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Mucopolysaccharidosis (Hunters and Hurlers)

 

 

Background 

 

  • The mucopolysaccharidoses (MPS) are the result of a deficiency of lysosomal enzymes that cleave mucopolysaccharides (glycosaminoglycans)

  • An accumulation of mucopolysaccharides occurs in the brain, heart, liver, bone, cornea, & tracheobronchial tree. There are seven types & several subtypes of MPS, each with various clinical presentations 

  • Multisystem diseases but airway is the main concern: 

    • difficult intubation 53%

    • failed intubation 23%

 

 

Considerations

 

  • Review the patient's particular type of mucopolysaccharidoses & clinical features 

  • Airway:  

    • Difficult to impossible airway (BMV & DL) that worsens with time:

      • Macroglossia

      • Hyperplasia of adenoids, tonsils, pharyngeal tissue

      • Friable tissues

      • ↓ TMJ

    • Possible atlantoaxial instability (only for Morquio’s or MPS-IV) 

    • Difficult surgical airway (short neck, retrosternal trachea)

  • Respiratory:  

    • RLD: recurrent pulmonary infections, pectus excavatum & kyphoscoliosis

    • OSA, pulmonary hypertension 

    • Possible need for post-operative ventilatory support 

  • Cardiac: 

    • Cardiomyopathy

    • Diffuse CAD from coronary artery deposition

    • Valvulopathy: AI, MR

  • Neuro: 

    • Potential developmental delay, uncooperative

    • Dural thickening can result in compressive myelopathy

    • Developmental delay

    • Hydrocephalus

  • Others: 

    • Hepatosplenomegaly

    • Hepatic dysfunction

    • Periop risk of hypoglycaemia

    • Metabolic acidosis due to inability to convert lactic acid to glycogen (avoid ringer’s)

    • Hemorrhagic diathesis due to platelet dysfunction

 

 

Goals

 

  • Safe establishment of airway: 

    • Consider awake fiberoptic intubation 

    • If uncooperative: spontaneous breathing fiberoptic intubation 

    • Surgical backup for rigid bronchoscopy & tracheostomy immediately available

  • Avoid/minimize resp-depressants if possible

  • Perioperative monitoring of of serum glucose, minimization of fasting times when possible

  • Pre-operative identification & optimization of cardiac system

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