Pediatric Syndromes

Question 1

Trisomy 21

Answer 1

Down syndrome

Most frequent chromosomal aberration

Question 2

Down Syndrome

Anesthetic Considerations

Answer 2

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

Question 3

Mucopolysaccharidosis (MPS)

Answer 3

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

Question 4

MPS Subtypes

Answer 4

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

Question 5

Hurler Syndrome

Answer 5

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)

Question 6

Hurler

Anesthetic Considerations

Answer 6

Extremely difficult airway
Airway obstruction worsens w/ age especially after 2yo
Cardiac - coronary artery narrowing, ischemia heart disease, mitral valve thickening, cardiomegaly
Atlantoaxial subluxation

Question 7

Hunter Syndrome

Answer 7

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

Question 8

Hunter

Anesthetic Considerations

Answer 8

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

Question 9

MPS

Anesthetic Risks

Answer 9

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

Question 10

CHARGE Syndrome

Answer 10

Eye colobomas
Heart disease
Choanae atresia
Retarded growth or CNS anomalies
Genital anomalies
Ear anomalies or deafness

Diagnosis requires at least 4 present

Question 11

CHARGE

Anesthetic Considerations

Answer 11

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

Question 12

Cystic Fibrosis

Answer 12

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

Question 13

Cystic Fibrosis Diagnosis

Answer 13

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

Question 14

Cystic Fibrosis

Pulmonary

Answer 14

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

Question 15

Cystic Fibrosis Treatment

Answer 15

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

Question 16

Cystic Fibrosis

Anesthetic Considerations

Answer 16

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

Question 17

Cerebral Palsy

Answer 17

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

Question 18

Cerebral Palsy Treatment

Answer 18

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

Question 19

Cerebral Palsy

Anesthetic Considerations

Answer 19

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

Question 20

Pierre-Robin Sequence

Answer 20

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

Question 21

Pierre-Robin

Anesthetic Considerations

Answer 21

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