7.5
Syndromes
Klinefelter Syndrome
- Etiology/Risk Factors
- Genetic
- Mean age of diagnosis is 30 years old
- Only 25–50% are diagnosed during their lifetimes
- Pathophysiology
- Supernumerary X chromosome in an XY male: XXY
- Either maternal or paternal meiotic nondisjunction of X chromosome during ova or sperm production
- Infants may present with:
- Micropenis
- Hypospadias
- Cryptorchidism
- Teenage boys may present with
- Delayed puberty
- Behavioral abnormalities
- Learning disabilities
- Progressive fibrosis and destruction of seminiferous tubules and Leydig cells
- ↓ Sperm
- ↓ Testosterone production
- Small testes
- Infertility
- Associated dentofacial abnormalities
- Taurodontism
- Mandibular prognathism
- Agenesis of permanent teeth
- Treatment
- Dependent on age of diagnosis and severity of phenotype
- Often includes testosterone therapy
- Primary Concerns
- Related health issues
- Evaluation
- May not be noted on history
- Genetics consultation
- Anesthesia Management
- Patients not treated with testosterone may be obese and develop type 2 diabetes
- ↑ Risk of osteoporosis secondary to androgen deficiency
- No current literature on increased perioperative morbidity with patient who has Klinefelter syndrome
Rett Syndrome
- Etiology/Risk Factors
- Mutation of the MECP2‐encoding gene located on the X chromosome
- Expressed in all tissues
- Most abundant in the brain
- Only affects females
- Mechanism of symptomology unknown but may be due to failure of synaptic maturation and maintenance in the cortex
- Sporadic in almost all cases
- Mutation of the MECP2‐encoding gene located on the X chromosome
- Pathophysiology
- Normal development first 6–18 months of life, then loss of speech and purposeful use of hands
- Hypotonia
- Stereotypical hand movement
- Gait abnormality
- Deceleration of head growth
- Seizures
- Autistic features
- Disordered breathing pattern
- Bruxism
- Excessive drooling
- Treatment
- Behavioral medications
- Antiepileptics
- Management of associated conditions
- Primary Concerns
- Disordered breathing with alternating hyperventilation and apneic episodes
- Associated with long QT syndrome
- Hypotonia
- Behavioral concerns
- Evaluation
- History
- Physician consultation
- Cardiac consultation
- ECG
- Anesthesia Management
- Consider additional preoperative medication in uncooperative/anxious patients
- Continue antiepileptic medications day of surgery
- Insensitivity or hypersensitivity to pain
- ↑ Risk of respiratory complications [20]
- Often develop scoliosis
- Positioning
- Avoid non‐depolarizing neuromuscular blocking agents as patient is likely sensitive
Pierre Robin Sequence
- Etiology/Risk Factors
- Multifactorial
- Associated syndromes:
- Fetal alcohol syndrome
- Stickler syndrome
- Velocardiofacial syndrome
- Treacher Collins syndrome
- Pathophysiology
- First branchial arch embryologic defect
- Respiratory distress
- Feeding difficulties
- Cleft palate
- Micrognathia
- Glossoptosis
- Posterior inferior displacement of the tongue base with possible occlusion of the airway (Figure 7.22)
- Treatment
- Facial growth improves airway problems
- Surgical correction
- Glossopexy
- Mandibular distraction osteogenesis
- Palatoplasty
- Primary Concerns
- Airway
- Evaluation
- Physician consult
- Anesthesia Management
- Anticipate difficult airway even after corrective surgery
- Difficult airway covered on page 258
- ↑ Risk of OSA
- ↑ Risk of swallowing disorders and GER
- May have history of tracheostomy to manage airway obstruction
- Possible subglottic stenosis
- Anticipate difficult airway even after corrective surgery
Down Syndrome
- Etiology/Risk Factors
- Most common chromosomal abnormality in live births
- Meiotic nondisjunction error
- Advanced maternal age is a risk factor
- Pathophysiology
- Trisomy 21, an additional part of or whole chromosome 21
- Characteristics features:
- Upslanting palpebral fissures
- Almond‐shaped eyes
- Flat nasal bridge
- Low‐set ears
- Brachycephaly
- Protruding tongue
- Lingual tonsil hypertrophy
- Short neck
- Short stature
- Mild to moderate cognitive impairment
- Associated with ADHD and ASD
- CHD in 40% of patients
- Endocardial cushion defect
- VSD
- Associated morbidities:
- Subglottic stenosis
- TEF
- Seizures
- Hypothyroidism
- Treatment
- Antileptics
- Behavior medications
- Evaluation for associated comorbidities
- Supportive
- Primary Concerns
- Airway
- Atlantoaxial instability
- 13% of patients affected
- May lead to subluxation of C1/C2 and compression of spinal cord
- Radiographic exam is not routinely done unless symptomatic
- If children have participated in the Special Olympics they will have had screening radiographs
- Endocrinology
- Behavioral concerns
- Evaluation
- Auscultation
- Physician consult
- Cardiologist consult
- ECG
- Echo
- Endocrinologist consult
- For possible hypothyroidism
- Radiologist consult
- Evaluate for atlantoaxial instability
- Anesthesia Management
- Potential difficult airway, especially mask airway
- Cardiologist consultation strongly recommended
- Continue patient’s normally scheduled behavior‐modifying and antiepileptics medications
- Consider additional preoperative medication in uncooperative/anxious patients
- Often require smaller than expected ETT, especially for nasal intubation
- ↑ Rate of OSA
- ↑ Sensitivity to cardiodepressive effects of inhalation agents
- Manifested as bradycardia on mask induction
- Consider making first patient of the day to avoid dehydration
Angelman Syndrome
- Etiology/Risk Factors
- Microdeletion of maternally derived chromosome 15 between 15q11 and 15q13 (Figure 7.23)
- Pathophysiology
- “Happy Puppet” – apparent happy demeanor with emotional lability
- Severe developmental delay
- Fascination with water
- Seizures
- Spasticity, gait ataxia, and tremulous movement of limbs
- Disordered swallowing
- Aspiration
- GER
- Cyclic vomiting
- Excessive drooling
- Microcephaly
- Prognathia
- Wide mouth
- Treatment
- Antileptics
- Behavior medications
- Evaluation for associated comorbidities
- Supportive
- Primary Concerns
- Behavioral concerns
- Seizures
- GABAA receptor abnormalities
- Both increased and decreased sensitivity to hypnotics have been reported
- ↑ Vagal tone
- Cases of bradydysrhythmias under anesthesia are reported [21]
- Evaluation
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