilical hernia. This time, consent for tracheostomy was taken. A clas­sic LMA was kept ready and a senior anaesthesiologist was on standby. The patient was premedicated with atropine 0.4mg, midazolam1mg and intravenous fenta­nyl 15mcg. He was preoxygenated and induced with intravenous propofol 40mg. Direct laryngoscopy was attempted with the patient on spontaneous ventilation. This revealed Cormack-Lehane grade III laryngo­scopic view. Endotracheal intubation with a 5mm con­ventional tube was tried and was not successful. Top up doses of intravenous propofol were given as neces­sary. Oral endotracheal intubation was tried again with smaller size tubes, change in position of head and neck and BURP maneuver. This was also not successful. Finally, blind nasal intubation with a 4mm ETT was done [Figure 2] with the patient on spontaneous ventilation and with propofol supplementation. The patient was main­tained on oxygen, nitrous oxide and intermittent hal­othane with vecuronium as muscle relaxant. At the end of surgery, the patient was reversed with neostigmine 1mg and atropine 0.4mg. Extubation was done after the patient was opening his eyes and responding to oral commands. The postoperative period was uneventful. The child was discharged on the sixth postoperative day

   Discussion Top

Although MPS are rare disorders, their disabling and progressive nature involves frequent surgical inter­ventions like ENT, ophthalmic, neurosurgical and or­thopaedic procedures [2],[4] . Umbilical and inguinal her­nias due to abdominal protuberance from hepato-sple­nomegaly and ineffective connective tissue supports of the anterior abdominal wall frequently occur in the MPS [2],[8] . Nevertheless, our patient presented for surgi­cal correction of an irreducible umbilical hernia.

During our first anaesthetic encounter with the patient, there was no time for special investigations since it was an emergency case. Also, the diagnosis of MPS was only provisional. Though we knew that MPS may sometimes present with a difficult airway, we were not fully prepared for the serious problems that could arise. Nevertheless, we opted for general anaesthesia with intravenous induction keeping classic LMA ready at hand. Various induction techniques have been described by various authors for MPS. Local anaesthetic tech­niques are generally unsuitable as the sole form of ana­esthesia in young children. They can be used in older patients with normal intelligence [8] . Regional techniques may fail in MPS because of abnormal chemical depo­sitions in the nervous system [11] . Procedures requiring intraperitoneal manipulation require general anaesthe­sia with endotracheal technique to offer good relax­ation and to prevent aspiration of gastric contents. Many authors mentioned that inhalational induction is preferable to intrave nous induction for younger pa­tients of MPS with marked potential for airway ob­struction [3] . However, few authors say that intravenous induction with ketamine or low dose thiopentone may prove more satisfactory than inhalation induction in unco-operative patients as long as spontaneous venti­lation can be maintained until adequate airway control is achieved by tracheal intubation [2] . Nevertheless both inhalational and intravenous inductions carry potential risks in children with significant somatic involvement [3] .

King, Jones and Barnett have stated that inhala­tional induction is difficult and potentially hazardous in MPS because of the problems of maintenance of ad­equate airway [1] . Also, because of the shape of the face in Hurler's syndrome, standard paediatric masks may not offer a secure fit over the face with a protruding large tongue, patulous mouth and broad chin. Also, when patency of the upper airway is doubtful, intravenous induction should be done carefully. Muscle paralysis is contraindicated unless it is established that the patient's lungs can be adequately ventilated [1] . Accordingly, dur­ing our first anaesthetic encounter, the ability to ventilate the patient with facemask was tested before ad­ministration of succinylcholine. Here again, many au­thors have reported instances of ability to ventilate with facemask before administration of muscle relaxant but inability to do so after giving muscle relaxant. This is exactly what happened in our case where a "cannot ventilate, cannot intubate" situation arose. Here, the classic LMA proved to be life saving. Walker et al in their review article on MPS have stated that the LMA was found to be extremely useful both to provide a secure airway for short procedures and also to clear the obstructed airway in many cases of MPS [8] . How­ever Diaz and Belani state that nasopharyngeal airways, LMAs and oral airways are controversial airway maintenance aids in MPS cases and should be available but avoided if possible. Stiff nasopharyngeal tubes can cause adenoidal haemorrhage due to blind passage through the nasopharynx [2] . Emergency tracheostomy could have been another choice in our anaesthetic management. However, Diaz and Belani report that tra­cheostomy may be extremely difficult in children with MPS. Although quicker than tracheostomy, cricothyrotomy is not recommended for MPS patients whose cricothyroid membrane, cricoid and thyroid cartilages are often thickened and deformed by mucopolysachharide deposits, making rapid dissection difficult and vocal cord damage likely [2] .

The overall incidence of difficult intubation in MPS has been reported to be 25% and that of failed intuba­tion as 8% [8]. The failure rate is high even in the most experienced hands [11] . In Hurler's or Hunter's syndrome, the incidence of airway related problems has been reported to be 53% [3] . In Morquio's disease, a type of MPS, laxity of trachea and major bronchi can lead to total airway collapse [9] . In MPS, intra anesthetic obstruc­tion at nasopharyngeal, oropharyngeal, laryngeal and subglottic levels may occur due to several factors, like­a large tongue, tonsillar hypertrophy, thickened mucous membranes, adenoidal hypertrophy, thick copious se­cretions of chronic infection, narrow and flattened tra­chea, oro-facial skeletal deformities, anterior and ceph­alad shift of larynx, short immobile neck, limited temporo mandibular and cervical spine movements [8] . In muco­polysaccharide disease, increase in the bulk of soft tis­sues in the mouth can make intubation extremely diffi­cult [11] . Many of these features were present in our case thereby leading to a difficult airway.

Regarding airway assessment in children, predic­tion of difficult airway by the Samsoon and Young modi­fication of Mallampatti classification in children between 0-16 years of age is inaccurate [10] . The assessment is hampered by lack of co-operation in infants and young children. No controlled trials are yet available for evalu­ation of mandibular space, neck mobility and jaw move­ments to predict difficult laryngoscopy in paediatric patients. Mento-hyoid, thyro-mental, mandibular and inter dental lengths have no value to predict difficult airway in paediatrics. History of snoring, daytime som­nolence and stridor may indicate airway obstruction [10] . History of snoring was present in our case. Airway assessment in children should include mainly evaluation of size and symmetry of mandible, tongue size, promi­nence of upper incisors and range of motion in jaw, head and neck [10] .

Various tracheal intubation techniques have been described for MPS cases. These include direct laryn­goscopy for antegrade tracheal intubation as was done in our case, flexible fibre-optic intubation, retrograde intubation and tracheostomy [2] . Awake orotracheal in­tubation is difficult in severely retarded patients with MPS because of lack of patient co-operation. Blind nasal intubation technique utilizing airflow sounds is not recommended because of the fear that the sharp tip of a blindly advancing, stiff nasotracheal tube may skewer hypertrophied adenoidal tissues, precipitate nasopha­ryngeal bleeding, trigger laryngeal spasm or blood as­piration. Orotracheal intubation by direct laryngoscopy in a spontaneously breathing patient guided by airflow noises as the tube tip approaches the glottis and by the sight of air bubbles near the glottis is advocated [2] . We used the technique of blind nasotracheal intubation guided by airflow noises. The technique of fibre-optic bronchoscopy aided intubation has superseded that of blind nasal intubation, which because of its variable success rate and need for neck manipulation is not suitable for children with MPS [8] . Unfortunately, the fibreoptic bronchoscope was not available in our insti­tute.

Progressive mucopolysaccharide infiltration of tra­cheal cartilages continues with aging leading to fatal distal tracheal obstruction by the age of 10-20years. The skeletal and soft tissue abnormalities grow with the patient and hence, endotracheal intubation becomes more and more difficult with age [2],[11] . Thus, if our pa­tient were to undergo another anaesthesia experience a few years from now, the concerned anaesthesiologist would probably be faced with an airway much more difficult to handle than what we faced.

Several documented cases of fatal postoperative respiratory obstruction in MPS exist [1] . In our case, how­ever, the postoperative period was uneventful.

To conclude, one should be extremely cautious while anaesthetizing a case of MPS. A full knowledge of the patho-physiology of MPS, a thorough preop­erative evaluation, a careful consideration of the risks versus benefits involved in doing the surgery, careful induction by an experienced anaesthesiologist with an­ticipation of a difficult airway, good intraoperative monitoring and postoperative management in a high depen­dency unit are crucial factors for the successful man­agement of cases of MPS.

   References Top

1.King D H, Jones R M, Barnett M B. Anesthetic consid­erations in the Mucopolysaccharidoses. Anaesthesia 1984; 39:126-131.  Back to cited text no. 1      
2.Diaz James H, Belani Kumar G. Perioperative manage­ment of children with Mucopolysaccharidoses.Anesth Analg 1993; 77:1261-70.  Back to cited text no. 2      
3.Herrick L A, Rhine Elliot J. The Mucopolysaccharidoses and anesthesia: a report of clinical experience. Cana­dian Journal of Anesthesia 1988; 35: 67-73.  Back to cited text no. 3      
4.Sjogren P, Pederson T, Steinmetz H. Mucopolys­accharidoses and anesthetic risks. Acta Anesthesiol Scand 1987; 31: 214-218.  Back to cited text no. 4      
5.Jurgen Spranger. Mucopolysaccharidoses. In: Nelson's textbook of Pediatrics, Philadelphia; Saunders, Elsevier, vol I, 2007: 620-626.  Back to cited text no. 5      
6.Das Amitava, Ray Biswarup. Images in Hurler's disease. The Indian Journal of Radiology and Imaging 2007; 17:277-79.  Back to cited text no. 6      
7.Sjogren P, Pederson T. Anesthetic problems in Hurler­Scheie Syndrome. Report of two cases. Acta Anesthesiol Scand 1986; 30:484-486.  Back to cited text no. 7      
8.Walker R W M, Darowski M, Morris P, Wraith J E. Anes­thesia and Mucopolysaccharidoses - A review of air­way problems in children. Anaesthesia 1994; 49: 1078­-1084.  Back to cited text no. 8      
9.Walker P P, Rose E, Williams J G. Upper airway abnor­malities and tracheal problems in Morquio's Disease­Case report. Thorax 2003; 58: 458-59.  Back to cited text no. 9      
10.Kundra Pankaj, Harikrishan S. Airway management in children. IJA 2005; 49: 301-305.  Back to cited text no. 10      
11.Vas Lakshmi. Preanaesthetic evaluation and premedica­tion in Paediatrics. Ind J Anaesth 2004; 48: 347-353.  Back to cited text no. 11      


  [Figure 1], [Figure 2]


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