Pediatric Conditions

• These are study notes for various pediatric neurodevelopmental and genetic disorders, and skin conditions.

Cerebral Palsy (CP)

• CP involves non-progressive neurological disorders due to upper motor neuron damage.
• Brain damage before, during, or shortly after birth from infection, stroke, hypoxia, head injury, or premature birth are the causes.
• Symptoms include lack of coordination, balance, contractures, speech defects, intellectual or visual/hearing impairments.
• Types of CP include spastic (most common, cerebral cortex damage), dyskinetic (basal ganglia damage), ataxic (cerebellum damage), hypotonic, and mixed.
• Spasticity causes muscle contraction and relaxation issues, due to abnormal signals.
• Orthopedic procedures manage CP such as osteotomy, tendon lengthening/release/transfer, muscle lengthening, spinal fusion, arthrodesis, and hip surgeries.
• Neurosurgical procedures include selective dorsal rhizotomy (SDR), intrathecal baclofen pump, and deep brain stimulation (DBS).
• Other procedures address GI, hearing, and vision issues.
• SDR cuts spinal nerve roots to reduce spasticity, improving movement.
• Adults with CP experience premature aging, increasing stroke risk in their 20s-40s.
• Other issues include walking/swallowing disorders, loss of walking ability in 25%, and post-impairment syndrome.
• Post-impairment syndrome involves weakness, overuse syndromes, arthritis, increased pain/fatigue, and repetitive strain injuries.
• Anesthetic considerations for children with CP include detailed H&P, developmental delays, and comorbidities.
• Comorbidities may include GE reflux, chronic aspiration, pulmonary conditions, OSA/central sleep apnea, epilepsy, and immobility/contractures.
• Common anesthetic issues involve temperature control, positioning challenges, pain control, respiratory concerns, bleeding, and medication dosing variability.
• Induction can be regular or RSI.
• Patients may have increased sensitivity to depolarizing NMBs but are resistant to NDNMB.
• Maintenance requires warming to avoid hypothermia.
• MAC may be lower due to reduced cortical activity from neuronal loss.
• Chronic antiepileptic usage increases MAC requirements, but the net effect is typically a reduction.
• Aspiration risk necessitates an OG tube.
• Post-op concerns include delayed emergence and pain management.

Muscular Dystrophy (MD)

• MD is a group of progressive muscle disorders from genetic defects affecting muscle function.
• It causes irreversible skeletal muscle wasting due to lack of dystrophin.
• It almost exclusively affects males via the X chromosome, with symptoms appearing in early childhood (2-6 yrs).
• Duchenne’s dystrophy aka pseudohypertrophic muscular dystrophy is the most common form.
• Muscle atrophy is preceded by pseudohypertrophy of calf muscles.
• Early stages show elevated CPK, SGOT, LDH, SGPT, and aldolase, which then decrease as atrophy progresses; wheelchair bound →early teens death.
• Death occurs in the late 20’s.
• Positive Gower sign indicates severe weakness.
• Cardiac issues include cardiomyopathy, cardiac fibrosis, arrhythmias (tachycardia, heart block), conduction problems, and heart failure.
• ECG is abnormal in 90% of patients.
• Cardiac arrest risk is increased by hyperkalemia and rhabdomyolysis.
• Respiratory muscle weakness leads to easy fatigue and increased risk of respiratory infections.
• Respiratory complications cause ~90% of deaths.
• Smooth muscle disease leads to poor esophageal motility, reflux, delayed gastric emptying, and increased aspiration risk.
• Anesthetic considerations include complete H&P, routine monitors (+/- Aline, CVP), cautious use of opioids, benzos, and NDNMBDs.
• Avoid succinylcholine.
• Intubation should be RSI or modified RSI.
• Maintenance involves "light levels" of GA, opioids, inhalational agents, and NDMR.
• Anticipate cardiac and respiratory problems.
• OGT is necessary for GE problems.
• Emergence/post-op care involves considering extubation or continued ventilation and cautious use of pain medication.

Juvenile Rheumatoid Arthritis (JRA)

• Initial symptoms include fever for weeks, rash, and joint pain.
• Anesthetic concerns include TMJ ankylosing and cricoarytenoid arthritis.

Neurodevelopmental Disorders

• For autism, use a calm, reassuring tone.
• Most agents and medications can be used.
• Prader-Willi syndrome is a genetic disorder from loss of genes on chromosome 15.
• Patients have very low levels of sex and growth hormones.
• Lack of satiety causes overeating and overdrinking.
• Symptoms include weak muscles, poor feeding, physical defects, and delayed development.
• Other symptoms include sleep disturbance/apnea, hypo-pigmentation, short stature, dental problems, skin picking, and behavioral issues.
• Complications include Type 2 diabetes, intellectual defects, and infertility.
• Anesthetic considerations include careful use of non-depolarizing NMBDs, ensuring full reversal prior to extubation due to hypotonia.
• Steroid supplementation is not necessary.
• Careful use of opioids is needed due to OSA and obesity leading to airway obstruction.
• Patients may have unusual reactions to standard doses of anesthetic medications.
• Water intoxication is possible due to incessant drinking so use IVF carefully.
• Patients may have a high pain threshold and lack typical pain signals.
• They have respiratory concerns, a lack of vomiting, and body temperature abnormalities.
• Skin lesions may be present from picking due to lack of impulse control.

Skin Disorders

• Epidermolysis bullosa (EB) is an inherited skin disorder causing extreme fragility and blistering.
• Three types include EB simplex, junctional EB, and dystrophic EB.
  • Simplex EB is the mildest form, with blisters that heal without scarring.
  • Junctional EB is severe, with blisters forming at the junction between the epidermis and dermis.
  • Dystrophic EB involves blisters forming within the dermis, often causing scarring.
• Blisters can occur anywhere (e.g., mouth), causing scarring that leads to limited mouth opening and fusion of fingers/toes.
• Indications for surgery in EB patients include plastic procedures, esophageal dilation, PEG/open gastrostomy, GI endoscopy, dental restorations.
• Anesthetic considerations for positioning: shearing forces cause bullae, compressive forces are tolerated, lie on sheepskin, use generous padding, wrap skin with soft cotton.
• Avoid all adhesives.
• For monitoring, use routine monitors.
• BP: wrap limb with Webril.
• Oximetry.
• Temperature: use lubricated axillary probe.
• Invasive monitors: arterial line for longer cases, CVP line if needed.
• Anything placed in the mouth must be well lubricated with a water-based emollient.
• Do not use Lidocaine jelly or ointment.
• For induction, premedication may need larger dosage with IV induction preferred.
• Secure IV with Koban and wrap extremity with Webril.
• Inhalation induction requires a lubricated mask with gentle pressure.
• IM induction with ketamine is possible.
• LMA can be used but has the potential for mucosal damage.
• For DL, lubricate laryngoscope with KY jelly or Lubifax.
• Fiberoptic intubation may be less traumatic and a first choice in limited mouth opening

Sequence, Syndromes, and Associations

• Sequence refers to a cascade of secondary defects arising from one primary defect.
• Example: Pierre Robin sequence involves micrognathia leading to glossoptosis, airway obstruction, and cleft palate.
• Syndrome refers to when a well defined pattern of anomalies occur together due to a single known cause.
• Associations refers to a non-random pattern of birth defects that tend to occur together more often than by chance, but without a single known genetic or environmental cause.
• Example: VACTERL association with no identified unifying genetic cause.
• William’s syndrome is a gene deletion syndrome affecting males and females equally.
• It is characterized by developmental delays, cardiovascular problems, learning disabilities, endearing personality, sensitive hearing, attention deficit disorder, anxiety, phobias, and an elfin face.
• Patients are prone to hypercalcemia and hyperthyroidism.
• Younger children have low muscle tone and joint laxity, while older children have joint stiffness with contractures.
• Renal manifestations include renal artery stenosis renovascularhypertension, reduced function, and hypercalcemia-induced kidney stones.
• There is an increased incidence of inguinal and umbilical hernia/
• Supravalvular aortic stenosis results in SOB, chest pain, heart failure, and death.
• Down syndrome includes trisomy 21, with an increased risk for congenital heart defects.
• Airway management issues include enlarged tongue, atlanto-occipital instability/subluxation, hypotonia, sleep apnea, subglottic stenosis, short neck, mandibular hypoplasia, and OSA.
• It has an increased risk of post-intubation stridor and laryngospasm.
• 50% have congenital heart defects.
• Use IV filters if heart defects are not corrected
• Defects include PDA, CoA, TOF, AVSD.
• Hypotonia requires less muscle relaxant.
• Sensitivity to atropine, significant bradycardia with Sevoflurane.
• DiGeorge syndrome (Chromosome 22q11.2 deletion syndrome, Catch 22 Syndrome): defect in chromosome 22.
• Hypoparathyroidism and hypocalcemia occur.
• Hypocalcemia issues include prolonged QT, hyperventilation, albumin administration, and citrated blood products.
• Hypoplastic or absent thymus leads to immune problems.
• Other features include conotruncal heart defects, cleft lip/palate, small mouth/chin/nose tip, and asymmetric crying face.
• Patau syndrome (trisomy 13) involves an extra chromosome 13.
• Most cases are not inherited but due to a defect.
• Symptoms include cleft lip/palate, clenched hands, close set eyes, decreased muscle tone, extra fingers/toes, hernias, coloboma, low set ears, severe mental retardation, scalp defects, microcephaly, and micrognathia.
• More than 80% of children die within the first month of life.
• May have a single umbilical artery at birth.
• CHD- ASD, VSD, PDA, Dextrocardia
• GI- Rotation of the internal organs
• Holoprosencephaly (joining together of the 2 sides of the brain) may occur.
• Edwards syndrome involves a third copy of genetic material from chromosome 18.
• It is 3x more common in girls than boys.
• Features include clenched hands, crossed legs, rocker bottom feet, low birth weight, low set ears, mental deficiency, and microcephaly.
• CHD = ASD, PDA, VSD
• 50% of infants survive past the first week of life.
• Kidney problems, coloboma, and pectus carinatum may be present.
• Alagille syndrome (JAG 1 mutation) can be inherited or from a genetic mutation.
• Absent deep tendon reflexes.
• CV issues include PV stenosis and PA stenosis.
• There is a posterior embryotoxon (corneal opacity) and butterfly vertebrae.
• Liver damage includes narrowed, malformed, and reduced bile ducts.
• Neonatal jaundice, itchy skin, and xanthomas are common features.
• CHARGE syndrome (CHD 7 gene mutation) follows the acronym CHARGE: coloboma, cranial nerve dysfunction, heart defects, atresia of choanae, retardation in growth/mentation, genital abnormalities, ear malformation/hearing loss.
• 4 of 6 need to be present for diagnosis.
• Cri du chat syndrome involves a missing part of chromosome 5.
• There is hypotonia in infancy and a high-pitched, cat-like cry.
• Airway abnormalities include a small floppy epiglottis, laryngeal hypoplasia/laryngomalacia, narrow/diamond-shaped larynx, and abnormal airspace posteriorly during phonation.
• Morbidity and mortality decrease after the first few years of life (75% deaths in first month, 90% during year 1).
• Beckwidth syndrome involves a chromosome 11 abnormality.
• There are large tongue, large body parts, and hemihyperplasia.
• Large body size, taller than average.
• Patients are prone to hypoglycemia and increased risk of childhood tumors.
• Hepatoblastoma.
• Abdominal wall abnormalities such as umbilical hernia or omphalocele (abdominal contents protrude through belly button) may occur.
• VACTERL association: VSD is the most common cardiac abnormality.
• VACTERL is the acronym that describes symptoms: vertebral defect, anal atresia, congenital heart defect, tracheoesophageal fistula, renal anomalies, limb (radial) hypoplasia, +/- single umbilical artery.
• Need 3 or more features to diagnose.
• There is normal level of intelligence.
• Big tongue syndromes include Beckwidth and Trisomy 21.
• Syndromes with small underdeveloped mandibles use the acronym “Please get that chin”: Pierre robin, Goldenhar, treacher collins, cri du chat.
• Syndromes with cervical spine anomalies use the acronym “kids try gold”: Klippel feil syndrome, trisomy 21, Goldenhar.