| Achondroplasia | - Autosomal dominant
- Most common cause of dwarfism
- Odontoid hypoplasia, atlantoaxial instability, bulging discs, and severe cervical kyphosis
- Central sleep apnea and OSA may be a feature
- Pulmonary HTN
- Cor pulmonale
- Hydrocephalus
| - Proportionately smaller airways
- Potential airway difficulties, cervical spine instability, and the potential for spinal cord trauma with neck extension; obtain cervical spine x-rays. Consider FOB intubation
- Consider PFTs
- ETT size should be weight based
- Relative contraindication to neuraxial blocks
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| Alport syndrome (hereditary nephritis) | - Ocular abnormalities and hearing loss
- Disease culminates in systemic HTN and renal failure
| - Intraglomerular pressure may be lowered by ACEI
- Same anesthetic considerations as in renal failure and HTN
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| Ankylosing spondylitis | - Chronic, progressive, inflammatory disease spine articulations and adjacent soft tissues
- Occurs more commonly in men
- Spine exam reveals skeletal muscle spasm, loss of lordosis, and decreased mobility
- Weight loss, fatigue, low-grade fever, conjunctivitis, and uveitis are systemic signs
- Pulmonary involvement may reveal apical cavitary lesions with fibrosis and pleural thickening with ↓ pulmonary compliance and vital capacity secondary to arthritis; restrictive syndrome (30–45% of patients after 15 years)
- Associated psoriasis
- TMJ involvement with limitation of mouth opening
- Cardiovascular: AI (up to 10% after 30 years), dysrhythmias, conduction abnormalities
- Renal insufficiency: rare
| - May need awake FOB intubation if cervical spine is involved (major kyphosis)
- Restrictive lung disease may result in higher airway pressures
- Spinal deformity and instability: careful positioning and padding
- Neuraxial anesthesia is acceptable but may be difficult
- Neurologic monitoring should be considered for corrective spine surgery
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| Arthrogryposis | - One type, autosomal recessive, is a myopathy
- Other type: polymalformative syndrome
- Multiple extremity contractures due to periarticular fibrosis with muscular atrophy
- Possible TMJ and spine involvement (cervical spine ⇒ intubation issues; thoracic spine ⇒ restrictive syndrome
| - Plan for difficult intubation
- Careful positioning
- Sensitive to sedatives/anesthetics
- Myopathy: avoid succinylcholine; monitor NMB
- Possible MH
- Monitor postoperatively for possible respiratory failure
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| Bartter syndrome | - Autosomal recessive renal disease
- Hypokalemic, hypochloremic metabolic alkalosis
- Normal blood pressure, no edema
- Elevated plasma renin and aldosterone
- Treatment aimed at prostaglandin synthetase inhibition with indomethacin
| - Patients may be treated with indomethacin, β-blockers, and spironolactone
- Monitoring of urine output (compensate for polyuria), arterial blood pressure, and CVP is indicated
- Patients are resistant to effects of exogenous angiotensin and norepinephrine
- Watch for hypokalemia and hypotonia
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| Bullous dermatitis (Lyell, Stevens–Johnson, pemphigus, bullous pemphigoid, etc.) | - Separation of epidermis
- Skin and mucous membrane bullous lesions may lacerate
- Most severe form is Stevens–Johnson syndrome
- May be associated with viral infection, streptococci, cancer, autoimmunity, collagen vascular diseases or drug-induced
- Tachycardia, high fever, and tachypnea may be features
- Treatment may involve long-term corticosteroids
- Associated diseases include porphyria, amyloidosis, multiple myeloma, DM, and hypercoagulable states
- Malnutrition, anemia, electrolyte derangements, and hypoalbuminemia are common
| - Upper airway and trachea may have lesions → airway management should be approached with caution
- Regional anesthesia may be given if skin is intact
- Pulmonary blebs may be present → ↑ risk of PTX
- Avoid NO if blebs are suspected
- Steroid supplementation may be ...
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