Pediatric Syndromes Flashcards
Trisomy 21
Down syndrome
Most frequent chromosomal aberration
Down Syndrome
Anesthetic Considerations
Airway - assess atlantoaxial instability, OSA, subglottic stenosis (downsize ETT)
Cardiac - bradycardia on induction, SBE prophylaxis, assess pulmonary HTN
Variable developmental delays
Hypothyroidism → delayed gastric emptying & altered drug metabolism
Mucopolysaccharidosis (MPS)
Genetic lysosomal storage disease
Metabolic disorder w/ absent or malfunction enzymes to break down glycosaminoglycans GAGs (formally mucopolysaccharidosis) long-chain carbohydrates found in bone, skin, connective tissues, & cornea cells
Over time GAGs collect in cells & connective tissues → progressive & permanent damage
MPS Subtypes
MPS 1 - Hurler - α L iduronidase
MPS 2 - Hunter - Iduronate sulfatase
MPS 3 - Sanfilippo - Multiple types
MPS 4 - Morquio - N-acetylgalactosamine-6-sulfaste
MPS 6 - Maroteaux Lamy - N-acetylgalactosamine-4-sulfatase
MPS 7 - Sly - β glucoronidase
Hurler Syndrome
Genetic autosomal recessive MPS type 1 disease
Results in build-up glycosaminoglycans d/t α-L iduronidase deficiency
S/S appear during childhood
Early death frequently before 10yo d/t organ damage, airway disease, respiratory infections, or cardiac complications
Progressive deterioration, hepatosplenomegaly, dwarfism, unique facial features, progressive mental decline
Treatment = stem cell transplant (stops disease progression)
Hurler
Anesthetic Considerations
Extremely difficult airway
Airway obstruction worsens w/ age especially after 2yo
Cardiac - coronary artery narrowing, ischemia heart disease, mitral valve thickening, cardiomegaly
Atlantoaxial subluxation
Hunter Syndrome
X-linked mucopolysaccharidosis type 2
Variable presentation often apparent by 2-4yo
Less intellectual disability, joint disease, & organ involvement than Hurler
Slower progression
Death late teens w/o treatment
Hunter
Anesthetic Considerations
Difficult laryngoscopy & tracheal intubation
OPA potentially worsens airway → displaces epiglottis over larynx
Positioning challenging w/ stiff joints
OSA & postop obstructive pulmonary edema
Supraglottic airways (LMA) to fiberoptic intubate via
Opioid sensitivity
MPS
Anesthetic Risks
Airway - upper airway obstruction, mandibular abnormalities, short neck, high anterior larynx, abnormal thick secretions, tracheal distortion
Cardiac - valvular regurgitation or stenosis, systolic or diastolic dysfunction
Pulmonary - progressive restrictive disease w/ deposits build-up, OSA → pulmonary HTN
Neurological - hydrocephalus & seizures
Spinal Cord - cervical spine compression, atlantoaxial instability & vertebral subluxation, progressive meninges thickening & scarring
CHARGE Syndrome
Eye colobomas Heart disease Choanae atresia Retarded growth or CNS anomalies Genital anomalies Ear anomalies or deafness
Diagnosis requires at least 4 present
CHARGE
Anesthetic Considerations
Airway - laryngomalacia difficult to ventilate w/ LMA or mask airway, subglottic stenosis (smaller ETT), choanal atresia Ø NPA or NG tubes
Micrognathia → difficult intubation
Aspiration risk r/t GERD & impaired gag reflex
SBE prophylaxis in CHD
Interpreter w/ deaf patients
Cystic Fibrosis
Inherited autosomal recessive mutation on chromosome 9 long arm → misfolding CFTR protein
Membrane glycoprotein Cl¯ channel that contributes to ion flux regulation at various epithelial surfaces (sweat ducts, pancreatic duct, intestines, biliary tree, & vas deferens)
↑sweat chloride concentrations, viscous mucus production, lung disease, intestinal obstruction, pancreatic insufficiency, biliary cirrhosis, & congenital absence vas deferens
↓Cl¯ ↓Na+ → dehydration, viscous secretions, & electrolyte abnormalities
Cystic Fibrosis Diagnosis
Sweat chloride test > 80mEq/L + clinical manifestations (cough, chronic purulent sputum, exertion dyspnea)
Neonate - meconium ileus
Childhood - malabsorption & malnutrition d/t pancreatic insufficiency
Respiratory failure & chronic infections 2nd decade
Cystic Fibrosis
Pulmonary
Lung disease 1° cause morbidity & mortality
↑secretions, viscous mucus, & impaired ciliary clearance
Prone to recurrent infections
Chronic neutrophil inflammatory response
Bronchiectasis, emphysema, V/Q mismatch, & hypoxemia
Obstructive PFTs ↑FRC ↓FEV1 ↓PEF ↓VC
Chronic lung infections → restrictive disease
Cystic Fibrosis Treatment
Surgeries - polypectomy, functional endoscopic sinus, bronchoscopy, lung transplants
Goal to alleviate symptoms
- Treat malnutrition
- Relieve airway obstruction
Correct organ dysfunction - clear airway secretions, bronchodilators, ↓viscoelastic sputum, antibiotics, organ transplant, cholecystectomy, pneumothorax treatment
Cystic Fibrosis
Anesthetic Considerations
Postpone elective procedures until optimized
Volatiles ↓airway resistance & smooth muscle tone
Inhalational inductions prolonged d/t ↑FRC ↓Vt
Rapid hypoxia from V/Q mismatch
Short-acting anesthetics to minimize postop respiratory depression
Avoid anticholinergics & optimize hydration
Humidification
Frequent tracheal suctioning
Cuffed ETT to admin ↑ventilation pressures
Cerebral Palsy
Symptom complex
Cause unknown
Non-progressive conditions that result from an hypoxic insult early in life (or intrauterine) or brain lesions/anomalies
Varying developmental delay
Mild local weakness → severe spastic quadriplegia
Seizure disorders
Cerebral Palsy Treatment
Corrective orthopedic procedures, dental restoration, or anti-reflux (Nissen)
Avoid acute seizure and/or muscle spasticity medications withdrawal
- Hepatic enzyme induction
- Lethargy/sedation
- Synergism w/ anesthesia drugs
Cerebral Palsy
Anesthetic Considerations
Determine patient baseline
Tracheal intubation ↑secretions w/ impaired swallowing (aspiration risk)
Antiepileptic medications more resistance to NDMRs
Susceptible to hypothermia
Difficult to position w/ contractures
Slow emergence
Prolonged ventilation d/t pulmonary complications postop → ICU admit
Pierre-Robin Sequence
Congenital condition or sequence/chain of developmental facial malformations
- Hypoplastic mandible (micrognathia)
- Pseudo-macroglossia (posterior tongue displacement)
- High arched cleft palate
Typically diagnosed shortly after birth d/t respiratory difficulty
Prone position helps to displace the tongue
Trach placement, mandibular distraction, & cleft palate repair
Pierre-Robin
Anesthetic Considerations
Airway - difficult intubation, obstructive apnea, airway obstruction improves w/ age
Cardiac - vagal hyperactivity; severe chronic airway obstruction → cor pulmonale
Neuro - brainstem dysfunction w/ central apnea
Difficulty feeding requiring specialized nipple
Assess hydration & nutritional status
