m. concetta lupa m.d. assistant professor of anesthesiology and pediatrics UNC Syndromes when being unique can be scary

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1 + m. concetta lupa m.d. assistant professor of anesthesiology and pediatrics UNC Syndromes when being unique can be scary

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6 + What syndrome do all of these children have in common? 1) Down Syndrome 2) Noonan Syndrome 3) Beckwith- Wiedemann Syndrome 4) Kabuki Syndrome

7 + Down Syndrome (aka Trisomy 21) Epicanthal folds with up-slanting of palpebral fissures Brushfield spots on iris Single palmar crease Wide space between 1 st and 2nd toes Short 5th finger Small ears, Flat occiput Relative macroglossia Short-broad neck

8 + Down Syndrome Obstructive Sleep Apnea Smaller glottis Frequent Congenital Heart Dz Endocardial cushion defects, PDA, TOF Hypothyroidism Immune deficiency/ Increased Risk ALL

9 + Anesthetic Considerations CV/Resp history and physical Potential for Pulm HTN Consider ECHO Airway assessment Smaller ETT; increased risk stridor Careful positioning/neck movement - Atlantoaxial instability Bradycardia on induction Careful post op monitoring

+ Should you get a preop cervical Xray to rule

screening tools o Good history and physical

10 + Should you get a preop cervical Xray to rule out cervical instability? ogeneralized ligamentous laxity o Complications are low, plain films are poor screening tools o Good history and physical should be sufficient in asymptomatic patients Hata T. Anesthesiology 2005; 102:680 5

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12 These children will all likely undergo which surgical procedure in their childhood? + 1) Inguinal hernia repair 2) Repair of choanal atresia 3) Cranial vault reconstruction 4) Cochlear implantation

13 Acrocephalosyndactyly Syndromes + Type I: Apert Syndrome Type II: Crouzon Syndrome Type III: Saethre-Chotzen Syndrome Type IV: Pfieffer Syndrome

14 + Acrocephalosyndactyly Syndromes Syndromic Craniosynostosis Dysmorphic facial features +/- Severe Syndactyly of hands and feet Autosomal dominant inheritance Increased paternal age a risk factor

15 + Anesthetic Considerations Prone to high ICP, progressive hydrocephalus, chronic tonsillar herniation Difficult Airways Midface hypoplasia, fused cervical spine, mandibular ankylosis +/- Developmental Delays Congenital Heart Dz not uncommon Proptotic Eyes/ Positioning Usually risky surgery in risky population

16 + 4 year old presents for cochlear implant. History of ASD, eye problems, difficulty feeding, developmental delay. What is her diagnosis? 1)Hunter s Syndrome 2)VACTERL Syndrome 3)Pierre Robin Sequence 4)CHARGE Syndrome 5)Goldenhar Syndrome

17 + CHARGE Syndrome C Coloboma of the eye H Heart defects A Atresia of choanae R Retardation of growth/development G Genital abnormalities E - Ear abnormalities and deafness Incidence: 1:13,000 to 15,000 live births

(70-90%) - resulting in decreased sense of smell, facial palsy,

18 + Major features of CHARGE Coloboma of Eye (80-90%) Choanal atresia or stenosis (50%) Cranial Nerve abnormalities I (90-100%) VII (40%) IX/X (70-90%) - resulting in decreased sense of smell, facial palsy, aspiration and difficulty swallowing CHARGE Outer, Middle, or Inner ear defects

19 + Minor Features of CHARGE Heart defects (up to 75%) Cleft lip/palate (20%) TEF (15-20%) Kidney Abnormalities (40%) Behavior issues (OCD) (>50%) Genital abnormalities: Males: small penis, undescended testes (50%) Females: small labia, small or missing uterus (25%) Both: lack of puberty without hormone intervention (90%) Typical CHARGE face

20 + CHARGE Anesthetic Implications Renal function Cardiac history/ anatomy Prolonged post op vent Limited cooperation Potential difficult airway May need smaller ETT Know each child s specific CHARGE features and tailor a plan

21 + Name that Syndrome: 1) Goldenhar 2) Pierre Robin 3) Treacher Collins

22 + Name that Syndrome: 1) Goldenhar 2) Pierre Robin 3) Treacher Collins

23 + Name that Syndrome 1) Goldenhar 2) Pierre Robin 3) Treacher Collins

24 + The trifecta Difficult Airway Difficult Airway Difficult Airway! GOLDENHAR TREACHER COLLINS PIERRE ROBIN Oh, and potentially congenital cardiac disease, too.

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26 + You are presented with a 2 day old with tracheoesophogeal fistula. Which of the following tests is MOST important before proceeding to the operating room? 1) Head Ultrasound 2) Echocardiogram 3) Hemoglobin 4) Coagulation panel

27 + VACTERL Vertebral Anomalies Anal Atresia Cardiac Defects Tracheo-Esophageal Fistula Renal abnormalities Limb abnormalities

28 + Anesthetic Implications Vascular/arterial access may be challenging (limb deformities) Vertebral anomalies may limit regional anesthesia Strict fluid regimen (renal) Rule out/ consider cardiac disease Micrognathia, laryngeal stenosis Consider emergent nature of procedure

$+ 5 year old with presents for femur fracture. Name that syndrome.$

29 + 5 year old with presents for femur fracture. Name that syndrome. 1) Epidermolysis Bullosa 2) Osteogenesis Imperfecta 3) Moebius Syndrome 4) Ehlers-Danlos Syndrome

30 + Osteogenesis Imperfecta Brittle Bones Syndrome Defective or insufficient collagen tissue Eight types, some lethal Hearing loss Possible respiratory problems Scoliosis All bones can be affected

31 + Anesthetic Implications Careful positioning Blood pressure measurement Consider avoiding succinylcholine due to fasciculations Potential difficult airway due to dentition and flattened vertebrae May be difficult to achieve regional anesthesia Cardiac function can be impaired in type II Elevated thyroid function can occur in type I

32 + You are informed that your next patient is a 4 year old girl with Williams syndrome who needs an umbilical hernia repair. What is your plan? 1) Look for the emergency airway cart 2) Look for the Malignant Hyperthermia Cart 3) Review cardiac records 4) Come down with a sudden 24 hour GI bug and go home.

+ Williams Syndrome Elfin facies Infantile hypercalcemia Cardiac defect (most commonly supravalvular aortic stenosis) Developmental delay or

33 + Williams Syndrome Elfin facies Infantile hypercalcemia Cardiac defect (most commonly supravalvular aortic stenosis) Developmental delay or autistic-like features Cocktail personality Hypotonia during childhood Progressive joint limitation as patients age Increased risk of coronary narrowing with age

34 + Anesthetic implications Younger patients more common to have hypercalcemia Patients prone to sudden cardiac death, especially with increased oxygen demand- gentle induction EKG, ECHO, exercise tolerance evaluation Possible difficult airway

35 + Name that syndrome Clue: Also known as Turner like syndrome 1)Gaucher Disease 2)Noonan Syndrome 3)Goldenhar Syndrome

36 + Noonan Syndrome what you need to know Hypotonia, poor feeding Webbed neck, short stature High arched palate 25% mental retardation Kyphoscoliosis Cardiac anomolies (50%) Pulmonary stenosis, hypertrophic cardiomyopathy, TOF Frequent coagulopathy

37 + This 5 year old comes to you for dental work. Name that syndrome. 1) Ehlers Dahnlos 2) Osteogenesis Imperfecta 3) Scalded Skin syndrome 4) Epidermolysis Bullosa

38 + Epidermolysis Bullosa Varied incidence 3 major types: Junctional Epidermolysis Bullosa (JEB) Most severe form Epidermolysis Bullosa Simplex (EBS) Dystrophic Epidermolysis Bullosa (DEB) Skin separation occurring in lamina lucida

39 + Anesthetic Considerations Grease surfaces Avoid shearing forces No stickies! Parental presence helpful Potential difficult IV access Potential difficult airway Review old records

40 Which of the following is not linked to malignant hyperthermia? 1) Duchenne s Muscular Dystrophy + 2)Central Core Disease 3) Evan s Myopathy 4) King Denborough Syndrome

41 + Syndromes associated with Malignant Hyperthermia Central Core Disease Multi-minicore disease King Denborough Syndrome (Children look like Noonan s in infancy) Evan s Myopathy There is such a thing as coincidence.

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43 + What s the S stand for? It stands for... sitter! Yeah, sitter. I was originally going to have the initials for babysitter but then I'd be going around with a big BS and you can understand why I couldn't do that.

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Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions

Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions - Case (1): sunset eye appearance which occurs with increased intracranial pressure