Week 12: Syndromes Flashcards
1
Q
Achondroplasia
- Majority of cases born to parents of ____ height (80% sporadic mutation)
- Common features include:
- Anesthetic considerations include proper positioning of extremities, difficult IV access & insertion, a predisposition to obesity, OSA and decreased chest wall compliance, kyphosis & foramen magnum stenosis.
- Lack of full ____________ for positioning
- Lots of redundant soft tissue (IV access)
- Abnormal spinal curvatures impair lung expansion – structural abnormalities may lead to V/Q mismatching
- Upper airway obstruction and hyptonia of airway musculature
- Compression of medulla and upper cervical cord because foramen magnum is constricted
- Absence of motion/articulation at _________ level
A
- average
- decreased limb length with rhizomelia,
- prominent forehead,
- flattened midface, and
- depressed nasal bridge.
- elbow extension
- atlantooccipital
2
Q
Andersen’s syndrome
- “Andersen-Tawil” or “______” syndrome.
- A triad of:
- Causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities.
- The most common changes affecting the heart are _____and_____ .
- Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to “re-charge” between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest
- Airway issues :
- Sever midface hypoplasia
* low-set ears
* widely spaced eyes - ___________
* Restrictive lung disease
* Decreased pulmonary function
A
- Long Q-T 7
- triad:
* potassium-sensitive periodic paralysis,
* ventricular dysrhythmias, and
* dysmorphic features. - ventricular arrhythmias and Long QT syndrome
- midface hypoplasia
- mandibular problems
- small lower jaw (micrognathia)
- dental abnormalities
- curving of the fingers or toes (clinodactyly).
- Kyphoscoliosis
3
Q
Angelman’s syndrome
- Deletion of chromosome 15q11-13 – example of an “_______ disorder”
- Characterized by:
- Most commonly diagnosed after the age of ______ when the characteristic behaviors become most evident
- Anesthetic considerations include using ______ or _______ to connect with patients; titration of paralytics with neuromuscular monitoring because of muscular atrophy; and, bradycardia (even asystole) secondary to vagal hypertonia
- Patients may be ______ susceptible to hypnotic and sedative effects of IV general anesthetics
A
- imprinting
- by:
- ataxia,
- hand flapping,
- seizure disorder,
- subtle dysmorphic features,
- mental retardation, and
- happy disposition with uncontrollable laughter - 2
- water or reflective surfaces
- less
4
Q
Apert’s syndrome
- Characteristics:
- Anticipate a potentially difficult airway
- Pre-operative cardiac evaluation
- Anesthetic techniques to lower ICP
A
Craniosynostosis
Hypoplastic midface
Cleft palate
Exophthalmos
Associated CHD
Elevated ICP
Psychomotor retardation
5
Q
Arnold Chiari Malformation
- Aspiration precautions
- Potentially a difficult airway
- Vocal cord paralysis
- Potential ventilation issues
- Latex precautions
- A congenital defect in the area of the back of the head where the brain and spinal cord connect.
- Symptoms:
A
- headaches;
- stiffness or pain in the neck or back of the head area;
- poor feeding and swallowing;
- decreased strength in the arms;
- decreased sensation in the arms and legs;
- rapid, back-and-forth eye movement;
- developmental delays;
- weak cry; and,
- breathing problems.
5
Q
A
6
Q
Arnold Chiari Malformation
Type I
Type II
Type III
Type IV
A
Type I: most common type of Chiari malformation. Commonly goes unnoticed until problems arise in the adolescent or adult years of life. In this condition, the base of the skull and the upper spinal area are not formed properly.
Type II: part of the back of the brain shifts downward through the bottom of the skull area. Type II is typically seen in infants who are born with spina bifida. Type II can also be associated with hydrocephalus.
Type III: the** back of the brain** protrudes out of an opening in the back of the skull area.
Type IV: the back of the brain fails to develop normally.
7
Q
Beckwith-Wiedemann syndrome
- 50% are born _______
- Weight > ______ gram
- Other symptoms:
- Potentially difficult airway
- Glucose issues
- Impaired renal drug excretion
- Pre-op cardiac evaluation
A
- prematurely
- 4000
- Macrosomia (LGA)
- Macroglossia
- Microcephaly
- Exophthalmos
- Omphalocele
- Medullary renal dysplasia
- Neonatal hypoglycemia
- Polycythemia
- Umbilical hernia
8
Q
Carpenter syndrome
- s/s:
- Potentially a difficult airway
- Preop cardiac evaluation
- Management of ICP
A
- Short neck
- Hypoplastic mandible
- Omphalocele
- Congenital heart defect (CHD)
- Premature closure of the cranial sutures
- Elevated ICP
- Psychomotor retardation
9
Q
Charcot-Marie-Tooth Disease
s/s
A
- Chronic peripheral neuropathy
- Distal muscle weakness and wasting
- Sympathetic nervous system impairment
- Difficult to control body temperature
- ANS hypersensitivity
- Impaired thermoregulation
- Potential post-operative respiratory dysfunction
- Sensitive to muscle relaxants
- Risk of hyperkalemia with Succinylcholine (SCh)
10
Q
CHARGE syndrome
C
H
A
R
G
E
A
- Coloboma (greek = “curtailed” or missing a structure [eyes])
- Heart defects
- Atresia choanae (nasal obstruction)
- Retardation Mental
- Genital hypoplasia
- Ear deformations (with or without hearing loss)
Choanal atresia (incomplete or complete) is acongenital disorderwhere the back of the nasal passage (choanae) is blocked, usually by abnormalbonyor soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development.
Cardiac work-up
11
Q
Crouzon Syndrome
A
- Wide skull
- Proptosis
- Maxillary hypoplasia
- Coronal suture synostosis
- Nystagmus, strabismus
- Cleft palate
- Elevated ICP
- Difficult airway
- Increased ICP
- Strabismus and MH
- Exophthalmos
12
Q
Dandy – Walker Syndrome
S/S:
A
- Hydrocephalus
- Associated CNS Malformations
- Meningomyelocele
- Developmental delay
- Microglossia
- Micrognathia
- ICP
- VP shunts
- Latex precautions
- Post-op laryngeal incompetence and vocal cord paralysis
13
Q
DiGeorge syndrome
- First described in the 1960’s
- Dr. DiGeorge observed the combination of a lack of the _________ (which is important for certain aspects of immunity) and a lack of _________ (which results in low calcium levels in the blood).
- A high percentage of children with DiGeorge syndrome have certain forms of:
- Chromosome _____ deletion
- Defect of 3rd& 4th brachial arches (i.e., primitive arteries, nerves & skeletal tissue)
- PTH deficiency leading to:
- +/- congenital heart defect
- Micrognathia
- Tracheomalacia
- Choanal atresia
A
- thymus gland; parathyroid glands
- congenital heart disease.
- 22q11
- hypocalcemia, tetany & cardiac failure
14
Q
Down Syndrome (Trisomy 21)
- Common features include brachycephaly, flat occiput, dysplastic ears, epicanthal folds, up slanting palpebral fissures, enlarged tongue, and midface hypoplasia
- Skeletal anomalies
- Visceral anomalies
- Respiratory problems
- Cardiac anomalies (40% )
Others:
Anesthetic considerations include:
* difficult airway management
* spinal cord compression secondary to occipito-atlantoaxial instability
* possible endocarditis prophylaxis
* ________ during induction
* difficult vascular access
* possible OSA
A
Microcephaly, macroglossia
Hypotonia
CHD
Duodenal atresia
Atlantoaxial instability
Congenital subglottic stenosis
OSA
Recurrent pulmonary infections
Difficult airway
Decreased CNS catecholamine stores
Exaggerated response to muscle relaxants
C-spine films
Cardiac workup
Prophylactic antibiotics
Anesthesia well tolerated
bradycardia
15
Q
Dwarfism - osteochondrodystrophies
s/s
A
- Odontoid hypoplasia/ atlantoaxial instability
- Micrognathia
- Cleft palate
- Tracheal stenosis
- Small chest cavity
- Kyphoscoliosis
- CHD
- Restrictive lung disease
- Preop C-spine & cardiac evaluation
- Potential difficult airway
- Pulmonary function
- Care in OR positioning
16
Q
Ehlers-Danlos
- 10+ types of ________ disorders due to abnormal production of ___________
- GI tract, uterus, and vasculature have ________ collagen
- Characterized by joint hypermobility, skin hyper-elasticity, bruising, scarring, muscular discomfort, gastrointestinal, uterus, and vascular complications
- _____________ and cardiac conduction abnormalities may be present
Anesthetic management includes evaluation of cardiovascular manifestations and caution with instrumentation of nose, airway, esophagus, vascular structures:
* Extravasation of fluids may go unnoticed because of skin laxity
* Must have low airway pressures during mechanical ventilation to decrease incidence of ___________.
* They have a propensity to _________ – be careful with arterial line, CVC line access, etc.
* Regional anesthesia is not recommended
A
- connective tissue, collagen.
- type III
- Mitral regurgitation
- pneumothorax
- bleed
17
Q
Fetal Alcohol Syndrome
S/S:
A
Growth restriction
Craniofacial abnormalities
Cardiac defects(VSD)
Renal abnormalities
Inguinal hernia
Intellectual impairment
+/- airway issues
+/- CHD
18
Q
Goldenhar syndrome
- Possible ____________ occurring during fetal development leading to defects of the first and second branchial arches
- Features include preauricular appendages, fistulas, epibulbar dermoids, vertebral anomalies, upper eyelid colobomas, ear anomalies, hearing loss, hemifacial microsomia, micrognathia, high arched palate, congenital heart disease, and renal abnormalities
*Anesthetic considerations include preparation for a difficult airway, difficult mask fit because of facial asymmetry.
- Studies have suggested getting preoperative radiographs of mandible to predict difficult of laryngoscopy. Absent ramus, condyle, and TMJ had high association with difficult intubation.
- Airway abnormalities can predispose to obstructive sleep apnea
- Airway
- Assessment of cardiac and cervical spine
- Prophylactic antibiotics
Abnormalities
A
- vascular accident
CHD
Eye & ear abnormalities
Renal abnormalities
Maxillary hypoplasia
Micrognathia
High arched palate
Vertebral fusion
Spina bifida
19
Q
Marfan syndrome
- Autosomal _____________ _____________ disorder characterized by tall stature, _______ span > height, high arched palate, pectus _________, and joint hyper extensibility.
- Early development of pulmonary emphysema, high incidence of spontaneous pneumothorax, ocular changes, and kyphoscoliosis.
- Preoperative evaluation should focus on cardiopulmonary abnormalities, especially echocardiography, avoidance of temporal mandibular joint dislocation, and avoidance of sustained increases in systolic blood pressure
- Defective connective tissue in aorta and heart valves can lead to aortic dilation, dissection, rupture/prolapse of cardiac valves.
- _________ is common.
- Cardiac conduction abnormalities (_________) is common.
- Cardiovascular abnormalities are responsible for premature death.
- C-spine evaluation is required
- Cardiovascular evaluation is required
- Care in positioning
- Increased potential for pneumothorax
- Avoid myocardial depressants yet avoid HTN
Problems
A
- dominant connective tissue, arm, excavatum
- Mitral regurgitation, bundle branch block
Atlantoaxial instability
Aortic aneurysm
Aortic valve insufficiency & MVP
Cystic medial disease leading to CAD
Kyphoscoliosis
Bullous emphysema
Lens subluxation
20
Q
Klippel-Feil syndrome
A
- Scoliosis
- CHD
- Sprengel deformity
- Congenital synostosis of cervical vertebrae
- Renal dysfunction
- VSD
- Care in neck manipulation for intubation
Impaired renal drug excretion
Assessment of CHD
Progressive airway obstruction
21
Q
Muscular Dystrophies
- Hereditary diseases characterized by atrophy and degeneration of skeletal muscles.
- ________ muscular dystrophy is the most common and most severe
- Include Duchenne’s limb-girdle, Facioscapulohumeral, Nemaline rod myopathy, and Oculopharyngeal dystrophy
- Duchenne’s is the most common and most severe –____________.
A
- Duchenne’s
- X-linked recessive
22
Q
Muscular Dystrophies
- Fascioscapulohumeral muscular dystrophy – no ______ involvement
- ________ Muscular dystrophy – delayed motor development, hypotonia, intelligence is normal, dysmorphic features, micrognathia, kyphoscoliosis and pectus - -> restrictive lung disease, dilated cardiomyopathy, possible difficult intubation. MH not reported in these individuals
A
- cardiac
- Nemaline Rod
23
Q
Muscular Dystrophies
- Initial symptoms include waddling gait, frequent falling, difficulty climbing
- ___________ of affected muscles
- Degeneration of cardiac muscle, possible _________ due to papillary muscle dysfunction with diminished contractility
- Chronic weakness of respiratory muscles, decreased ability to cough, and kyphoscoliosis predisposes to URIs, restrictive lung disease, possible pulmonary hypertension
- Kyphoscoliosis and mental retardation is often present
- Patients may benefit from regional anesthesia to avoid general
Anesthetic considerations include:
* Contraindication of succinylcholine
* availability of MH cart/dantrolene for Duchenne’s patients-(mimics MH)
* postoperative need for chest physiotherapy
Hypomotility of GI tract, delayed gastric emptying, & weak laryngeal reflexes increase risk of aspiration
Risk of rhabdomyolysis, hyperkalemic cardiac arrest or ventricular fibrillation.
A
- Fatty infiltration
- Mitral regurgitation
24
# Noonan syndrome
* Patients may have a short, webbed neck, hypertelorism, ptosis, flat nasal bridge, posteriorly rotated ears, short stature with thin limbs, congenital heart disease, mental retardation, hepatosplenomegaly, scoliosis, renal abnormalities
* Anesthetic considerations include difficult intubation, difficult IV access, decreased FRC, possible bleeding diathesis, or altered metabolism of drugs
* Relationship between Noonan syndrome and malignant hyperthermia remains unclear
* Congenital heart disease may include: ____ and _____.
* Short of webbed neck, micrognathia, and dental malocclusion may make intubation difficult but it becomes _____ with age
* Difficult IV access secondary to _______
* Chest deformities may lead to decreased FRC, restrictive lung disease
* Altered metabolism from renal dysfunction
* Reports of patients with Noonans who develop MH – but may have been ascribed to certain myopathies they may also have such as King-Denborough syndrome
## Footnote
Problems:
* Pulmonary stenosis (80%) and hypertrophic obstructive cardiomyopathy (30%)
* less
* subcutaneous edema
## Footnote
Shield –shaped chest, short stature, kyphoscoliosis
Webbed neck
Micrognathia
Renal function
Hypoplastic kidneys
Mild retardation
Platelet dysfunction
Airway
CHD, ASD,PS
Hypertrophic Cardiomyopathy
C-spine x-ray to exclude atlantoaxial instability
Aortic coarctation
Dissecting aortic aneurysm
25
# Neurofibromatosis von Recklinghausen syndrome
S/S
* CNS neurofibromas
* Café-au-lait spots
* incidence of pheochromocytoma
* Kyphoscoliosis
* Honeycomb cystic lung changes
* Renal artery dysplasia & HTN
* Tumors may involve larynx
* Prolonged paralysis with NDMR
* Difficult airway especially if tumor
* Preoperative screening for Pheo
* Renal function
* Lung function
26
# Osteogenesis Imperfecta
* Defect in synthesis of collagen & associated dysfunction of ________.
* Classic Triad:
* Bleeding diathesis
* Kyphoscoliosis
* Cardiac anomalies
* Increased metabolic rate & hyperpyrexia
* Small mandible, midface hypoplasia, short limbs & trunk
* Rare, ____________ inherited, disease of connective tissue that affects bones, sclera, and the inner ear
* Incidence higher in _______. Very smart individuals. Intellect intact.
* Classic presentation include blue sclera, fractures after minor trauma, kyphoscoliosis, bowing of femur and tibia, gradual deafness, impaired platelet function, and increased serum thyroxine in at least 50% of patients
* Kyphoscoliosis and pectus may decrease vital capacity and chest wall compliance leading to arterial hypoxemia and V/Q mismatching
* ____________ may be hazardous since inflation can cause fractures
* They presented with a prolonged bleeding time despite normal platelet count. _________ may be effect in normalizing platelet function. Patients may have mild hyperthermia.
* platelet aggregation
* Blue sclera, multiple fractures, & deafness
* autosomal dominant
* females
* Automated BP cuffs
* Desmopressin
27
# Osteogenesis Imperfecta
* Management of anesthesia include cervical spine evaluation with care during tracheal intubation, avoidance of _______, careful positioning, PFTs if severe kyphoscoliosis and pectus excavatum, consider NIBP vs arterial line monitoring, coagulation checks, and intraoperative temperature monitoring
Two forms of OI
* ________ occurs in utero and death often in perinatal period.
* ________ manifests during childhood
*
May have decreased range of motion – tracheal intubation needs to have little manipulation and trauma. Glidescope is prudent if exam may reveal it will be difficult to visualize the glottic opening during direct laryngoscopy.
Succinylcholine-induced fasciculations may produce fractures.
## Footnote
* Careful positioning/padding
* Airway issues
* Hyperpyrexia & MH confusion
* Tourniquets & blood pressure cuffs may cause fractures
* Restrictive lung disease
* Atropine with caution – exacerbate hyperpyrexia
* Severe metabolic acidosis may occur under anesthesia
* IV access/stability fragile vessels
* succinylcholine
* congenita
* Tarda
28
# Pierre-Robin syndrome
* PRS may occur in isolation but it is often part of an underlying syndrome, most common ______ syndrome.
* Stickler syndrome is a group of hereditary conditions characterized by distinctive facial features, eye abnormalities, hearing loss, and joint abnormalities.
* Not known how this abnormality occurs in infants. Usually occurs in utero around 14 weeks gestation during stage of formation of bones of fetus – fixed fetal position that inhibits ______ growth
* May have swallowing difficulties from abnormalities in _________ dysfunction
* Characterized by micrognathia, cleft palate, and glossoptosis
* Neonates may also present with obstructive apnea, hypoxia from airway obstruction, cor pulmonale, feeding difficulties
* Main anesthetic concern is ______
* Neonates may require prone positioning, a nasopharyngeal airway, suturing tongue to the lip, or even a tracheostomy to preserve an airway
## Footnote
Problems:
* stickler
* mandibular
* brainstem
* difficult airway
## Footnote
Micrognathia
Glossoptosis
Cleft palate
CHD
Chronic upper airway obstruction may cause hypoventilation, pulmonary HTN, & cor pulmonale
Difficult airway
Cardiac evaluation
In supine position the tongue may cause total airway occlusion
29
# Prader Willi syndrome
* Deletion in _________
* Proposed __________ mode of inheritance
* Manifests as _________ at birth but progresses to __________ and obsesity with endocrine abnormalities between 1-6 years of age
* Patients have a short stature and mental retardation is severe
* __________ are common and are related to chronic regurgitation of gastric contents
* Birth – may have weak cough, feeding and swallowing difficulties, and upper airway obstruction
* They may have __________, but usually does not have cardiac dysfunction
* Hypotonia may result in weak skeletal musculature with poor cough – so predisposed to pneumonia and perioperative aspiration pneumonitis
* They may be micrognathic with high arched palate which may make them a difficult mask or intubation along with obesity. They also may have scoliosis, congenital dislocation of hip.
* Sleep apnea in PWS is both peripheral and central mechanisms
## Footnote
Anesthetic considerations focus on hypotonia and altered metabolism of carbohydrates and fats, possible difficult mask ventilation and intubation, IV access, thermoregulation, sleep apnea, and evaluation for cor pulmonale.
Intraop monitoring of glucose is necessary and they may actually need exogenous glucose administrations because these patients use circulating glucose to make fat instead of meet basal energy needs Endocrine abnormalities include hypogonadism and DM. They hide their food.
* chromosome 15
* autosomal recessive
* hypotonia; hyperphagia
* Dental caries
* seizures
30
# Turner’s syndrome
* 45X karyotype with features of a short webbed neck, broad shield like chest, maxillary and mandibular hypoplasia, shorter trachea length, possible coarctation of aorta or bicuspid aortic valve, ovarian failure
* Preoperative considerations include difficult airway, thorough cardiac evaluation, and optimization of medical comorbities
* ___________ may be a possibility
* Intelligence may be normal or slightly diminished.
* May have strabismus, ptosis
* Systemic manifestations include cardiac defects, HTN, HLD, renal anomalies, liver disease, IBD, & endocrinologic problems
* Aortic dissection
31
# Treacher Collins syndrome
S/S:
Facial & pharyngeal hypoplasia, aplastic zygomatic arches
Micrognathia
Microstomia
Choanal atresia
CHD
Marked narrowing of airway above larynx
Extreme difficult intubation
Cardiac problems
32
# Xeroderma pigmentosum (XP)
* Characterized by keratosis, telangiectasia, hyperpigmentation, and neoplasia in areas exposed to sunlight
* Often referred to as “___________”
* ___________ genetic disorder of DNA repair, hypersensitivity to UV radiation, and progressive neurologic complications
* _______ abnormalities are found in 18% of XP patients (mental retardation, spasticity, ataxia, microcephaly, and peripheral neuropathy)
* Little information on optimal anesthetic management but there are suggestions to avoid UV and artificial light exposure in operating room, wear protective clothing, UV absorbing eye glasses
* General anesthesia with TIVA technique or regional technique is recommended because volatile agents can cause ______ effects and nitrous oxide can cause ________.
* children of the night
* Autosomal recessive
* Neurological
* genotoxic; myelosuppression
