Final Study - Pediatric Boards Flashcards

Question

Common in Type I DM and selective IgA deficiency Increased risk in Down Syndrome abdominal pain, diarrhea, poor growth and consider with issues with dental enamel; patients are usually iron deficient What are the biopsy findings?

Answer 1

Celiac Disease Biopsy findings - Type 1: intraepithelial lymphocytes - Type 2: intraepithelial lymphocytes and crypt hyperplasia - Type 3: intraepithelial lymphocytes, crypt hyperplasia, and villous atrophy

Answer 2

Ileum: B12 - differentiate from folate deficiency because B 12 def has neurologic symptoms Jejunum: folate Duodenum: Iron

Answer 3

Breath hydrogen test - when carbs are malabsorbed, bacteria in the colon produce hydrogen gas which is then absorbed in the colon into the bloodstream and transported to the lungs - If hydrogen rises > 10-20 ppm then carbs are not being properly absorbed

Answer 4

Direct assay from mucosal biopsy

Answer 5

Meckel's Diverticulum

Answer 6

Duodenal Atresia Trisomy 21 can also have asymptomatic transient leukemia except for vesicopustular skin lesions which contain cells similar to blasts; self-resolves after 3 months blasts in marrow < blasts in blood Dont forget about Brushfield spots

Answer 7

Intussusception

Answer 8

Malrotation - most common malrotation is nonrotation which presents with the cecum to the left and the small intestine to the right of the SMA

Answer 9

Helicobacter pylori - short period of increased acid secretion followed by marked decrease in acid production - acute symptoms last about a week

Answer 10

Pyloric stenosis - Low Cl alkalosis - Low K (correct before surgery) - more common in boys - between 3 weeks and 2 months of age

Answer 11

Observe for up to 24 hours if child is asymptomatic

Answer 12

12-24 hours after ingestion | Prior to this may not show extent of injury and after 24 hours increases risk of perforation

Answer 13

Esophageal Atresia with Distal Tracheoesophageal Fistula - infant presents with excessive oral secretions in the delivery room and chokes when feeding - diagnose by placing NG tube

Answer 14

Ask about family history of migraines - cyproheptadine - amytriptiline if > 5 years old

Answer 15

Marasmus | - generalized loss of muscle and no subcutaneous fat

Answer 16

Kwashiokar - appears in children during the weaning or post-weaning process - the rash looks like flaky paint (sharp borders that peel easily)

Answer 17

Vitamin C (ascorbic acid) deficiency - Scurvy - can help increase Iron absorption - most cases occur between 6 months and 2 years of age - impairs the formation of collagen --> fragile capillaries and gingival hemorrhage - impaired formation of chondroitin sulfate --> brittle and easily fracturing bones - ground glass opacities on XRay Tox --> stones, cramps

Answer 18

Vitamin A deficiency Tox: pseudotumor and HSM and turning orange like carrots, a very high dose is a teratogen which is why we check pregnancy tests before giving accutane

Answer 19

Vitamin E - deficiency can also result in hemolytic anemia in premature infants because if increased radicals hemolyzing cells and enhanced fragility of RBCs

Answer 20

Folate - Also seen in chronic alcohol use; presents as jaundice, pallor, fatigue, apthous ulcers Methotrexate can impair folate absorption - Hypersegmented neutrophils on peripheral smear with multiple lobes

Answer 21

Thiamine (B1) Deficiency

Answer 22

Wernicke Encephalopathy

Answer 23

Riboflavin (B2) Deficiency

Answer 24

Niacin (B3) deficiency Tox: increased LFTs, tingling, itching

Answer 25

Preterm infants: 1 month of age until 12 months Term: 4-6 months of age (iron stores are depleted by 4 months of age so start supplementing at this time) Cow's milk has forms of iron that have decreased bioavailability and iron content is low (breastmilk has more) Takes 7 days for retic to normalize with iron therapy, 2-3 weeks for Hgb, and 3 months for ferritin

Answer 26

Soy Formula (or hypoallergenic formulas) - AR - galactose-1 phosphate uridyl transferase is deficient - lactose (main carb found in cow's milk based formulas) is composed of glucose + galactose - Do not give soy formula to preterm infants

Answer 27

Vitamin D is low in breastmilk (start supplementing with 400 IU/day within a few days of birth) 1-12 years: 3-6000 IU/day for 90 days >12 years: 6000 IU/day for 90 days Follow up required to measure 25-OH Vitamin D levels, Calcium, and Phos Toxicity leads to increased calcium Calcium is absorbed by the gut, stored in bone, and excreted by the kidneys Ca is increased with PTH and 1,25-Vit D Vitamin D increases Ca and Phos absorption from the gut and increases calcium resorption from the bone if the calcium level is low PTH increases Calcium resorption but decreases phos resorption

Answer 28

B12, Iron, Calcium, and Zinc (can be seen when sttarting cow's milk)

Answer 29

Conduct iron studies first (high ferritin and high transferrin/hepcidin levels; ferritin is an acute phase reactant); 90% have a mutation in the HFE gene Decreased iron absorption

Answer 30

Dermatitis Herpetiformis symmetrically distributed papular-vesicular eruptions Cause post-inflammatory hyperpigmentation IgA deposition in the sub epidermal membrane

Answer 31

Primary Sclerosing Cholangitis

Answer 32

IgM Antibody in serum 5-10 days Stay at home for a week to avoid viral shedding No need for boosters cause the vaccine is awesome Can present as tender hepatomegaly

Answer 33

jejunal or ileal atresia

Answer 34

No salicylates for 6 weeks to avoid Reye Syndrome

Answer 35

Oral Vancomycin Children less than age 5 are usually asymptomatically colonized so fo not need to test or treat

Answer 36

Calcium channel blockers But this can result in tachyphylaxis

Answer 37

Herpes Esophagitis - in immunocompetent patients, it is usually reactivation vs primary disease

Answer 38

Perform Anti-HCV antibody testing at 18 months of age - do not test before 18 months because IgG antibody can be identified because it is passively acquired via the mother - Early detection of disease in infants at risk of Hep C should be performed at 1-2 months of age - test for nucleic acid amplification of HCV RNA; if still ill by age 3 then patient will likely remain chronically infected

Answer 39

increase glucose —> increase insulin —> more K going into the cells —> ST depression/U wave formation/T wave inversion

Answer 40

risk for GERD, growth failure, and pulmonary HTN; those who had a patch repair are at risk for repeat herniation

Answer 41

Presents between age 2-10 Peak age 3-4 If lesion is solitary with no adenomatous component, there is no risk of cancer Children with 5 or more juvenile polyps or any number of adenomatous intestinal polyps should be referred for genetic testing because they are at increased risk of malignancy If less than 5 juvenile polyps are seen, the diagnosis is likely simple juvenile polyps and follow up colonoscopy is not needed

Answer 42

Mom’s with Hep B surface Ag positive (THEY CAN STILL BREASTFEED) The presence of HBeAg is used to identify infected individuals who are at increased risk of transmitting HBV infants get Hep B IG AND Hep B vaccine within 12 hours of birth 2nd dose at 1 month, then 2-3 months, 6 months if maternal hep B status is unknown, then patient should get HIB within 12 hours but no later than 1 week patients should undergo post-vaccination testing of HBsAG at 9-18 months in order to document an adequate response

Answer 43

Allgrove Syndrome

Answer 44

Peutz-Jeghers Syndrome

Answer 45

Gardner's Syndrome

Answer 46

Breastmilk Jaundice

Answer 47

Breastfeeding Jaundice

Answer 48

Gilbert's Disease

Answer 49

Crigler-Najjar

Answer 50

Sucrase-Isomaltase Def

Answer 51

Glucose-Galactose Malabsorption

Answer 52

Def: Seizures Tox: neuropathy, ataxia

Answer 53

poor bone and nail growth

Answer 54

neutropenia brittle hair osteoporosis

Answer 55

Seen a lot in premature infants because Vitamin E doesnt get maternally transferred until third trimester leads to edema, low platelets, hemolysis, anemia

Answer 56

low protein at 8-12 weeks low Na at 4-6 weeks Zn deficiency at 2-6 months

Answer 57

LSD - hallucinogenic - somatic symptoms first: dizziness, dilated pupils, flushing - perceptual changes are next - rapid emotional shifts and impulsivity - LSD is detectable for 8-12 hours - Benzos can lessen degree of agitation

Answer 58

Marijuana - short term causes chronic cough, short-term memory loss, loss of critical judgement, and time perception distortion - over extended use it can cause decrease in testosterone levels with decreased spermatogenesis and decreased glucose tolerance Marijuana in infrequent users can last 2-8 days in the urine. It can last 4-6 weeks amongst frequent users PPIs can cause false positive for cannabis

Answer 59

PCP - GI effects: cramping, diarrhea, hematemesis - Neuro: euphoria, nystagmus, ataxia, hallucination - Higher doses cause frank psychosis and verbally abusive language - Even higher doses can result in cardiac arrhythmias and seizures PCP causes nystagmus, hyperreflexia, clonus, and nystagmus Worry about Rhabdo PCP can last 2-8 days false positive with NSAIDs

Answer 60

Heroin- Opiates - Heroin withdrawal usually occurs 8 hours after last exposure - One of the first signs is yawning - Then lacrimation, mydriasis, insomnia, "goose-flesh," and systolic hypertension - Diazepam is helpful for the withdrawal symptoms

Answer 61

Iron Deficiency

Answer 62

Tic Disorder | - only discontinue medication if tic disorder is worse than ADHD symptoms

Answer 63

Thyroid abnormalities

Answer 64

Risperidone (above age 5) - can cause increased prolactin levels; therefore, obtain level prior to initiation - Can also cause hyperglycemic hyperosmolar state, galactorrhea - Side effects include increased LFTs, dyslipidemia, insulin resistance, and prolonged QTc Aripiprazole is approved for age 6 and above

Answer 65

72 hours - required to assess any immediate physical or mental issues - Then seen at 1 month and follow up occurs once every 1-2 months until 6 months - Then visits are q3 months until 2 years - Then every 6 months - Birth parents still have legal guardianship and consent to immunizations and procedures - Get consent from parents or social services

Answer 66

Dysphoria, sleep disturbance, irritability, anxiety, restlessness, and increased appetite

Answer 67

Cooling blankets, Lorazepam/Diazepam Amphetamines and Opioids can last in the system for 24-48 hours false positive with bath salts

Answer 68

Hypotension, cutaneous flushing followed by vasoconstriction, tachycardia, inverted T waves and ST depression - Methemoglobinemia has been reported with amyl nitrate (normal Pa02)

Answer 69

Try another stimulant and then can switch to alpha-agonists like guanficine or clonidine (side effects of these include sedation, bradycardia, or hypotension) Clonidine can improve tics in patients being treated for ADHD as stimulants can worsen tics

Answer 70

Testicular atrophy, gynecomastia, irregular periods, premature epiphyseal closure, tendon rupture, increased LFTs, jaundice, hepatitis, mood disorders

Answer 71

Rett Syndrome

Answer 72

- Language milestones are more predictive than gross motor issues - Physician judgement alone identifies less than half of the problems - M-CHAT to screen for autism at 18 mo, 2 yrs - Bayley Infant Development is best (Denver is not great) - Check hearing again if there is a language delay, even in a bilingual household; deaf children will respond to verbal cues at up to 6-8 months - Evaluate a stutter if it is present for more than 6 months with speech therapy

Answer 73

Landau-Kleffner Syndrome | - treatment is IVIG, steroids, AEDs

Answer 74

REM Sleep - night terrors do not occur during REM sleep because kids can move

Answer 75

After age 5

Answer 76

- HC: 80% of adult size by age 2 - Weight: regain by 2 weeks, double by 4-6 months, triple by 12 months - Length: half of adult height by age 2

Answer 77

Trick Question Never manic They are hypomanic +/- depressive episodes

Answer 78

Cyclothymic Disorder

Answer 79

2 consecutive weeks of depressed mood and/or SIGECAPS

Answer 80

> 1 year, chronic depressed mood without major depressive episodes

Answer 81

greater than 6 months defiance to authority not caused by a mood disorder

Answer 82

motor and vocal tics for greater than 1 year; usually starts < age 7, peaks at age 10, no tic free interval for greater than 3 months

Answer 83

Gamma-hydroxybuterate Rohypnol Ketamine Lead to CNS depression Colorless, tasteless, odorless

Answer 84

fever, sweating, vomiting, and most specific finding is myoclonus

Answer 85

Prolonged seizures which can lead to death

Answer 86

6-9 months of age | Wean from the bottle between 12-15 months

Answer 87

Amphetamines, Chemo, Ergotamines, Statins

Answer 88

REM sleep - occurs first in newborns <1 month of age and is the majority of sleep - in older children, non-REM sleep begins first and is 75% of sleep - nightmares occur during REM sleep and occur during the last 1/3 of the night

Answer 89

>10-50 words Identify 4 body parts Follow simple instructions Speaking in 2 word sentences should be present between 18 and 24 months

Answer 90

Metabolic Syndrome | - need 3 of the 6 listed criteria

Answer 91

10-14 days | Infants gained 20-30g/day, then 15-20g/day for the rest of the year

Answer 92

4 months of age 12 months of age 24 months of age Average weight after that is 5 pounds per year until adolescence

Answer 93

50% - average birth length is 30 in - average length at 1 year is 30 in (increase by 50%) - after 2 years of, average height increase is 2 inches per year until adolescence Doubles at 4 years of age Triples at 13 years of age

Answer 94

Between 0 and 2 months of age | - by 12 months the brain has completed half its postnatal growth and is 75% of adult size

Answer 95

- cessation of weight gain after a period of stable growth that manifests as weight < 3%ile for age - weight for height < 5%ile - growth that has fallen crossing 2 percentiles in a short time - most often caused by improper nutrition

Answer 96

``` Mandibular incisors - lower anterior Followed by the maxillary incisors - upper opposing First tooth typically erupts at 6 months of age with 6 teeth present by age 1 ``` lower central incisors --> upper central incisors --> lateral incisors --> first molars --> canines --> second molars

Answer 97

2 doses of DT - 2 months apart 3rd dose in 6-12 month 4th dose at 4-6 years of age

Answer 98

- Treat with chelation if > 45 (Dimercaprol, EDTA, Succimer); start iron supplementation if > 5 - Most accurate test is via venous draw and not finger stick - Most are asymptomatic; Higher levels result in abdominal pain, anemia, seizures, CKD, encephalopathy - extremely elevated levels > 70-100 can cause cerebral edema, seizures, and coma - Chronic lead poisoning can produce a blue line along the gums and bluish black edging to the teeth (called a Burton line) Can also cause metaphysical densities on long bones (lead lines) - Hypochromic microcytic anemia with basophilic stippling (which can also be seen in thalessemia)

Answer 99

- Low MCV - High RDW (measures variability in red cell volume) - High TIBC (TIBC measures the blood’s capacity to bing iron with transferrin so as the iron falls, the capacity to bind iron increases) - Low Ferritin (ferritin stores iron in the body so if the iron is low, then the ferritin is low as well) - Smear shows small RBCs with central pallor and a small ring of Hgb

Answer 100

- Screen girls for scoliosis at age 10 and 12 - Boys should be screened at age 13 or 14 - Patients with scoliometer readings of 5-7 degrees or greater should have standing scoliosis radiographs for further evaluation - bracing is considered in patients with scoliosis who are growing and with curves approaching 25 degrees

Answer 101

- check urine microscopy, CBC, BMP, uric acid, lipid panel - consider renal sono, ECHO, renin levels - check for a coarctation or renal parenchymal disease is children and adolescents

Answer 102

2 months and up | - no need to go past 30%

Answer 103

Obesity and Vitamin D deficiency

Answer 104

- involuntary reflex - Associated with iron deficiency - Can happen as young as 6 months to 4 years with most occurring before 18 months of age

Answer 105

6-12 months 15% of tumors that occur in men with a history of cryptochordism occur in the contra lateral testes

Answer 106

- range of motion in age 0 to 3 is about 110 degrees on each side - normal lateral neck flexion is 70 degrees on each side - most likely congenital from delivery trauma or intrauterine positioning

Answer 107

Age 3-5 years Athletes are 1 eyed if they have corrected vision worse than 20/40 in one eye Amblyopia is most common cause of decreased vision in kids Eye movements should be conjugate by 6 months so refer to ophtho if not

Answer 108

- The first permanent teeth to erupt are either the first molars or the lower central incisors (6 year molars, they do not replace primary teeth) - Normal order of eruption for primary teeth: mandibular central incisors, maxillary central incisors, maxillary lateral incisors - eruption is complete by 24-36 months - 20 primary teeth by age 3 - 7 + 4 rule: first teeth at 7 months, at 11 months they should have 4 teeth, at 15 months (11+4) they should have 8 teeth - If there is delay in tooth eruption, ask about family history as familial delayed eruption is most likely cause (also hypothyroid, hypopituitary, rickets, ectodermal dysplasia)

Answer 109

- An avulsed tooth is viable for 2 hours. Rinse with water and store in milk. Do not reimplant avulsed primary teeth

Answer 110

- Start fluoride at 6 months of age - Too much fluoride leads to white lines running across the teeth and chalky-brownish enamel discoloration or dental pitting

Answer 111

> 3 of the following is considered a metabolic syndrome: BMI > 97%ile, HDL < 40, LDL > 130, TG > 110, BP > 90th%ile, fasting glucose > 110 In kids > 10 years with LDL 130-159, give statin (after checking LFTs, CK, lipid panel) if they have risk factors

Answer 112

9-18 months Separation anxiety disorder occurs in children > 6 years of age that lasts longer than 4 weeks and manifests as excessive, long, and unrealistic fear that interferes with daily activities

Answer 113

Screen for cervical cancer at age 21 q3yrs regardless of sexual status; in patients with HIV, 2x in one year and then yearly AAP recommends that all adolescents be screened for HIV once between the ages of 15-18 years; if sexually active, screen yearly

Answer 114

- Normal BP in age 1-13 years is defined as both systolic and diastolic < 90th percentile; begin measuring BPs in kids > 3 years of age (cuff bladder should cover 2/3 of upper arm and encircle 3/4 of arm circumference - Elevated BP: SBP/DBP > 90th percentile but < 95th percentile OR 120/80 to < 95th percentile (whichever is lower) - Stage 1 HTN: SBP and/or DBP > 95th percentile to < 95th percentile + 12 mmHg, or 130/80 to 139/89 (whichever is lower) - Stage 2 HTN: SBP and/or DBP > 95th percentile + 12 mmHg, or >140/90 (whichever is lower)

Answer 115

- Kids < 4 years old are at high risk for disseminated disease - Get a CXR and start therapy for latent TB even if the PPD is negative ("window ppx") - Repeat the PPD in 10-12 weeks because this is how long it would take to get a positive result - Remember that you have to wait 4-6 after MMR to give a PPD so if you wanted 4-6 weeks after getting vaccine to get a PPD, make sure to get one 10-12 weeks after to confirm if the patient has the disease or not - If the PPD in 10-12 weeks is positive, then continue treatment for LTBI, but if its negative then stop - A quantiferon test can be used when a child is greater than 2 years of age and is preferred in children who have received the BCG vaccine (if you get a positive PPD in someone who received the BCG, then you should still treat it as a positive result)

Answer 116

- Collect newborn screens 24 hours after birth and feeding to allow for enough of abnormal enzymes being measures to accumulate - Not all states test for the same thing

Answer 117

Children may move to standard seat belts from a booster seat when they have reached 4’9” tall and are between 8-12 years of age

Answer 118

- Screening for critical congenital heart disease in newborns prior to hospital discharge but at greater than 24 hours of life - 02 sat > 95% in the right hand and foot AND the difference between the right hand and foot is lass than 3% - The infant does not pass if the 02 sat < 90%, or < 95% in both extremities on 3 consecutive measurements separated by an hour

Answer 119

After 15 years of age HPV is 2 shots before 15 and 3 shots after; most commonly associated with syncope

Answer 120

Yellow fever vaccine has the largest amount of egg protein so children with hypersensitivity should receive the vaccine in graded doses by an allergist with skin testing

Answer 121

MMR, Varicella, Polio

Answer 122

- In a child who has received 3 or more doses of tetanus toxoid, a clean wound requires post-exposure prophylaxis with a tetanus vaccine if the last dose was more than 10 years ago and a dirty wound require post-exposure prophylaxis if the last dose was more than 5 years ago - If the child has not received 3 or more doses of tetanus, any wound requires post exposure prophylaxis with a tetanus vaccine while a dirty wound also requires TIG

Answer 123

- Schedule: 2/4/6 mo, 12-15 mo - Give to kids with sickle cell, asplenia, Hgb-opathies - In children age 6-18 years, high risk of invasive pneumococcal disease who have not received any PCV13 or PPSV23, you should give 1 dose of PCV13 followed by one dose of PCV13 8 weeks later, then you give a dose of PPSV23 8 weeks later and then a second dose of PPSV23 5 years later - Give single dose if > age 2 - 23 is the plain polysaccharide vaccine - 13 is the type of pneumococcal capsular polysaccharide included in the pneumococcal conjugate vaccine

Answer 124

- Schedule: 11 years, 16 years - Menveo can be given at < 2 years of age (4 doses at 2, 4, 6, 12 months) in kids with complement deficiency - Menactra: 2 doses, 3 months apart (do not use before age 24 months) - Kid with sickle cell - Children with complement deficiencies or properdin deficiency are at increased risk of invasive meningococcal infection

Answer 125

- Schedule: 2, 4, 6, 12-15 mo, 4-6 yrs - Only in age < 7 years - Contraindicated if patient has known history of progressive neurologic disease - Diphtheria is toxin-mediated with thick-grey membranes; Can cause myocarditis, ascending paralysis, and vocal cord paralysis - Contraindications to Pertussis: if history of encephalopathy within 7 days of vaccine, can lead to inconsolable crying

Answer 126

- Schedule: 11-12 years of age - Tdap should only be used above age 7 years and children should get one dose at age 11 or 12 years - Give Tdap if no other vaccine was given before, otherwise Td - Tetanus gives you lockjaw - For kids older than 7 years who did not receive recommended 5 doses of DTaP before age 7, a single dose of Tdap should be given in the catch up series (to cover pertussis) - Additional doses can be the Td vaccine - If the first dose of the DTaP or Tdap was given at > 1 year of age, a Td is indicated in 4 weeks followed by a second Td 6 months after the first - Then can give a dose of Tdap at 11-12 years - Pregnant women should receive Tdap at 27-36 weeks IN EVERY PREGNANCY no matter what

Answer 127

- Schedule: 12 months, 4-6 years - Post-exposure vaccination (in children > 12 months of age) in 3-5 days, In immunocompromised kids with no history of varicella disease, they should receive VariZIG within 10 days of exposure (ideally 96 hours) - Give VariZIG is not indicated in immunocompetent kids < 12 months except an infant who’s mother develops varicella 5 days prior to 2 days after delivery - FREEZE VARICELLA. Kids can get a rash 6 weeks after varicella administration (not vesicular but maculopapular) - If < 13 years, give 3 months apart; If > 13 years, give 1 month apart - Dont give until 1 month after steroids stopped or 12 months after IVIG - This applies to patients being treated with > 2 mg/kg/d or > 20 mg/day in children > 10 kg - Can give if CD4+ count is > 15% (if so, give at 12 months of age, then 2nd dose 3 months later) - Can give if child lives with pregnant woman or immunocompromised person - Don’t give MMRV in less than 1 year of age because there aren’t studies to show efficacy of varicella component

Answer 128

- Schedule: 12 months, 4-6 years (SubQ) - Slightly higher risk of febrile seizures with MMRV vs MMR alone - If a patient has been exposed to measles and they have never received the shot, or have only had one dose in the series, treat by giving the vaccine (you do not have immunity until you have received both vaccines) - Can give if child lives with pregnant woman or immunocompromised person - Give PPD on same day or wait 4-6 weeks - Give on the same day as varicella or else wait a month - Can’t give if > 12 years - Give 3 weeks before or 12 months after IVIG - Can give if CD4+ count is > 15% (if so, give at 12 months of age, then 2nd dose 28 days later) - Dont give until 1 month after steroids stopped or 12 months after IVIG - This applies to patients being treated with > 2 mg/kg/d or > 20 mg/day in children > 10 kg - The proximity of the MMR dose of two weeks with treatment with IVIG requires a repeat dose prior to the dose due at 4-6 years, but not before 11 months following treatment

Answer 129

- Schedule: Birth, 2, between 6-18 mo - Mom’s with Hep B surface Ag positive (even in infants < 2 kg) - infants get Hep B IG AND Hep B vaccine within 12 hours of birth (doesn’t count in 3 dose series) - 2nd dose at 1 month, then 2-3 months, 6 months - Prior to 1 month of age in kids less than 2 kg, decreased rates of seroconversion are common in infants but by 1 month, all kids respond - Preterm infants of HepBsAg negative mothers who are < 2 kg at birth should receive first of 3 doses of Hep B vaccine at 1 month or at hospital discharge, whichever comes first. 2nd dose is 1-2 months after first and 3rd is 8 weeks after the 2nd - If mother Hep B status is unknown give Hep B shot within 12 hours (HIB is < 2 kg). If mother is positive then give HIB within 1 week - After all doses, check HBsAg and Ab 1-2 mo after last dose (never before 9 months) - If HBsAg (-) but titer is < 10, then give another dose

Answer 130

- Schedule: 12-18 mo, booster 6-12 mo later - Minimal interval between doses is 6 months - If someone is traveling to a place where Hep A is endemic, give an age appropriate dose prior to travel if > 6 months of age - If patient is less than 1 year of age, give immune globulin - If they are greater than 40 years of age, give vaccine and immune globulin

Answer 131

- Schedule: 2, 4, 6-18 mo, 4-6 yrs - Adults who received a complete polio immunization series in childhood and intend to travel for more than 4 weeks in a polio-affected country should receive a single lifetime booster - Don’t give after -myxin, -mycin - Oral polio can transmit to immunocompromised patients

Answer 132

- Schedule: 2 mo, 4 mo - Don’t give after 8 months of age and don’t start after 15 weeks - The first dose of rotavirus vaccine should be administered from 6 weeks through 14 weeks + 6 days of age - Rotarix is two doses and has latex - Can give to preterm infants beginning at > 6 weeks of age if clinically stable - If patient is still in the hospital at 2 months of age, then wait to give the rotavirus vaccine to prevent nosocomial spread of the vaccine virus - SCID and history of intussusception are contraindications to the vaccine, spina bifida, gastro

Answer 133

- Schedule: 2, 4, 6, 12-15 mo - Don’t give after age 5 years If > 15 months then only one dose - Children with stem cell transplants should receive 3 dose series of His regardless of age - Children less than age 4 who are unimmunized against HFlu are at risk of invasive disease chemoprophylaxis with rifampin - if greater than 2 cases with under immunized kids, then all childcare providers and attendees need ppx regardless of age or vaccination status

Answer 134

- Schedule: 6 mo, booster at 9 mo - Don’t give in pregnancy, asthma, Guillan Barre, or close contacts to immunocompromised - Contraindicated in chronic ASA therapy - If first dose is after 9 years of age, then only requires 1 dose

Answer 135

Transposition of the Great Arteries (first 24 hours!) - Blue Baby! Loud second heart sound cause the aorta is against the chest wall - the aorta rises from right ventricle and pulm artery rises from the left ventricle - palliation by bloom atrial septostomy and PGE - right-to-left shunting of saturated blood through the ductus - sats low above the PDA and high below the PDA big baby with normal to increased pulmonary blood flow - loud second heart sound, “egg on a string” on CXR can get pulmonary stenosis and aortic insufficiency - normal EKG in a newborn, later gets RVH, RAD

Answer 136

S4 - can be heard with aortic stenosis, mitral regurgitation, hypertrophic cardiomyopathy, and hypertension with left ventricular hypertrophy Low frequency sound in presystolic portion of diastole, Seen in patients with stiffened left ventricles, resulting from conditions such as hypertension, aortic stenosis, ischemic or hypertrophic cardiomyopathy. When blood enters a stiff, poorly compliant left ventricle during atrial contraction; should always be considered pathologic

Answer 137

Still's Murmur - Very common in childhood - Musical quality - Most common innocent murmur in children beyond the newborn period - low-pitched, musical, 2/6 systolic murmur heard best at the left sternal border that changes with position and is not heard during Valsalva - does not radiate - increases with increased cardiac output - fever, exercise, anemia, loudest when supine

Answer 138

Physiologic Peripheral Pulmonary Stenosis (PPS) - most common murmur of infancy - Not pathological - Due to turbulence caused by 2 factors: 1. The branch pulmonary arteries being smaller compared to the main pulmonary artery 2. The sharp angle of origin of the branch arteries off the main pulmonary artery. - Soft, harsh systolic ejection murmur is BEST HEARD AT THE AXILLA and both the right and left hemithoraces (radiates to the right and posterior lung fields) - By 6-12 months of age the branch pulmonary arteries become larger and the angle of origin off the main pulmonary artery widens causing the murmur to disappear

Answer 139

Venous Hum - Due to blood draining down the collapsed jugular veins into the larger intrathoracic veins - High velocity makes the vein walls flutter causing the murmur - It is absent when the patient is supine because the neck veins distend and there is no pressure gradient between the two areas - innocent murmur

Answer 140

Jervell and Lange-Nielsen Syndrome - AR - increased palpitations, syncope, sudden cardiac arrest secondary to torsades - macrolides, antifungals,and narcotics can cause long QTc (> 460 ms)

Answer 141

- Large peaked T waves - Progressive lengthening of PR and QRS intervals - Loss of P wave + QRS widening into sine wave - Ventricular fibrillation or cardiac standstill

Answer 142

Left Ventricular Hypertrophy - A tall R wave in V6 is consistent with LVH - Negative T wave after 7 days of life is consistent with LVH WITH STRAIN

Answer 143

Mobitz I aka Wenckebach - Secondary AV block - Primarily from vagal tone on the AV node - Not progressive or malignant - Rarely require treatment 1st degree: PR interval prolongation with all P waves Mobitz 1: progressive PR interval lengthening before a single conducted P wave drops

Answer 144

Mobitz 2 - implies His-Purkinje conduction system and is abnormal - Pacemakers may be required if the patient is symptomatic or if average heart rates are very low Mobitz 2: sudden nonconductor P wave with no change in PR on the previous beat (pacemaker)

Answer 145

Diving Reflex - Place a bag of ice on the infant's face for 10-20 seconds - this is a type of vagal maneuver - if not successful, use adenosine - if child is unstable, cardiovert - AVOID verapamil in children < 1 year of age - can be controlled long term with digoxin, calcium channel blockers, or beta blockers

Answer 146

Reassurance | - Avoid caffeine

Answer 147

VSD - left to right shunt defect where blood from systemic circulation shunts to the pulmonary ventricle by an abnormal connection

Answer 148

Ebstein's anomaly of the Tricuspid valve - posterior and septal leaflets of the tricuspid valve are displaced downward and attached to the right ventricle wall (severe tricuspid regurg) - Results in atrialization of the R ventricle) - look for a huge right atrium on the ECG with wall-to-wall heart shadow on CXR - Fixed S2 - EKG shows large P waves and WPW - presents with cyanosis and heart failure secondary to decreased cardiac output with RV failure - need an ASD to survive

Answer 149

PDA - usually closes within 10-15 hours of birth - Indomethacin CLOSES the PDA (bounding peripheral pulses) - Prostaglandin OPENS the PDA

Answer 150

VSD | - As the pulmonary resistance drops over the 1st month of life, more blood flows across the VSD leading to heart failure

Answer 151

Ostium Secundum Type of ASD - most common ASD located in midseptum - fixed split S2 - get RVH and RAH - differentiate from ostium primum defect by left axis deviation - risk of pulmonary HTN

Answer 152

Complete AV canal defect - involves failre of the central heart to develop - also results in malformation of the mitral and tricuspid valves - heart failure by 2 months of age

Answer 153

Aortic Regurgitation - high pitched, early diastolic decrescendo murmur - Rheumatic fever is a major cause

Answer 154

Mitral Valve Prolapse - occurs when 1 or both leaflets of the mitral valve prolapse back into the left atrium in systole - for an early systolic murmur that gets louder on standing, think HYPERTROPHIC CARDIOMYOPATHY - Midsystolic click —> MVP - Associated with anorexia - if myofibrillar atrophy, can lead to heart failure

Answer 155

Pulmonary Stenosis - 2nd most common congenital cardiac defect - Peaked P waves in lead II indicate right atrial enlargement - if stenosis is mild, no therapy is required - if more severe, then these children commonly need pulmonary balloon valvuloplasty or surgical valvotomy

Answer 156

Pulmonary Stenosis

Answer 157

Aortic Stenosis - SEM at right/left upper sternal border - early ejection click - decreased peripheral perfusion - Giving PGE1 can help in opening the ductus to get blood to the aorta - this should be followed by balloon angioplasty of the aortic valve or surgical valvuloplasty

Answer 158

Aortic Stenosis - murmurs and thrills become more prominent as children get older - refer for ECHO or cath because PE may not be enough to understand severity

Answer 159

Hypertrophic Cardiomyopathy - AD - most common cause of death in exercising young people - Systolic or holosystolic murmur depending on degree of obstruction - murmur is best heard at left sternal border with radiation to aortic area - in HCM, valsalva and standing INCREASE the murmur - in aortic stenosis these maneuvers DECREASE the murmur

Answer 160

Supravalvular Aortic Stenosis - narrowing just above the level of the coronary arteries - pulmonary and renal arteries can also be narrowed - needs cardiac eval before anesthesia

Answer 161

DiGeorge Syndrome - 22q11 FISH test used for diagnosis - abnormal neural crest migration into the 3rd and 4th pharyngeal arches —> absent thymus and parathyroid —> decreased calcium and increased seizures - no T cells, has B cells but can’t make Abs - long QTc or long ST intervals - short philtrum, micrognathia, external ear anomalies, bifid uvula, truncus arteriosus, Tet of Fallot CATCH 22: cardiac defects, abnormal facies, thymus hypoplasia, cleft defects, hypocalcemia

Answer 162

Coarctation of the Aorta - long crescendo-decrescendo murmur at ULSB radiating to the mid scapular area, radiates to the back of the chest - characterized by narrowing of the descending aorta - narrowing is located at the insertion of the ductus arteriorsus just distal to the left subclavian artery resulting in left ventricular pressure overload - IMPORTANT to initiate PGE - treat with BETA BLOCKER before surgery, ACE after to prevent coronary artery disease

Answer 163

- Right Ventricular Outflow Obstruction - VSD - RVH (larger ventricular forces in V1 and V2) - Overriding Aorta Pulmonic stenosis

Answer 164

Tetralogy of Fallot - treat with surgery by age 6-12 months The first step in the treatment of a tet spell is to place the child on their right side in the knee to chest position and give oxygen to decrease the pulmonary vascular resistance (squatting increases SVR and pushes blood through the RVOT obstruction) squatting decreases the R—>L shunt given pulmonary resistance and increases pulmonary flow there is decreased murmur in a tet spell because there is decreased flow across the obstructed right outlet If the spell persists, then you can give a beta blocker to slow the heart rate and relax the right ventricular outlet obstruction OR MORPHINE to decrease the RVOT obstruction Increase 02 with volume, pRBC, 02, bicarb (to get rid of metabolic acidosis from decreased 02 delivery)

Answer 165

Complete transposition of the great arteries - can get pulmonary stenosis and aortic insufficiency - Higher oxygen saturation in the right foot is called reverse differential cyanosis. - Is seen in D-transposition of the great arteries when either pulmonary hypertension or aortic arch obstruction is also present “Blue” blood from the vena cava flows to the right atrium, into the right ventricle, out the aorta, and back around to the vena cava. “Red” blood flows from the pulmonary veins to the left atrium, the left ventricle, and then out the pulmonary arteries to return to the left atrium via the pulmonary veins. For a neonate to survive, there needs to be mixing of these 2 circulations, which ideally occurs at a nonrestrictive (big enough so that pressures on either side are equal) atrial level shunt. Although less mixing can take place across a PDA, its presence can be sufficient. Initiation of prostaglandin infusion to maintain an open ductus arteriosus can be life saving

Answer 166

Egg-shaped or Oval-shaped heart - with narrow mediastinum (due to aorta being in front of main pulmonary artery) - small thymus

Answer 167

Tricuspid Atresia - presents with cyanosis as its key presenting sign - occurs within hours of birth when the PDA begins to close presence of cyanosis with EKG findings of left superior axis deviation (remember this is also seen in AV canal or endocardial fusion defects but these are noncyanotic heart defects) Because there is not tricuspid valve, blood must go from the right atrium into the left atrium via an ASD and then goes to the left ventricle into the aorta but it is not oxygenated, hence the cyanosis obstruction to pulmonary flow so there is decreased pulmonary vasculature on CXR If VSD is big, then you can go into heart failure because of way too much blood to the lungs. If too small then you get restrictive pumonary blood flow

Answer 168

Total Anomalous Pulmonary Venous Return - very sick after birth with profound cyanosis ad respiratory distress - occurs when the pulmonary veins go either to the RA or to other systemic veins that then drain into the RA - snowman finding occurs when the pulmonary veins drain into the left SVC and blood flows into the main innominate vein where it finally enters the heart through the normal right SVC - NO MURMUR - EKG showes RAD, RVH

Answer 169

Abberant Right Subclavian Artery - arising from the descending aorta - DiGeorge Syndrome

Answer 170

Double Aortic Arch - persistence of both right and left 4th embryonic arches - results in encircling of the trachea and esophagus causing tracheal compression and respiratory symptoms - Associated with DiGeorge

Answer 171

Anomalous Origin of Left Coronary Artery from the Opposite Cusp - occurs when coronary arteries come off the opposite cusp and pass between the aorta and pulmonary artery - with exercise, the aorta and pulmonary artery dilate, which can "squish" the misplaced coronary and cut off circulation

Answer 172

Spironolactone | - K sparing

Answer 173

None - Only children with prosthetic valves, history of endocarditis, unrepaired cyanotic heart disease, completely repaired heart disease with prosthetic repair, transplant patients with valvular disease - patients with a completely repaired congenital heart defect using prosthetic material or devices require prophylaxis but only during the first 6 months after the procedure - bicuspid aortic valves, valve disease, or MVP do not require prophylaxis - you do not need prophylaxis if you are adjusting orthodontic appliances - do need prophylaxis for a tonsillectomy - Give 2 g Amoxicillin oral 1 hour before the procedure

Answer 174

Rheumatic Fever - To make diagnosis, you must have either 2 major or 1 major/2 minor, or 3 minor manifestations. - In this patient, chorea is the 1 major - You must also confirm a recent or concurrent strep infection

Answer 175

COPS - C: cholinergics, clonidine - O: opiates, organophosphates - P: PCP, pilocarpine - S: sedatives

Answer 176

AAS - Anticholinergics (atropine) - Antihistamines - Sympathomimetics (amphetamine, cocaine, LSD)

Answer 177

Anticholinergics - benadryl, amitriptyline, atropine - dry as a bone, red as a beet, hot as a hare, blind as a bat, mad as a hatter

Answer 178

Salicylate ingestion - treatment includes giving bicarb to raise urine pH - mixed acid base disorder with respiratory alkalosis and an elevated anion gap metabolic acidosis - wintergreen odor - presents with GI symptoms and neurologic symptoms - severe symptoms give hyperthermia, hypoglycemia, and hypokalemia - give IVF and urinary alkalization to facilitate salicylate excretion - Make sure to give K because hypoK will combat urinary alkalization

Answer 179

Tricyclic antidepressants - inhibit sodium channels - give bicarb to alkalinize the serum pH

Answer 180

Methanol - found in window washer fluid - ethylene glycol results in renal failure (slurred speech) - onset is delayed in presentation for ethylene glycol and methanol when ethanol is ingested as well - risk of renal failure due to deposition of calcium oxalate crystals in renal tubules —> hypocalcemia, nausea, vomiting, metabolic acidosis - give fomepizole and can also give sodium bicarbonate to correct the acidosis

Answer 181

Observe on pulse ox and get CXR at 6 hours - risk of pneumonitis from hydrocarbon aspiration can be febrile due to chemical pneumonitis DO NOT GIVE CHARCOAL Toluene is a hydrocarbon —> RTA

Answer 182

Organophosphate or Carbamate - DUMBELS - results from accumulation of acetylcholine at the nerve synapses - Causes SLUDGE (salivation, lacrimation, urination, defecation, GI cramping, and emesis) - can also have bronchospasm which causes coughing - Clothing should be removed and patient decontaminated with soap and water - NO seizures but can have coma

Answer 183

Basilar skull fracture - Get a CT of the brain and temporal bone - small risk of meningitis after - can possibly develop hearing loss or facial paralysis

Answer 184

CT scan - Infants < 2 years of age with nonfrontal scalp hematomas are at risk of intracranial injury - unexplained so suspicious for abuse - skeletal survey in less than age 2 - TBI is most common fatality from abuse

Answer 185

Hypertension Bradycardia Irregular Respirations - possibility of increased intracranial pressure

Answer 186

Salter-Harris Type 1 Fracture - Tenderness over the distal fibular growth plate in young children is suspicious for fracture even if the xray is normal

Answer 187

Defibrillation - Pulseless VTach and VFib require shock - Begin with 2J/kg then resume CPR - Epi every 3-5 minutes - 2nd shock and subsequent is 4 J/kg - CPR > shock > CPR > drug > shock VTach is widened QRS with AV dissociation (p waves are absent or intermittent and T waves are usually in opposite direction of QRS) Tx: IV amiodarone

Answer 188

SALTeR Harris - S: Type 1 - straight across - A: Type 2 - above - L: Type 3 - Lower - T: Type 4: Two or Through - R: Type 5: Rammed Together

Answer 189

Fanconi Anemia | - AR

Answer 190

Liver | - after birth the kidneys take over

Answer 191

HbF - 90% of the circulating Hgb in the fetus at 6 months gestation after which time it begins to be replaced by adult hemoglobin - at birth, 70% of the total hemoglobin is HbF

Answer 192

Iron Def Anemia | - RDW is increased (RDW is normal in thalassemia)

Answer 193

Beta-thalassemia - no beta-globin production - expansion of the bone marrow space in the facial bones leads to "chipmunk facies" - electrophoresis only shows HbF because there is no beta-globin production - beta-thal major is transfusion-dependent and often develop iron overload requiring chelation therapy

Answer 194

Hereditary Spherocytosis - AD - abnormal spectrin and ankyrin —> loss of cytoskeletal membrane (pos osmotic fragility test) - increased retic and MCHC - parvovirus associated aplasia - The instability of the cytoskeletal membrane leads to the loss of membrane structure and loss of the normal biconcave shape of the RBC - So cells are less pliable and do not deform during splenic transit —> RBC destruction and Coombs-negative hemolytic anemia - Spherocytes on peripheral smear are small, hyper chromic, perfectly round without an area of central pallor - complications include cholelithiasis due to bilirubin stones - mutation in protein 4.2 - can cause kernicterus in neonatal period

Answer 195

Sickle Cell Disease - dactylitis is one of the first symptoms in children - MCC of distal blistering dactylics is GAS then staph

Answer 196

Moyamoya | - collateral formation of vessels due to vascular occlusion

Answer 197

HbC - have a mild hemolytic anemia and splenomegaly - no vaso-occlusive problems - heterozygotes have no symptoms - target cells

Answer 198

Cyclic Neutropenia - occurs at intervals of 21+3 days - ANC < 200 - management includes G-CSF and antibiotics - at risk of sepsis caused by Clostridium septicum (AD) - 21 day intervals of neutropenia; fever, pharyngitis, apthous ulcers, rectal/vaginal ulcers, cervical LAD; give daily GCSF and check CBC 2x/wk

Answer 199

Kostmann Syndrome (Severe Congenital Neutropenia) - AR - risk of early death - severe chronic neutropenia < 200 - oral and perirectal abscesses - management includes G-CSF - bone marrow transplant is curative - high risk of AML - dangerous because there is a prolonged period of neutropenia with no marrow reserves and children have myeloid arrest that doesn’t respond to gcsf

Answer 200

Schwachman-Diamond Syndrome - AR - mutations in SBDS gene - skeletal abnormalities, neutropenia (can be cyclic, bone marrow suppression), and short stature - exocrine pancreatic insufficiency —> steatorrhea, severe diaper rash, FTT, fat soluble vitamin deficiency - don’t confuse with CF cause CF does not have bone marrow suppression or extra pulmonary infection - neutropenia etc can lead to skin abscesses, otitis media - pancreatic insufficiency and neutropenia - looks like CF but CF does not have neutropenia

Answer 201

Immune Thrombocytopenic Purpura - present with petechiae, bruising, and mucosal bleeding - parents often report a preceding viral illness - caused by an immune-mediated destruction of circulating platelets - NOT a platelet production problem - First step when bleeding with decreased platelets is IVIG!!! - Antibodies coat the platelets so they cannot be destroyed - Usually follows a viral illness - Peripheral smear shows MEGATHROMBOCYTES

Answer 202

Thrombocytopenia with Absent Radii Syndrome - different from Fanconi's and Tris 18 by presence of normal thumbs - most survive and platelet counts improve on their own - often have an associated congenital heart disease and experience episodes of severe hemorrhage - marked decrease in megakaryocytic - decreased platelets (absent megakaryocytes), associated with ToF

Answer 203

Wiskott-Aldrich Syndrome - SMALL platelets (ITP has LARGE platelets) - increased risk of lymphoma “EXIT” - Eczema, X-linked, Immunodeficiency, Thrombocytopenia risk of lymphoma; low IgM, high IgG/IgA - get invasive infections from encapsulated organisms treat with antibiotics, IVIG and possible splenectomy might require BMT before age 5

Answer 204

Bernard-Soulier Syndrome - mild throbocytopenia - giant abnormal platelets, often bigger than RBCs - def of platelet glycoprotein 1b in the platelet membrane that results in the platelets not being able to aggregate properly - severe mucocutaneous bleeding in infancy - Inability to bind von Willebrand factor - the clinical scenario would be post-surgical bleeding with an increased mean platelet volume

Answer 205

Glanzmann Thrombasthenia - abnormality in the genes encoding the allb-beta3 integrin fibrinogen receptor - the platelets cant bind fibrinogen and agggregate - NORMAL platelet counts

Answer 206

Fanconi Anemia - AR - mean age of 8-9 years - pancytopenia that persists in first decade of life - GI atresias, NO THUMBS, absence or hypoplasia of the radii; cafe au lait spots, HYPOgonadmism, low birth weight and short stature - macrocytic - Risk of developing AML - BMT is curative

Answer 207

Diamond-Blackfan Anemia - normal bone marrow cellular components - red cell precursors are absent - presents around 2 months of age (usually less than age 1), macrocytic - dx with adenosine deaminase, webbed neck, cleft lip/palate, renal/heart defects, THUMB ABNORMALITIES - responds to corticosteroids - chronic RBC transfusion or stem cell transplant indicated in those who dont respond to steroids - isolated anemia (macrocytic), Schwachmann Diamond and Fanconi’s have pancytopenia - If you have microcytic RBCs without inclusions then think about Diamond Blackfan or Fanconi’s anemia

Answer 208

Factor Assays for Factors 8, 9, 11 | - Factor 12 def does not present with bleeding but does have prolonged PTT

Answer 209

YES! - If you do a mixing study and the PTT normalizes, you should suspect a clotting factor deficiency - If PTT does not normalize, the patient has developed an inhibitor to a clotting factor protein, usually a luupus anticoagulant or Factor 8 inhibitor. - Lupus anticoagulant prolongs the PTT but does not cause bleeding

Answer 210

Factor 8 in A - X-linked, always male, and positive family history on mom's side Factor 9 in B - X-linked recessive

Answer 211

von Willebrand Disease Type 1 - vWF helps platelets stick to exposed endothelium and other platelets - it is the carrier protein for factor 8 Type 2: issue with the quality of the vW factor; decreased or increased binding of vW factor to platelets Type 3: undetectable levels of vW factor

Answer 212

Factor 12 Deficiency | - totally asymptomatic

Answer 213

Factor 13 Deficiency - AR Factor 13 is responsible for cross-linking fibrinogen to form a stable clot - PT, PTT, platelet count doesnt pick up this deficiency

Answer 214

2.5-3 g/dL

Answer 215

ALL - peak age of 2-5 years - can present with fatigue, pallor due to anemia, and painful limping due to bone marrow packed with leukemia blasts - often present with bone pain, fever, easy bruising, and LAD - CBC can be normal, but often have anemia and thrombocytopenia with bone pain and lucency’s near metaphyseal line (leukemic line) - Increased LDH due to rapid cell turnover - WBC count determines risk category, <50K is good (can be low or high but always neutropenic), as well as prior prednisone use - risk of relapse based on detectable disease at the end of induction - relapse to bone marrow, testicle, CNS

Answer 216

AML - these are localized masses of leukemic cells - can be the first sign of AML - Auer rods: nucleated RBCs which is not good because this means that erythropoiesis is ineffective - Leukoerythroblastic reaction: primitive WBC, nucleated RBC, teardrop shaped RBC - more likely than ALL to have hyperviscosity - never in the testicles - can get chloromas in the cranium and facial bones that present as exophthalmos and gum hypertrophy

Answer 217

t(9;22) - CML - BCR-ABL gene - abnormal protein tyrosine kinase

Answer 218

Juvenile Myelomonocytic Leukemia - no blast crisis - 5 year survival without BMT is < 10% - NF1 is increased risk

Answer 219

Reed-Sterberg Cell - large cell with multiple nuclei - looks like owl eyes - most are B-cell lineage

Answer 220

Excisional Biopsy of the Node | - this kid is at higher risk of Hodgkin Lymphoma

Answer 221

Early-Onset Coronary Artery Disease | - also causes hypothyroid, pulmonary fibrosis, and an increased risk of breast cancer

Answer 222

Non-Hodgkin Lymphoma

Answer 223

Burkitt Lymphoma - most common form of non-hodgkin lymphoma originating from mature B cells in peyers patches - jaw involvement common in the african form - can result in tumor lysis syndrome - Most cases originate in Peter patches within the GI tract, most commonly at the ileocecal junction - most patients present with nausea and vomiting

Answer 224

Thymic T cell Origin - NHL tumors that present as mediastinal masses are almost always lymphoblastic lymphomas (Lymphoblastic Lymphoma is usually an intrathoracic mediastinal mass and can present as SVC syndrome, bone marrow mets are common, usually T cell disease) - typically seen in adolescent males - In patients with mediastinal masses, you should worry about the potency of the right atrium - patient’s should not be supine as gravity will cause worse compression - dont sedate them as the loss of negative intrathoracic pressure can compress the right atrium

Answer 225

Staph epi | - usually methicillin resistant

Answer 226

IV Ceftraixone or Cefotaxime plus IV Vanc (because of increased S pneumoniae resistance) - Worry about hearing loss in kids who survive meningitis

Answer 227

Streptococcosis - S pyogenes (only member of group A beta-hemolytic strep) - Toddlers with GABHS usually present with these symptoms rather than pharyngitis

Answer 228

Strep pneumo - gram positive cocci in chains and pairs - it is a normal inhabitant of the upper respiratory tract - most common cause of acute bacterial otitis media, sinusitis, and pneumonia in children < 5 years of age - cochlear implants result in increased risk of pneumococcal meningitis - if older than age 2, given 23 valent after all PCV13 doses

Answer 229

Bacillus cereus toxin food poisoning - can cause two types of gastroenteritis: 1. a short incubation type (1-6 hours) emetic type due to preformed heat-stable toxin 2. a longer incubation (8-16 hours) diarrheal type due to heat-labile enterotoxin production in vivo in the GI tract Supportive care

Answer 230

Diphtheria - corynebacterium diphtheriae - tonsillopharyngeal diphtheria is an upper respiratory infection with these findings - 10% of patients develop myocarditis which occurs in the first week of the infection - can also get ascending paralysis and vocal cord paralysis - swelling of the neck - "bull neck" - adenopathy

Answer 231

Perianal Group A Streptococcal Cellulitis | - most commonly occurs in children between age 6 months and 10 years

Answer 232

No! Healthcare workers should only take prophylaxis if they have close, intimate contact with oral secretions (intubation or mouth to mouth resuscitation)

Answer 233

Gonococcal Ophthalmia - presents 2-7 days after delivery - gram stain the discharge and culture for n. gonorrhoeae

Answer 234

- If >3 tetanus immunizations in the past does not reguire immunoglobulin for a dirty wound - last tetanus immunization was 6 years ago and was a DTaP (she has not had Tdap booster that incudes pertussis so she needs this today) - If her last immunization 6 years ago was the Tdap, then she would need a Td today - Only one Tdap is recommended per lifetime currently

Answer 235

Potassium and Magnesium | - other side effects include fever, renal failure, phlebitis, and acidosis

Answer 236

Bone Marrow Suppression - When given phrophylactically to HIV+ pregnant patients during pregnancy, labor, and delivery (and to the newborn), ZDV reduces the risk of perinatal transmission of HIV by nearly 70% - Can cause myopathy

Answer 237

Neither! | Do not check for strep if there are associated URI symptoms as this is likely viral in etiology

Answer 238

Septicemia and pneumonia - usually between days 0-7 of age - meningitis is rare - treat initially with amp and gent and then with PCN G once confirmed (10 days for pneumonia, 14-21 days for meningitis, and 2-4 weeks for septic arthritis) Dont use gent as a mono therapy until you have confirmed that there is no meningitis as this does not penetrate the CSF

Answer 239

Bacteremia without a focus and meningitis - usually occurs around 27 days of life (range of 7 days to 3 months of life) - less than 10% present with osteomyelitis (especially proximal humerus) and septic arthritis - treat initially with amp and gent and then with PCN G once confirmed (10 days for pneumonia, 14-21 days for meningitis, and 2-4 weeks for septic arthritis)

Answer 240

Listeria monocytogenes - gram-positive rod - infections in setting of decreased cellular immunity - environmental sources include sheep, goats, other livestock, and poultry - infection can also occur with direct contact with goat cheese, uncooked hot dogs, tofu, or contaminated vegetables - predominant peripheral lymphocytes - late onset (after 1 week of age) leads to meningitis - early onset presents as sepsis or PNA - treat with PCN/ampicillin, avoid deli meats, hot dogs, meat spreads, or goat/imported cheeses - presence of increased number of peripheral monocytes can suggest neonatal listeriosis which can present as a flu like illness in the 2nd or 3rd trimester

Answer 241

Flagyl - treat the first recurrence with flagyl if the disease remains mild to moderate - after this use oral vancomycin

Answer 242

Anthrax - occurs from handling contaminated hides/wool - can progress to sepsis and meningitis if not treated - 95% of cases are cutaneous - can have fever, headache, and painful LAD

Answer 243

Pertussis - in adolescents the CBC is normal - in infants and young children you see an elevation in WBC with absolute lymphocytosis - this patient is in the paroxysmal stage - catarrhal (URI, when infectious), paroxysmal (whooping cough), convalescent (cough decreases treat with an oral azithromycin (pyloric stenosis is a side effect though); can give bactrim if > 2 months to avoid kernicterus in the younger babies prophylaxis after exposure should go to pregnant women even if fully immunized and healthcare providers, even if fully immunized, because they are at risk of spreading it to high risk individuals Those living in the house of the index case should also receive prophylaxis treat newborn babies too because there is little transplacental protection from the mother

Answer 244

Shigella - most common cause of diarrhea, esp in daycare centers - children 1-4 years of age have the highest incidence - bloody diarrhea and SEIZURES are common, vaginal bleeding - self-limited but antibiotics can be given in severe cases - Shiga-toxin HUS; no antibiotics because this leads to worsening HUS - Acalculous Cholecystitis can be seen after Shigella/Salmonella

Answer 245

E coli O157:H7 - Do not treat with antibiotics because it doesn't work! - common reservoirs include uncooked beef and unpasteurized milk or apple juice

Answer 246

Legionella pneumophila - associated with contaminated water towers or air-conditioning water units - infections are rarely seen in children

Answer 247

Nontyphoidal salmonella - frozen foods, milk, eggs, produce, and peanut butter cause salmonella outbreaks - Iguanas, baby chicks, frogs, turtles, and other exotic pets can be a source as well

Answer 248

CT or MRI of the Head | - you should be very concerned about brain abscesses (occur in 755 of cases)

Answer 249

Pseudomonas aeruginosa - also the most common cause of endocarditis in IV drug abusers, bacteremia in burn patients, and chronic suppuratic otitis externa (can be severe in diabetics)

Answer 250

Rocky Mountain Spotted Fever - tick-borne disease - caused by Rickettsia rickettsii - mainly found in mid-atlantic states - ow platelets, low Na, increased LFTs - rash (which is absent in 20%) begins at the ankles and wrists then spreads within hours to the trunk, palms, soles - rash progresses from maculopapular to petechial to purpuric - treat with doxycycline

Answer 251

Bacteremia | - admit for IV antibiotics

Answer 252

Pasturella multocida - can rapidly cause cellulitis within 24 hours of bite accompanied by fever and regional LAD - second organism is S aureus - give antibiotics because cat bites cause deep punture wounds - Treat with Amox/clav but if allergies —> Bactrim plus clindamycin

Answer 253

- caused by Bartonella - tender papules and LAD - diagnose with IgG/IgM testing - supportive treatment - do not incise and drain the lymph node as a persistent sinus tract can have developed - Azithromycin can reduce the time in which LAD resolves but spontaneous resolution usually occurs in 2-4 months - DONT I&D

Answer 254

Actinomyces - anaerobic organism that is part of the oral and GI flora - fistulizes!!! - the yellow sulfur granules are actually clusters of organisms - most commonly associated with dental infections and pelvic inflammatory disease in adolescents with IUDs - tx is PCN G

Answer 255

Yersinia pseudotuberulosis or Yersinia enterocolitica - presents like appendicitis but at the time of surgery, appendix appears normal but there is inflammation of the terminal ileum and mesenteric lymph nodes - transmitted via ingestion or handling of raw or undercooked pork products

Answer 256

Chlamydophilia pneumoniae - causes community acquired pneumonia in people > age 5 - treat with macrolides (erythromycin and azithromycin) - can also use tetracyclines and FQs - causes a biphasic pneumonia

Answer 257

Chlamydia trachomatis | - seen in the first 4 months of life

Answer 258

Tularemia aka Rabbit Fever - think of this with a kid from Arkansas/Missouri/Oklahoma with a swollen LN and fever - caused by Francisella tularensis - Can be seen in those who hunt, trap, or handle rabbits - Tx: gent or streptomycin for 10 days

Answer 259

Chlamydophila psittaci - found in parrots or parakeets (psittacine) and other birds - causes splenomegaly and pneumonia - Histoplasmosis also causes pneumonia and splenomegaly but from bird and bat droppings

Answer 260

Leptospirosis - spirochetal disease transferred by contact with contaminated water or infected animals - rat and dog urine are the most common vectors of transmission - many patients have biphasic illness (2 phases separated by 3-4 days of no fever) - Diagnose with urine studies after 4-7 days of illness

Answer 261

None - serology is negative in 90% of early-localized cases of Lyme disease - base diagnosis on clinical findings - erythema migrans is stage 1 so you dont need to check lyme serology, just treat!

Answer 262

Histoplasmosis - endemic to Mississippi and Ohio River valleys - associated with brid and bat droppings - Palate ulcers!

Answer 263

Lyme Disease - can be symptoms of early disseminated lyme disease (stage 2) - suspect lyme disease if you see bell's palsy and/or foot drop - can have a complete heart block

Answer 264

Congenital Toxoplasmosis - infants infected early in pregnancy are more likely to be severely affected If calcifications CircuMVent the ventricles (periventricular) the cause is then CMV! most healthy children who are infected do not need to be treated but may need prophylaxis if they become immunosuppressed at any point in their lives (infection can reactive at any time in life) Toxo triad: chorioretinitis, intracranial calcifications, hydrocephalus rare meat, cat oocytes test with serology treat all infants: pyrimethamine, sulfadiazine, leucovorin for 12 months

Answer 265

- If patient can produce sputum, stain and culture it for AFB and perform a skin test - pleural biopsy is indicated if the sputum and pleural effusion are not diagnostic - pleural effusions are typically AFB smear and culture negative - pleural biopsy is much more sensitive for picking up active TB

Answer 266

Cryptosporidium - diagnose by doing a specific stool cryptosporidium antigen test - fecal contamination of public water; chlorine resistant - self-limiting but if it takes long then think of nitazoxanide - looks like round oocysts in stool - avoid public pools and water parks for 2 weeks

Answer 267

Neonatal HSV - localized to the skin, eye, mouth - 60-80% of mothers have no history of infection - fetal scalp monitor sites can be locations for infection as well as eye margins

Answer 268

1-2 days before rash onset to when all of the lesions are crusted over

Answer 269

Tinea Versicolor - Due to Malassezia furfur - skin scraping will show spaghetti and meatballs organisms - treat with topical selenium sulfide or oral itraconazole

Answer 270

- Mother had varicella 5 days before to 2 days after delivery - These infants are at high risk for severe varicella infection! - In this timeframe, newborns get exposed to the virus from the mom but have no protective antibody passed to them

Answer 271

Adenovirus - can cause pharyngoconjunctival fever - Commonly associated with outbreaks at swimming pools in summer camps - can cause epidemic keratoconjunctivitis (painful corneal involvement and preauricular LN enlargement) - during warmer months, can also get HA, non purulent conjunctivitis (associated with swimming), periauricular and cervical LAD, coryza - certain types of adenovirus are associated with hemorrhagic cystitis

Answer 272

Congenital Rubella Syndrome - petechiae and purpura consistent with the "blueberry muffin" baby seen in CMV but this baby also has cataracts - mother was most likely infected in the 1st trimester

Answer 273

CMV most common congenital infection intracranial calcifications, deafness, HSM, petechial rash, thrombocytopenia, hepatitis treat with 6 months oral valgancyclovir for those who are symptomatic +/- CNS disease 10-15% pf asymptomatic will develop SN hearing loss

Answer 274

Give Rabies Immunoglobulin and Vaccine | - give to everyone in the room even if there was no bite (except for in Hawaii)

Answer 275

Complete excision of nodes | - lymphadenitis likely due to mycobacteria

Answer 276

Rubella - presents with fever, malaise, headache, and sore throat for a 1-5 day period before the rash appears - rash usually starts as macules on the face that spread to the neck, trunk, arms, and finally legs - usually the rash is gone from the face by the time it reaches the legs

Answer 277

Hydrops Fetalis and fetal loss - (severe anemia, high output cardiac failure, extra medullary hematopoesis); fetal US would show subcutaneous edema, effusions, ascites slapped cheek on face, lacy rash on trunk/extremities, glove/socks (papular/purpuric gloves/socks syndrome, acute onset and rapidly progressive symmetric and erythematous swelling of the hands and feet, sharply demarcated), not contagious once rash appears can get joint pain and marrow suppression (reduces red cell precursors) - join pain and arthritis are most common manifestations in adults

Answer 278

Mycobacterium marinum - "fish tank bacillus" - causes a nonhealing skin ulceration along lymphatic channels - treat with ethambutol + rifampin OR clarithromycin + rifampin

Answer 279

Test for EBV specific Abs - If IgM-viral capsid antigen (VCA) is positive --> patient has acute primary EBV or very recent past EBV infection - If the EB nuclear antigen (EBNA) is positive, the patient is convalescent or post-EBV - large lymphocyte with pale cytoplasm hugging surround lymphocytes; CBC should show absolute lymphocytosis with > 10% atypical lymphocytes - IgM-VCA for diagnosis (but not always positive in first week of illness or in younger patients)

Answer 280

Measles - 3 C's: cough, coryza, conjunctivitis (with photophobia) - Koplik spots (whitish spots on an erythematous base) appear on the buccal mucosa 2-3 days before the rash appears - rash starts at the hairline and spreads downward - contagious 4 days before and 4 days after rash - MCC of death is bronchoPNA

Answer 281

Herpangia from coxsackie | - herpes simplex lesions are more commonly in the front part of the mouth and extend to the lips

Answer 282

Polio | - In Guillan Barre, paralysis begins distally and spreads proximally

Answer 283

Acute Retroviral HIV Syndrome | - usually 2-4 weeks after initial infection and lasts 1-2 weeks

Answer 284

Endocarditis - 1 of the major criteria (positive culture of viridans strep) and 3 minor criteria (IV drug use, fever, +RF) - Roth spots (retinal hemorrhage), Oslers node (later in course; pea-sized intradermal nodules in the pads of the fingers and toes), Janeway lesions are erythematous blanching lesions on palms/soles (rare in children but seen in adolescents; seen in acute endocarditis) - usually S aureus (this causes ACUTE endocarditis), but think strep viridans in kids

Answer 285

Vancomycin "Red man" syndrome is not an allergy. It occurs because of rapid infusion of vancomycin which results in mast cell degranulation and release of histamine.

Answer 286

Tetracyclines Also contraindicated for pregnant women. Aminoglycosides and chloramphenicol are commonly avoided for nursing mothers as well. They are not an absolute contraindication though. Quinolones are acceptable when nursing but contraindicated in pregnancy

Answer 287

Only given antibiotics for nontyphoidal salmonella diarrhea to children < 3 months of age and older children who are immunocompromised

Answer 288

Yersinia entercolitica - bacteremia more common in children < 1 year of age and in older children with iron overload, especially those who are transfusion dependent

Answer 289

Yersinia pestis - Yersinia pestis causes plagues - Reservoir is wild rodents - infection is transmitted by fleas or by direct contact such as skinning animals - bubonic plague form causes painful, swollen lymph nodes - if not treated, can lead to hypotension, resp distress, organ failure, and death - can also spread in penumonic form - most human cases are in NM, Arizona, Ca, and Colorado

Answer 290

Grandmother - Majority of infections of West Nile are asymptomatic - 20% develop a flu like illness - risk of neuroinvasive disease increases with age

Answer 291

Nothing - she has had more than 3 immunizations in the past and it has been less than 10 years since her last immunization - Human bites: children who have received fewer than 3 tetanus containing vaccines should get both tetanus vaccination and tetanus IG; can treat with Augmentin; only suture closed if clinically uninfected, less than 12 hours old, and not located on the hand and foot

Answer 292

Histoplasmosis - Ohio and Mississippi river valley - Associated with the droppings of chickens and bats

Answer 293

Coccidiomycosis - Valley fever - symptoms present one to three weeks later

Answer 294

Blastomycosis - Chronic pneumonia with dissemination to the skin – most occur in Arkansas, Mississippi, Illinois, Wisconsin, and the states bordering

Answer 295

PCP - caused by pneumocystis jiroveci - dyspnea, nonproductive cough, fever - CXR: bilateral perihilar infiltrates - methenamine silver, toluidine blue O are most commonly used stains to identify the thick-walled cysts of P jiroveci - give immune ppx for people with immunodeficiencies: bactrim, Dapsone, and Atovaquone

Answer 296

Acute Liver Disease and Alcohol Use - Isoniazid is metabolized in the liver and induces cytochrome p450 when mixed with alcohol that leads to toxicity - monitor monthly for liver toxicity

Answer 297

Yes, it is indicated in both children 0 mesles vaccine given to susceptible individuals within 72 hours after exposure provides protection - Vaccine should be considered in all exposed individuals > 12 months of age who have not been vaccinated or have only received 1 dose - Doses received before 12 months do not count (seroconversion)

Answer 298

Infants: AV reentry, can present as CHF Older children: Reentry near the AV node itself, can present as cardiomyopathy multiple P waves for every QRS is atrial flutter treat with adenosine, vagal tone

Answer 299

Congenital abnormalities that affect the aortic arch and its branches and can compress the trachea and esophagus Presents with stridor, wheeze, vomiting Pulmonary sling: left pulm artery comes off the right pulm artery and goes BTWN the esophagus and trachea Barium study shows anterior indentation or the esophagus should do a bronch as well

Answer 300

Presents with stridor secondary to persistence of the right and left 4th embryonal arches Posterior filling defect in esophagus —> right aortic arch and aberrant LSCA

Answer 301

With poor perfusion: - synchronized cardioversion due to hypotension and poor perfusion Otherwise adenosine is usually used Side effects of adenosine: bronchospasm in asthmatics, flushing, transient asystole and AFib

Answer 302

Wide QRS with AV dissociation Can occur as a result of a previous cardiac surgery Treat with IV amiodarone or cardiovert if patient is unstable

Answer 303

A dry nonproductive cough can occur weeks/months after ACEI use, more in women Can also get angioedema, hyperkalemia, AKI

Answer 304

- associated with long QT polymorphous QRS morphologies (twisting qrs axis and morphology) - HR between 150-250 with irregular R-R intervals QT is long if its above 470 in males and 480 in females; biphasic T wave

Answer 305

Rhabdo —> AKI —> HyperK —> bradycardia —> treat with CALCIUM GLUC

Answer 306

- 5.5-6/5 —> peaked T waves - 6.5-8 —> loss of P waves and long QR intervals with ectopic beats >8 —> QRS widening with conduction block and VTach/VFib Treat with CaGluc followed by insulin and glucose to push K back into the cells HypoK has a U wave on EKG (looks like a double hump on the T wave)

Answer 307

Squatting makes the murmur in HCM decrease Valsalva decreases your venous return and makes the HCM murmur louder because there is less volume in the ventricle so the IV septum and mitral leaflets are less separated and there is more outflow obstruction In aortic stenosis, if you increase venous return with squatting, then more blood flows across the stenotic valve and the murmur becomes louder

Answer 308

Decreased vascularity and cyanosis OPEN THE PDA!!!!!!

Answer 309

- Tricuspid Regurgitation is a SEM that goes from the left sternal border to the right sternal border - EKG findings show tall peaked P waves in leads II and V1, right axis deviation, and a RBBB

Answer 310

Pulm HTN secondary to left to right shunt which is converted to a right to left shunt due to pulmonary vascular disease Once you reach pulm HTN, it is likely that surgical correction won’t work ASD, VSD, PDA increases pulmonary blood flow but overtime this obliterates the pulmonary vasculature and leads to high pulmonary vascular resistance Can otherwise try to treat with vasodilators presents with SOB, cyanosis, clubbing, hemoptysis, syncopal episodes, and decreased exercise tolerance Enlarged heart with prominent pulmonary vessels with perihilar vascularity on CXR precordial palpation reveals a right ventricular heave

Answer 311

Do CPR first and then give epinephrine every 3-5 minutes

Answer 312

do a balloon valvuloplasty if severe hypoxia, give prostoglandin to open the PDA

Answer 313

if an infant shows signs of CHF and deep Q waves in the inferior leads (II, III, AVF) —> prompt surgical repair!!!

Answer 314

systolic ejection click heard at apex ***opening click or split first heart sound Patients with bicuspid aortic valve can develop regurgitation, stenosis, endocarditis and will need cardiology follow up for the rest of their lives can develop aortic root dilation and are at risk for aortic root dissection and rupture

Answer 315

Less than age 1 because of peripheral edema

Answer 316

For children between the ages of 2 years and 8 years who have a parent with a total cholesterol of 240 mg/dL (6.22 mmol/L) or greater, children with diabetes or obesity, a family history of early heart attack/stroke/peripheral vascular disease, a fasting lipid profile should be obtained and then repeated after 2 weeks to 3 months otherwise, test children with lipid panel between age 9-11 and 17 to 21 years

Answer 317

Large VSDs usually present at 4-7 weeks with signs of congestive heart failure have a harsh holosystolic murmur heard best at the left sternal border the murmur won’t be present until the pulmonary vascular resistance falls and the right ventricular pressure decreases so this is why you won’t hear it until the newborn appointment with a moderate to large VSD, the decline in pulmonary vascular resistance will be associated with increased pulmonary blood flow and neonates will become symptomatic with pulmonary over circulation at around 1-4 weeks of age treat with a diuretic to decrease pulmonary edema and then allow the baby to feed better and grow

Answer 318

ASDs have right axis deviation secondary to RVH long QRS pulmonary ejection systolic murmur at LUSB with widely fixed and split S2 secondary to delayed closure of the pulmonic valve and due to the fact that there is continuous excess flow of blood into the right atrium, right ventricle across the pulmonary valve can present as exercise intolerance in the 2nd or 3rd decade of life septal defects are seen in fetal alcohol syndrome ASDs if not closed can lead to pulmonary HTN and atrial arrythmias

Answer 319

Often dont appear cyanotic but presents at 2 weeks to 2 months when PVR drops VSD murmur: systolic at LUSB CXR with increased pulmonary flow and cardiomegaly

Answer 320

elevated BP: > 90th %ile to < 95th percentile, >120 to < 129/80 in those greater than 13 years, repeat second measurement in 6 months, check a third time in 6 months and if still high, then send to subspecialty stage 1 HTN (130/80-139/89 in kids > 13 yrs): 90-95%ile +12mmHg HTN, recheck in 1-2 weeks, third measurement within 3 months stage 2 HTN:>95%ile +12 mmHg HTN or greater than 140/90 in kids > 13 years, repeat in 1 week or refer to specialty BP cuff width should be 40% of arm circumference and bladder length should cover 80-100% of circumference of the arm

Answer 321

need to r/o abnormal connection of the pulmonary veins (TAPVR) chest pain at peak exertion is a red flag as well as association with exercise when all pulmonary arteries dont connect to the left atrium and anomalously reconnect back to the right atrium —> this results in right heart enlargement looks like a snowman on an XR obstructive has no venous return and you get pulmonary edema non-obstructive has pulmonary veins that drain into the right atrium —> mixed blood RV —> LV via a PFO or ASD

Answer 322

wide QRS and T wave inversions (V4-V6) autosomal dominant get double pulse in carotids

Answer 323

Atrial flutter tx is amiodarone, digoxin, or cardioversion

Answer 324

Digoxin because it can accelerate an accessory pathway

Answer 325

Plasmapharesis

Answer 326

Confirm with repeat fasting lipids 2 weeks to 3 months later and use average of the two check a TSH to rule it out start statins if LDL is greater than 190 or greater than 160 with 2 risk factors

Answer 327

Worry about post-operative pericarditis with or without effusion 4-6 weeks after cardiac surgery treat with NSAIDs and steroids Viral pericarditis can be secondary to coxsackie

Answer 328

R —> L shunt ``` Truncus Arteriosus Transposition Tetrology of Fallot Tricuspid Atresia TAPVR ```

Answer 329

altered color vision, hyperK, PVCs, nausea, vomiting, abdominal pain PVCs are the most common rhythm disturbance but can also get VFib, atrial tachycardia, and AV node blocks EKG will show flattened or inverted T waves, shortened QT intervals, and ST segment depression treat with IV infusion of Digoxin-specific Fab antibodies

Answer 330

PVC are usually benign in children, especially if they go away with exercise

Answer 331

Fludricort

Answer 332

Major Criteria: carditis, polyarthritis, subcutaneous nodules, chorea, erythema marginatum (doesn’t itch, not red, macular lesions with red borders and pale centers) Minor Criteria: arthralgia, increased PR interval, fever, increased ESR/CRP, hx of rheumatic fever Need 2 major or 1 major/2 minor usually preceded by strep infection Chorea can develop months later - chorea looks like hypotonia, emotional lability, jerky movements facial grimacing, jerking of extremities, irregular contractions of the hand, can’t protrude the tongue, pronator sign…..all disappear with sleep and resolves in 3-4 months

Answer 333

normal in age 2 months and 12 years in VR4 and V1 newborns have upright T waves for 7 days if the T wave does not invert, then this can be a sign of RVH

Answer 334

in a 2 month old over the right precordium reflects a normal right ventricular predominance at this age A 12 year old would have left ventricular predominance

Answer 335

Dopamine and dobutamine are vasodilators and therefore good for fluid unresponsive shock Nitroprusside and milrinone can also vasoldilate Shock in infants is a fluid deficit of 15%; older child is 9%

Answer 336

S3: in early diastole; Results from increased atrial pressure leading to increased flow rates, as seen in congestive heart failure, which is the most common cause of a S3. Associated dilated cardiomyopathy with dilated ventricles also contribute to the sound; when blood enters a ventricle with poor compliance; blood enters a ventricle that has diminished cardiac output You treat dilated cardiomyopathy with diuretics and ACEIs The diuretics decrease the preload and the ACEIs decrease the after load and then the cardiac output improves and the vascular congestion is relieved

Answer 337

25% of children with KD develop coronary artery aneurysms; if KD is diagnosed promptly and treated with IVIG and ASA within the first 10 days of fever onset, then the risk decreases to 5% those at risk of developing aneurysms include late diagnosis and delayed treatment with IVIG Boys < 1 year of age or > 9 years of age Fever > 14 days or failure to respond to dose of IVIG High WBC, low HCT, low albumin, low Na You can now diagnose Kawasakis if > 4 criteria with redness/swelling to hands and 4 days of fever

Answer 338

Peripheral pulmonary stenosis Is is a common benign finding that resolves at about 6 months of age caused by the turbulent flow at the acute angular origin of the small branch pulmonary arteries as they exit the large pulmonary artery

Answer 339

- costochondral beading - widening of epiphyses with thickening of wrists and ankles - bowing: curvature of weight bearing bones - craniotabes: persistently open anterior fontanelle/softening of the skull Breastfed kids who do not receive Vit D supp are susceptible to rickets

Answer 340

Subdural hematoma looks like a crescent pattern that crosses suture lines but does not cross midline

Answer 341

those at risk of aspiration, those receiving endoscopy, heavy metal ingestions or inorganic ions (Li, K, Na, Mag, Ca, Iron, Lead) Charcoal is most effective within an hour of ingestion

Answer 342

Kerosene: hydrocarbon with concern for pneumonitis with ingestion provide supportive care but asymptomatic patients can be watched for 6 hours after which a chest X-ray can be obtained They can be discharged if they remain without symptoms and have a normal chest xray

Answer 343

Alkalai ingestions leads to liquefaction necrosis —> squamous cell carcinoma

Answer 344

Abdomen/Chest/Back: 18% Legs 9% each Arms 4.5% Fluid Deficit = 3ml x weight x (%BSA affected) Given half over first 8 hours and second half over 16 If calculating IVF to give per hour, you have to add MIVF If burns are greater than 10% BSA,, involve the hands, feet, perineum or major joints, or full thickness burns, then send to a burn center

Answer 345

HTN, increased HR, agitation, diaphoresis, myoclonus, tremor, hypertonicity try benzos first to diffuse agitation, tremors then can try cyproheptadine

Answer 346

Iron ingestion usually asymptomatic is less than 20 mg/kg so always get an iron level and electrolytes

Answer 347

TCAs cause arrhythmia, hypoTN, seizures secondary to Na channel blockade example medication includes imipramine that is used for chronic pain and migraines look for widening of the QRS complex, heart block and long QT interval can also get CNS depression resulting in seizures Give activated charcoal if there is no risk for aspiration Remedy: Sodium Bicarbonate

Answer 348

MDMA —> hyperthermia, excessive diaphoresis, and excess secretion of SIADH —> hyponatremia --> seizures

Answer 349

Clonidine toxicity looks like benzos but they respond to pain; treat with atropine and naloxone

Answer 350

yawning, restlessness, rhinorrhea, lacrimation, diarrhea, arthralgia, hypertension, tachycardia abrupt withdrawal can lead to seizures

Answer 351

Drowning has poor prognosis if the patient is greater than age 14, submersion is greater than 5 minutes, resuscitation is greater than 25 minutes, ER resuscitation, or pH < 7.1

Answer 352

normal Pa02 + discoloration of blood + cyanosis —> inhalants (amyl nitrate) —> methemoglobinemia; treat with 02 and if cyanosis doesn’t improve then give methylene blue to convert ferric iron to ferrous sulfate

Answer 353

If CO poisoning with persistent acidemia, consider cyanide as both can happen with smoke inhalation treat cyanide poisoning with hycroxycobalamin (precursor to vitamin B12 or sodium thiosulfate)

Answer 354

hourglass marking; urticarial lesion that lookalike a bulls-eye; can have localized diaphoresis of affected limb; severe cramping that can extend to chest and abdomen; high glucose and LFTs; tx: muscle relaxants

Answer 355

violin-shaped band on dorsum; hemorrhagic vesicle —> necrosis —> eschar; tx: wound care

Answer 356

radial/median nerve damage or brachial artery damage that can lead to no radial pulse; compartment syndrome and ischemia can lead to Volkmann contracture’s; improper reduction can lead to a gunstock deformity at the elbow called cubits virus in which the joint takes the shape of the notched handle of a gun

Answer 357

Don’t give propofol to people with soy allergies (etomidate)

Answer 358

Dont give ketamine in age < 3 months (relatively contraindicated in age < 1 year)

Answer 359

Metaphyseal fractures are always abuse; corner chip or bucket handle fractures posterior rib, scapula, spinal, and sternal fractures are all abuse spiral fractures are not always abuse as are clavicular fractures Straddle injuries usually present with hematoma and shallow lacerations to the perineum and anterior genitalia (labia) but not with penetrating trauma to the hymen or vagina

Answer 360

BV is not always abuse but GC/CT definitely is STIs are found in 8% of girls experiencing sexual abuse

Answer 361

Normal Metaphysis (middle), physic growth plate, epiphysis (end) S: straight across through physis; might not see it immediately on X-ray A: above; fracture through a portion of the physis extending into the metaphysics; if uncomplicated, then can treat with closed reduction and immobilization L: lower; through physis into the metaphysis T: two or through R: rammed together

Answer 362

Medications are metabolized during first order kinetics but kinetics can shift to zero-order when the metabolic pathways are saturated in an overdose —> leads to build up of medication to high concentrations the tolerated

Answer 363

Antidote: - pure anticholinergic: physostigmine - cholinesterase inhibitors: praladoxime - TCAs: Na bicarb - salicylates: Na bicarn - organophosphates: atropine and praladoxime - iron: deferoxamine - opioids: naloxone - clonidine: naloxone - ethylene glycol: fomepizole - ca channel blocker: IV calcium - beta blockers: glucagon

Answer 364

- Cisplatin: hearing loss - Vincristine: peripheral neuropathy - MTX: hepatic injury - Bleomycin: pulmonary fibrosis - Etopiside: leukemia - Cyclophosphamide: infertility - Cranial irradiation: meningioma; patients who receive cranial irradiation at < 3 years of age are expected to have cognitive deficits and will likely be incapable of independent living

Answer 365

Polycythemia is a HCT > 65%. If above 70% —> exchange transfusion

Answer 366

Small bowel lymphoma CF HSP Meckels

Answer 367

Possible contributing factors must be corrected: Core temp > 35, normal MAP/SBP, sedative effect excludd, metabolic intoxication excluded, neuromuscular blockade excluded First exam can be performed 24 hours after CPR or brain injury 2 exams + apnea test performed by different physicians Apnea test is consistent with brain death if no resp effort, final PC02 > 60 or > 20 above baseline EEG, cerebral blood flow study

Answer 368

Beta-thalessemia has no beta-subunit so alpha subunits precipitate into inclusion bodies (heinz bodies) get frontal bossing because of increased marrow space secondary to erythroid hyperplasia HSM secondary to ineffective erythropoiesis

Answer 369

alpha-thal: Hgb Bart’s not compatible with life because the hemoglobin has such a high affinity for the oxygen that it doesn’t deliver it to tissue alpha thalassemia has jaundice secondary to hemolysis

Answer 370

Beta-Thal major aka Cooley anemia HSM, pallor, growth retardation, jaundice

Answer 371

Leukocyte Adhesion Deficiency 1

Answer 372

G6PD has Heinz bodies (red cell inclusions of denatured Hgb); measure enzyme 2-3 weeks after episode to assess for deficiency (enzyme will be deficient before an episode so you won’t get any feedback)

Answer 373

ABO incompatible if mom is O and kid is A or B —> spherocytes

Answer 374

enal failure, anemia, neuro sx, RISK OF THROMBOSIS emergently plasmaspheres and give steroids (triad of HUS plus fever and neuro sx) Antibodies against ADAMTS13 which breaks down vWF results in a high LDH, hyperbilirubinemia, and azotemia

Answer 375

Increases risk for thyroid cancer, heart failure, and pulmonary fibrosis

Answer 376

The most appropriate management of splenic sequestration crisis is to transfuse pRBCs in small aliquots avoid crystalloid boluses of fluid in children with sickle cell disease to prevent high output cardiac failure Side effect of hydroxyurea is leukocyte suppression long bone hyperplasia (where it appears that there is a bone within a bone) can be a result of bone infarcts or multiple episodes of osteomyelitis in sickle cell

Answer 377

Sickle trait: HgA > Hgb S most common complication is renal papillary necrosis

Answer 378

Leukemia usually presents with a hyper cellular marrow, whereas aplastic anemia presents with a hypo cellular marrow the diagnostic test of choice for aplastic anemia is a bone marrow biopsy with measurement of percent cellularity

Answer 379

Kasabach-Merritt Syndrome treat with steroids and propranolol

Answer 380

if it corrects, then there is a def if it doesn’t correct, then something is inhibiting the clotting process

Answer 381

In liver failure, factor 8 can be made in the spleen and lung, but check factor 5

Answer 382

Langerhan Cell Histiocytosis T cell, macrophages, eosinophils with their precursors throughout the body can present as a severe diaper rash that doesn’t respond to other therapies lesions are yellow-brown with crusting lytic lesions in the skull can lead to chronic otitis Associated with Diabetes Insipidus (so patients cannot concentrate their urine resulting in decreased urine osmolarity)

Answer 383

paroxysmal nocturnal hemoglobinuria

Answer 384

prothrombotic, antiphospholipid Ab nonspecific inhibition of clotting factors —> prolonged PTT

Answer 385

Parasite Infection on smear is multiple WBCs with bilobed nuclei and red granules (eosinophils)

Answer 386

point mutation on factor 5 prevents cleavage by activated protein C —> patient is APC resistant Protein C levels are not affected

Answer 387

splenic dysfunction

Answer 388

PT is long when there is Factor 7 deficiency (extrinsic factor) - VitK factors are 10, 9, 7, 2 PTT is long when there is 8, 9, 11, 12, heparin deficit (intrinsic factor), can also be prolonged in anti phospholipid syndrome When both are prolonged think def in 10, 5, 2 or fibrinogen PT, PTT normal —> vWF (treat with DDAVP which releases stores), 13 def

Answer 389

Hemophilia C is factor 11/13 post traumatic 13 is umbilical stump bleeding and ICH

Answer 390

DIC is increased PT, PTT, D Dimer, decreased fibrinogen; schistocytes

Answer 391

Benign Childhood Neutropenia responds to stress caused by autoantibodies to granulocytes diagnosed between 8-11 months and typically lasts 2 years In febrile neutropenia, you should cover for gram positive, negative, and pseudomonas. Cefepime would provide appropriate coverage

Answer 392

5-14 days after exposure mild decrease in platelets predisposes to blood clot formation high rate of skin necrosis if they get in

Answer 393

Warfarin can have increased risk of bleeding with diclofenac as the diclofenac displaces the warfarin making it more active and causing severe bleeding

Answer 394

Protein C and S inactivate factor 5 and 8; deficiency leads to clots FFP has protein C/S and all factors

Answer 395

low reticulocyte count because of ineffective erythropoiesis (this should recover in 3-5 days) RDW is increased ferritin is low because patient has low iron intake so stores are low small RBCs with marked central pallor and a small ring of hemoglobin

Answer 396

Spur cells aka acanthocytes are red cells with irregular projections that are seen in cases of hepatic failure Target cells are seen in significant liver disease, thalassemia, and sickle cell Teardrop cells: myelofibrosis and other infiltrating bone marrow processes

Answer 397

A negative Coombs test rules out 99% of immune hemolytic anemias (ABO or minor group incompatibilities)

Answer 398

Osteosarcoma Codman Triangle: triangular area of new subperiosteal bone that is created when the tumor raises the periosteum away from the bone In the metaphysis

Answer 399

Osteoid Osteoma

Answer 400

Ewing Sarcoma

Answer 401

Osteochondroma

Answer 402

Children with isolated Horner’s Syndrome should undergo careful evaluation for cervical or abdominal masses (rule out neuroblastoma) in trauma patients, consider a carotid artery dissection due to dissection of the internal carotid and vertebral arteries

Answer 403

Neuroblastoma Often presents as metastatic disease (homovanillic and vanillylmandelic acid in urine) mets occur in the long bones, skull, orbits, bone marrow, liver calcifications are usually seen in the mass on imaging a paraneoplastic syndrome syndrome of consisting of intractable secretory diarrhea and abdominal distention due to secretion of VIP may also occur diagnosed often at < 1 year of age

Answer 404

Wilm’s Tumor usually asx and incidentally found WAGR: Wilms, Aniridia, GU abnormalities, Reduced intellectual abilities mets to the lungs

Answer 405

Medulloblastoma

Answer 406

Retinoblastoma: early presentation is strabismus, mid is leukocoria, and late is proptosis, bone pain, and increased ICP

Answer 407

NF associated with optic glioma and meningiom

Answer 408

- Diffuse intrinsic pontine Glioma: enmeshed with the pons and are unresectable - Epyndemomas are at the base of the posterior fossa/top of the spinal cord, don’t invade the brain stem - medulloblastoma is usually in the midline vermis of the cerebellum - intracranial lesions result in brisk/increased deep tendon reflexes

Answer 409

High: Cholesterol > 200, LDL > 130 - repeat fasting lipid in 2 weeks to 3 months and use average - rule out use of AEDs, thiazide diuretics, Accutane, steroids Borderline: Cholesterol 170-199, LDL 110-129 - lifestyle modification for 6 months and then repeat in 6 months, if failed then consider a statin Acceptable: Cholesterol < 170, LDL < 110 If LDL > 250, then consider familial hypercholesterolemia

Answer 410

Every patient gets heart healthy lifestyle Medications only after age 10/post-pubertal LDL > 160 + FH OR 1 high risk factor LDL 130-159, 2 high risk factors, 1 high and 2 moderate, or clinical disease If patient has xanthomas, then perform plasmapharesis

Answer 411

Scimitar Syndrome - congenital pulmonary venolobar syndrome - Pulmonary venous blood from all or part of the right lung returns to the inferior vena cava just above or below the diaphragm - CXR they show the shadow of the veins which appear like a Turkish sword

Answer 412

Allergic bronchopulmonary aspergillosis – occurs in patients with asthma cystic fibrosis -major clues for the recurrent nature with the associated eosinophilia and very high IgE

Answer 413

Idiopathic pulmonary hemosiderosis

Answer 414

Long Acting Reversible Contraception | - either an IUD or Depo shot

Answer 415

Unintentional Injuries like car accidents, drowning, poisoning - suicide is #2 - homicide is #3

Answer 416

Thelarche - mean age of 10 years in Caucasian females - mean age 8-9 in African American females - puberty lasts an average of 4 years for females - mean age of menarche is 12.5 years (usually 2 years after thelarche)

Answer 417

Testicular enlargement - begins at an average age of 11.5 years, 6 months earlier for african american males - The earliest sign of physical puberty in males is an increase in testicular volume from < 4 ml to 4-8 ml occurring at a mean age of 11.6 years + / - 2.1 years - puberty lasts on average 3 years - length of the phallus begins closer to 13 years of age +/- 2 years and is accompanied by increase in testicular volume to 10-15 ml - mean onset of pubic hair is 13.4 years - mean age onset of gynecomastia is 13 years (be aware that cimetidine which can be used to treat gastritis can cause gynecomastia)

Answer 418

>95th percentile | overweight is > 85th percentile

Answer 419

Low Phos - The body has been so poor in energy that refeeding overwhelms conversion of ADP to ATP and results in severely low Phos as phos stores are depleted - Occurs within 1-2 weeks of refeeding - Can cause hemolytic anemia, arrhythmias, heart failure, mental status changes, and sudden death

Answer 420

Pituitary Adenoma - prolactin-secreting adenoma - most do not increase in size - Bromocriptine, a dopamine agonist, often restores menses and decreases prolactin levels to normal

Answer 421

Clear cell Adenocarcinoma | - can present with vaginal bleeding

Answer 422

Prostaglandin production - causes vasoconstriction and muscle contraction - NSAIDs help - Combined OCCPs prevent ovulation and lead to an atrophic endometrium --> decreased menstrual flow --> and decreased prostaglandin release

Answer 423

Observation | - usually resolves within 12 months

Answer 424

Spermatocele - retention cyst of the epididymis containing spermatozoa and located in the efferent ductal system - presents as a smooth, cystic, mobile nodule - separate from the testes - cyst contains nonviable sperm - do not affect fertility or require treatment

Answer 425

Varicoceles - dilated scrotal veins - usually idiopathic but sometimes can be secondary to intraabdominal masses, HSM, and other disorders - surgery is required if testicle becomes hypotrophic so watch for loss of testicular volume or if it fails to grow in puberty

Answer 426

Torsion of the testicular appendage - benign - treat with analgesics - resolves spontaneously in 2-12 days without surgery

Answer 427

Complete Orchiectomy - testicular cancer - potentially coupled with peritoneal lymp node dissection, radiation, and chemo - elevated beta-hCG, AFP, and LDH

Answer 428

Chlamydia - then gonorrhea - can occur with ecoli in unprotected anal intercourse - relief of scrotal pain with elevation - treat with 1 dose of ceftriaxone and doxycycline OR treat with single dose of azithromycin

Answer 429

Haemophilus ducreyi - painful genital ulcer that often develops unilateral inguinal lymphadenitis - causes a chancroid “school of fish” cause they are in parallel clusters - gram-negative coccobacilli in parallel clusters - tx is ceftriaxone or azithro

Answer 430

Klebsiella granulomatis - rare in the US - painLESS, friable, progressive, beefy-red, ulcerative lesion that is extremely vascular and bleeds easily on contact - starts as subcutaneous nodules that progress to ulcers - Donovan bodies on Wright stain - deep-purple intracellular inclusions which are encapsulated gram negative rods

Answer 431

Urethritis - likely due to chlamydia - treat with 1 g oral azithromycin in a single dose or 100 mg doxycycline BID for 7 days

Answer 432

Trichomoniasis - has an increase in pH and +KOH test - intense inflammation, yellow-green frothy discharge, smelly discharge, punctate hemorrhages (strawberry cervix) ``` - Treat with Flagyl 2 g x 1 dose (preferred in pregnancy) OR - Treat with Flagyl 500 mg BID x 7 days OR - Treat with Tinidazole 2 g x 1 dose ``` - avoid alcohol for 24-72 hours to avoid a disulfiram reaction (flushing, palpitations, nausea, and vomiting), no sex for 7 days and treat partner - screen again at 3 months - similar to BV which is treated with 7 days of Flagyl and should be treated in pregnancy to avoid chorio and PROM

Answer 433

Clindamycin and Gentamicin criteria for diagnosis is cervical motion tenderness, uterine tenderness or adnexal tenderness treat inpatient with cefoxitin + doxy and then transition to Doxy for 14 days in outpatient setting after clinical improvement for 24-48 hours if mild to moderate, then can treat in outpatient setting is ceftriaxone and doxycycline +/- Flagyl x 14 days

Answer 434

Yes - first dose at this visit - second dose at 2-6 months - Can start vaccine as early as age 9 - For those > 15 years of age, give three dose series at 0, 1-2 months, and 6 months - only 4 and 9 valent vaccines are given to males

Answer 435

CD8+ T cells - activated by neoplastic antigens and other antigens presented in association with Class I HLAs - important in defense against intracellular organisms/antigens such as viruses and neoplastic cells

Answer 436

IgM - secreted as a pentamer (5 immunoglobulins) - best for complement activation - positive in acute infection

Answer 437

IgA - usually a dimer joined by a J chain - main Ab in breast milk

Answer 438

SCID - look for absent thymus - no circulating lymphocytes - X-linked is the most common, NO BIRTH DEFECTS - very low T/B/NK cells - Newborn screen detects it with t cell receptor excision - these are naive T cells which are low in SCID, worry about infection with pneumocystis

Answer 439

Live attenuated vaccines | - rota, MMR, varicella

Answer 440

Wiskott Aldrich Syndrome - X- linked - Triad: low platelets, eczema, susceptibility to encapsulated and opportunistic infections

Answer 441

Ataxia-Telangiectasia - Autosomal recessive - elevated AFP - telangiectasias on bulbar conjunctiva, ears, nares; recurrent sinopulm infections

Answer 442

Bloom Syndrome - chromosomal instability - def of DNA Ligase I - high association with leukemia - congenital telangiectatic erythema - telangiectasias and photosensitivity - growth deficiency with primary hypogonadism - increased risk of neoplasm - long limbs/face with a high pitched voice - have decreased levels of IgA, IgM, and sometimes IgG that increases their risk of infection

Answer 443

``` 22q11 deletion - DiGeorge Syndrome - can also have hypoparathyroidism - CATCH 22 (Cleft palate, Absent Thymus, Congenital Heart disease, on 22nd chromosome) ```

Answer 444

X-linked Bruton Agammaglobulinemia - XLA - strictly in males - recurrent infections in absent to low IgG leels - mutation in BTK gene that encodes for Bruton tyrosine kinase which is needed for B cell development - healthy until 4-6 months of age at which time they are no longer getting IgG from their mother - normal T cell immunity - recurrent infection with giardia, campylobacter - treat with month IVIG and no liver virus vaccines

Answer 445

Common Variable Immunodeficiency - recurrent sinopulm infections with encapsulaed bacteria - def of at least two immunoglobulins - poor immunoglobulin function - presents in teens and 20s - B cells recognize the antigen but cannot make plasma cells - nodular lymphoid hyperplasia and splenomegaly - PANhypogammaglobulinemia leads to recurrent infections, giardia, unexplained bronchiectasis - tx: monthly IVIG

Answer 446

IgM is high or normal IgG and IgA are low - syndrome is X-lined and AR - high risk for malignancy

Answer 447

EBV - can cause fulminant hepatitis, Bcell lymphoma, agranulocytosis, aplastic anemia, or acquired hypogammaglobulinemia - EBV triggers a polyclonal expansion of T and B cells - most common causes of death are hepatic necrosis and bone marrow failure due to natural killer cand cytotoxic T cells infiltrating these organs

Answer 448

No therapy - can consider IVIG in those with recurrent infections or low IgG levels - Consider antibiotic ppx for those with frequent respiratory or ear infections - Most have normal IgG levels by age 3-4

Answer 449

Leukocyte Adhesion Defect Type 1 (LAD1) - can also present with severe gingivitis - patients have a baseline leukocytosis because they lack cluster of CD18 which is needed for cells to leave the circulation and enter tissues to fight off infection - so leukocytes are stuck in the circulation and cannot get out to do their job - severe infections without pus, swelling erythema - neutrophils cannot reach infection sites so large number of circulating neutrophils - delayed umbilical separation which can turn into nec fasc - recurrent facial and perianal cellulitis, chronic gingivitis - overall poor wound healing - death at age 2-5 unless BMT

Answer 450

Hyper-IgE Syndrome (Job Syndrome) - recurrent infections, “cold abscesses,” lacking signs of inflammation because the neutrophils cannot enter tissue - secondary to S AUREUS - asymmetric face and rows of teeth - signal transducer and activatory of transcription 3 (STAT3 deficiency) that results in multiple system involvement - patients also have post-infection pulmonary cysts (pneumatoceles) and 2 rows of teeth due to delayed dental exfoliation - initially they have elevated IgE levels but they may fall to normal levels later in life - DO NOT need an elevated IgE level for diagnosis

Answer 451

Chronic Granulomatous Disease - X-linked - presents as chronic and recurrent organ and skin abscesses - nitroblue tetrazolium reduction can be used to diagnose - patients cannot generate the superoxide "respiratory burst" - caused by a catalase positive organism like staph and aspergillus

Answer 452

C2 deficiency - increased risk of rheumatoid diseases - most common in north american caucasians - recurrent pyogenic infections - seen often in patients with SLE - increased risk of infection with S pneumo, N meningiditis, and Hflu

Answer 453

Hereditary Angioedema - AD - complement disorder - defect in C1 inhibitor enzyme function with secondarily reduced C4 levels - screen first by checking C4 levels - if C1 levels are low then this is type 1 HAE - if C1 level is normal, it is due to nonfunctioning C1-INH enzyme, type II HAE

Answer 454

IgE - occurs one hour after exposure - mast cell degranulation is the cause of the symptoms

Answer 455

Type 3 - immune complex (antibody-antigen) mediated - seen in immunoglobulin autoimmune disease and in reaction to drugs

Answer 456

Type 4: Cell-Mediated Hypersensitivity - delayed-type hypersensitivity - occurs due to exposure to a previously known antigen - TB skin testing is a common example

Answer 457

Latex - because of repeated exposure to latex from numerous visits - latex allergy is due to sensitization to proteins - primarily hevein - cross-reactivity can occur with papaya, kiwi, banana

Answer 458

Serum Sickness - does not require prior sensitization - Type 3 hypersensitivity reaction - Takes 6-12 days for the reaction to occur - Treatment is to stop offending agent - think ceflacor or amoxicillin - wheals with purple discoloration

Answer 459

Positive and Negative Predictive values - If the disease is very prevalent, then a positive test is likely to be a true positive - If a disease is very rare, a positive test is less likely to be a true positive

Answer 460

The occurrence of new cases of a disease within a specified period of time - Also the probability that a person develops that disease during that period of time - (total # of new cases of a disease)/(total # tested during a specific time)

Answer 461

Sensitivity - how well it correctly identifies those who have the disease = TP/(TP + FN) = TP/ #diseased - tests that are highly sensitive will have a low false-negative rate - SNOUT: SeNsitive tests help rule OUT disease

Answer 462

Specificity - highly specific tests convey with certainty that a positive result means that a actually has the disease - SPIN: SPecific tests help rule IN a disease - because the false-positive rate is so low = TN/ (TN+FP) = TN/(#not diseased)

Answer 463

Percent of people in a population who have the disease at any given point in time = #diseased/total in studied population - indicates how widespread a particular disease is

Answer 464

Positive Predictive Value - Probability of disease in a patient with a positive test - Takes into consideration number of true and false positives - Reflects prevalence - Percentage of positive tests that are actually true positives so the higher the number the better = TP/(TP+FP)

Answer 465

Cohort and Case-Control Studies - attempt to correlate exposures with outcomes - Case Control coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls - Cohort: follow a group of people prospectively over time to see which exposures cause disease - an observational study that coparents prospectively over time a group of subjects with a particular treatment, exposure, or condition vs a group of unexposed subjects - allows for evaluation of multiple potential effects over time for a particular exposure - did the exposure cause the effect or were there other factors unaccounted for? - Case-Control: comparing people with the disease to those without the disease to identify relevant risk factors - coparents subjects with a condition and patients without the condition and retrospectively analyzes whether risk factors are more common in the cases or controls

Answer 466

Type 1 and 2 Errors - Tye 1 Error: concluding there is a difference between groups or outcomes (rejecting null hypothesis) when there is not. Exposed by investigating the p value - Type 2 Error: concluding there is not difference between groups and outcomes (accepting the null hypothesis or failing to reject the null hypothesis) when one actually exists. Exposed by investigating the power of a study

Answer 467

Aplasia Cutis - congenital absence of skin that usually occurs only in a small, localized area mostly on the scalp - 20% will have skull abnormalities - If it is in multiple places on the scalp, check for Trisomy 13

Answer 468

Eosinophils - self-limited in the first few days of life - rarely present at birth

Answer 469

Neutrophils - After the pustules rupture, the skin develops scaly, hyperpigmented macules of uniform size that pay persist for months before resolving on its own

Answer 470

PHACES Syndrome - P: posterior fossa abnormalities (Dandy-Walker) - H: hemangioma - A: arterial abnormalities - C: cardiac defects (coarct) - E: eye abnormalities (microphthalmia) - S: sternal defects/supraumbilical raphe

Answer 471

Sturge-Weber Syndrome - ipsilateral cerebral vascular malformation that can lead to seizures, intellectual disability, glaucoma - facial port wine stains, associated with leptomeningeal angiomatosis - risk of seizures and glaucoma - rash is along the 1st and 2nd part of the trigeminal nerve - seizures usually affect the opposite side of the body compared to the rash - dilation of ipsilateral ventricle, calcification, and cerebral atrophy

Answer 472

Klippel-Trenaunay Syndrome - presents with vascular malformation (often mixed capillary-venous-lymphatic) of ex extremity, with soft tissue and/or limb overgrowth and varicose veins

Answer 473

Melanoma | - highest risk during the first 5 years of life

Answer 474

Ocular and Cutaneous Melanoma - most common in Af Am or Asian infants - presents as unilateral, irregularly speckled areas of bluish-gray discoloration in the periorbital area - malignant transformation is rare

Answer 475

Ichthyosis Vulgaris - first manifests at 3 months of age - treatment is avoidance of irritant and use of emollients

Answer 476

Undescended Testes with Underdeveloped Penis and Scrotum - during the first few months of life - scales are more pronounced compared to AD form - trunk is involved, NOT palms and soles - caused by absence of microsomal enzyme steroid sulfatase - increased risk of testicular cancer

Answer 477

Ovarian Tumors - AD - caused by mutations of the "patched" gene that controls cell growth and patterning - develop basal cell carcinoma, ovarian tumors in childhood because of defect in tumor suppression

Answer 478

Incontinentia Pigmenti - usually lethal in males - presents as a rash on a healthy baby girl - will most be asked about blistering and dental findings

Answer 479

Hypohidrotic Ectodermal Dysplasia - X-linked recessive - most common form of extodermal dysplasia

Answer 480

Pityriasis Alba

Answer 481

Langerhans Cell Histiocytosis - consider if atrophy, ulceration, or petechiae are present - send for skin biopsy

Answer 482

No | - it is spread by contact with the plant resin

Answer 483

Erythema Nodosum - associated with sarcoidosis - most identifiable cause is streptococcal pharyngitis

Answer 484

Zinc - genetic form is AR due to decreased absorption in the intestine - cutaneous manifestations include red, scaly patches in the periorifical distribution (mouth, anus) - patients also present with alopecia, FTT, and diarrhea

Answer 485

Erythrasma - common in adolescents - especially in obese - treat with oral or topical erythromycin +/- an azole antifungal cream

Answer 486

Granuloma Annulare (GA) - benign skin disorder with unknown cause - appears like ringworm but there is no scale on the surface of the lesion as you would see in ringworm - asymptomatic and self-limited

Answer 487

Pityriasis Rosea - common in children and adolescents - often presents with the herald patch 1-2 weeks before the pruritic rash appears on the trunk - christmas tree rash

Answer 488

Septooptic Dysplasia (SOD) or de Morsier Syndrome - commonly involves the hypothalamic- pituitary axis - can affect the anterior, posterior, or both axes - associated with an abnormality in transcription factor HESX1 - isolated growth hormone deficiency or panhypopit including micropenis and direct hyperbilirubinemia

Answer 489

Growth Hormone Def | - Associated with midfacial anomalies

Answer 490

Growth Hormone Def - Congenital hypopituitarism generally includes GHD along with 1 or more of the other 5 hormones produced in the anterior pituitary

Answer 491

Craniopharyngioma - due to its location in the intrasellar space, craniopharyngioma is the most common tumor to destroy the hypothalamus, pituitary, or its stalk and cause pituitary hormone deficiency - radiation or previous surgery can also cause problems

Answer 492

Growth Hormone Deficiency - Microphallus is a clue in males - other clues include hypoglycemia and a direct hyperbilirubinemia

Answer 493

Constitutional growth delay - normal growth velocity, delayed bone age, and family history of delayed puberty - In genetic growth delay, bone age is consistent with chronologic age (genetically short)

Answer 494

Genetic Short Stature

Answer 495

Central DI - this is an ADH deficiency - this treatment increases urine osmolality and decreases serum osmolality - nephrogenic DI is deficient in the ADH receptor

Answer 496

Sotos Syndrome (Cerebral Gigantism) - mutation in NSD1 genes located on 5q35 - GH levels are normal - Grow to normal adult heights - Puberty occurs at the normal time or slightly early

Answer 497

Prolactinoma - most common anterior pituitary tumor in adolescents - MRI is best for diagnosis - visual defects common - hypothyroidism with high TSH can mimic prolactinoma (because it can cause galactorrhea)

Answer 498

Beckwith-Wiedemann Syndrome - at risk for Wilms tumor, adrenocortical carcinoma, and hepatoblastoma - need q3 months abdominal and renal US until 8 years of age - follow AFPs until 6 years of age

Answer 499

Gonadotropin-Releasing Hormone | - Hypothalamic pulsatile GnRH secretion regulates the production of LH and FSH

Answer 500

Hypothalamic Hamartoma - consists of ectopic neural tissue that contains GnRH-secretory neurons and functions as an accessory GnRH pulse generator - On MRI, it appears as a small, pedunculated mass attached to the floor of the 3rd ventricle - CPP can also be caused by seminomas, astrocytomas, tuberous sclerosis

Answer 501

McCune-Albright Syndrome - presents with vaginal bleeding (menarche before puberty) - markedly enlarged ovaries and cysts - evidence of autonomous endocrine hyperfunction due to a missense mutation in the alpha subunit of the stimulatory G protein - activation of TSH, FSH, LH, GHRH, and ACTH receptors triad: precocious puberty, irregular cafe au lait spots, fibrous dysplasia of long bones (asymmetric growth on one side) leads to adrenal hyperplasia, cushing syndrome, hyperthyroidism, and gigantism

Answer 502

Premature Thelarche - benign condition that could be the first true sign of true precocious puberty - breast tissue may last 3-5 years but can regress during this time

Answer 503

Thyroxine-Binding Globulin Deficiency - causes falsely low total T4 but has a normal FT4 and a normal TSH - these kids are euthyroid and do not require synthroid or further follow up

Answer 504

OCPs - they are increasing her estrogen levels which increases her TBG resulting in elevated T4 but still a normal FT4 - because she is euthyroid, her TSH is normal as well

Answer 505

Thyroid dysgenesis treatment is with 10-15 mic/kg per day of levothyroxine; should be started at 2 weeks of age

Answer 506

Congenital Hypothyroidism - enlarged posterior fontanelle is the most common finding - another finding is lack of distal femoral epiphysis - without therapy, can progress to developmental delay

Answer 507

Acquired Hypothyroidism - more common than congenital - girls > boys - most common cause is autoimmune thyroiditis - FT4 is low and the pituitary is trying to stimulate it to no avail with TSH, which is high Anti-thyroglobulin and anti-thyroperoxidase Hashimoto Disease If you see someone with DM and then they get hypothyroidism think Schmidt syndrome kids with hypothyroid can have anemia

Answer 508

Schmidt Syndrome - Autoimmune Polyglandular Syndrome - Thyroid disease + Addison's + Type 1 DM - Associated with HLA DR3 and DR4 - more common in girls - type 1 is adrenal and mucocutaneous candidiasis

Answer 509

Autoimmune Thyroid Disease - Hashimoto - usually presents 5 years after diagnosis of T1DM

Answer 510

Graves Disease - most common cause of thyrotoxicosis in children - frequently have cardiac signs, tremor, excessive sweating, and rapid tendon reflex relaxation - thyroid size is variable - measure thyrotropic receptor antibodies - autoimmune disease caused by functional antibodies that stimulate the TSH receptor - results in increased thyroid hormone production and the gland enlarges in size tx: methimazole (SE: agranulocytosis), thyroid ablation, remove thyroid can use iodine, prednisone, propranolol for short term Neonatal Graves can occur from transplacental antibodies; treat prenatally with propylthiauracil

Answer 511

send T4, TSH, and get thyroid US - much more likely to be cancerous in children - Check TSH (if suppressed, do an uptake scan to evaluate for hot nodules) - if nodule is hyperfunctioning, do FNA - If FNA is benign, repeat US in 6-12 months. If suspicious, perform surgery Any thyroid nodule > 1.5cm should get an FNA

Answer 512

Vit D Def Rickets - from limited sun exposure or babies being breastfed by Vitamin D def mothers - differs from familial hypophosphatemic rickets, the most common form in the US, which is a kidney disease where the PTH is normal (phos wasting disease due to decreased renal tubular absorption of phos)

Answer 513

Hypercalcemia - immobilization results in bone resorption - rule out hyperparathyroidism - will have reduced phos levels and elevated PTH - SHORT QT INTERVALS

Answer 514

Addison's Disease - most common cause of adrenal insufficiency - caused by autoimmune destruction of the adrenal cortex with antiadrenal Ab detected in the plasma - increased pigmentation is due to excess proopiomelanocortin which is a precursor to ACTH and melanocyte-stim hormone - the low cortisol causes an increase in POMC - salt craving***

Answer 515

Very high levels of very long-chain fatty acids - due to lack of breakdown in peroxisomes - this condition has demyelination of the CNS Increased ACTH/Low cortisol —> low cortisol adoreno: cortisol def —> increased ACTH —> hyperpigmentation leuko: neuro issues dur to accumulation of white matter (LCFA) —> outburst, slurred speech, ataxia ABCD1 gene loss of milestones abnormal MRI findings BMT is only cure

Answer 516

21 Hydroxylase Deficiency - most common cause of congenital adrenal hyperplasia - the presentation is of an XY infant presenting in adrenal crisis at 2 weeks of age - test for 17-hydroxyprogesterone which is a metabolite of this - no palpable gonads and a uterus are consistent with a virilized female - results in an elevated ACTH which makes the adrenal gland make more androgens (high testosterone) - excess androgen exposure leads to virilization - males with this deficiency have normal male genitalia and usually present with salt-wasting crisis - cortisol level would be low

Answer 517

11 beta hydroxylase deficiency - differentiated from 21-OH def by the absence of salt wasting and the presence of HTN - HTN is a result of elevation of 11-deoxycorticosterone which is like aldosterone

Answer 518

Carney Complex | - AD

Answer 519

24 hour free cortisol - should be elevated - if diagnosis is unclear, do a low dose dexamethasone suppression test. - Give dexamethasone at 11 pm and the following morning at 8am - Patients with cortisol level < 5 do not have Cushing syndrome - caused by exogenous steroids, cushings disease (too much ACTH), adrenal adenoma, or ectopic ACTH production - truncal obesity, acne, hirsutism, striae, weak bones, HTN - tx: remove excess steroids, surgical removal of adenomas

Answer 520

Primary Hyperaldosteronism - rare in children - overproduction of aldosterone that is independent of the renin-angiotensin system - HTN + HypoK + low plasma renin

Answer 521

Bartter Syndrome - form of hyperaldosteronism with increased renin secretion but without hypertension - also at risk for kidney stones due to hypercalciuria Lasix poisoning with polyhydramnios and hearing loss

Answer 522

Liddle Syndrome - AD - problem is dysregulation of the epithelial sodium channel (ENaC) - leads to a high number of the channels being in the collecting duct - causes a hyperaldosterone effect

Answer 523

Pheochromocytoma - catecholamine-secreting tumor - originates from chromaffin cells (adrenal medulla) - they have a good appetite but will have growth failure

Answer 524

Noonan Syndrome - The pulmonary stenosis differentiates this from Turner's syndrome - Turner's kids have aortic valve problems - Kids with noonan's have intellectual disability which is not seen in Turner's - Noonan's has a normal karyotype

Answer 525

Kleinfelter Syndrome - 47XXY - generally not diagnosed until puberty when penis and testes size do not develop normally - intellectual and psychiatric problems occur early - normal pubic hair development because the adrenal gland is fine - testes do not fully develop because the seminiferous tubules do not form - decreased testicular volume due to low testosterone - gynecomastia - increased risk of breast cancer

Answer 526

Kallmann Syndrome - isolated deficiency of gonadotropin and affects the hypothalamus (deficiency of GnRH) instead of the pituitary X-linked can’t smell; decreased testicular volume and minimal body hair red/green colorblind, cleft lip/palate (midline defect), mirror movements decreased LH and/or FSH secondary to decreased GnRH midline defects so the pituitary doesn’t work results in less testosterone and estradiol

Answer 527

Deletion of the q11-13 region of Chromosome 15 from the father - Prader-Willi - if the same chromosomal deletion comes from the mother, its Angelman Syndrome - poor suck early on and then hyperphagia - hypogonadism - frequent tempers, OCD, skin picking

Answer 528

Turner Syndrome - can get thyroid disease - firm, nontender, nodular thyroid - hyper convex nails - cubitus valgus of the elbow - has continuously elevated LH and FSH because of primary hypogonadism

Answer 529

Nonstenoic Bicuspid Aortic Valve - Turner Syndrome - the only finding found in all turner's is short stature - this cardiac finding is found in 50% of kids with Turner's - 20% have a coarctation - risk of aortic dissection so get an echo every 5-10 years

Answer 530

Triple X Syndrome (47, XXX) - due to maternal meiotic nondisjunction - phenotypically, girls with this disorder are normal females and not recognized routinely in infancy - by 2 years of age, speech and language delays manifest - poor coordination, poor academic performance, immature behavior - the girls are tall and gangly

Answer 531

PCOS - described as irregular menses - hyperandrogenism - high testosterone - elevated LH:FSH ratio - insulin resistance - cause of decreased endogenous progesterone with normal estrogen levels - circulating excess androgens interfere with normal hypothalamic-pituitary axis - causes an absence of the mid cycle leutinizing hormone surge, anovulation, and absence of the normal progestin surge - without a progestin surge and the progestin decline —> normal withdrawal bleeding won’t occur - unopposed estrogen leads to thickened lining - if no bleeding after progesterone challenge for ten days then there is likely an insufficient uterine lining (decreased serum estrogen)

Answer 532

Clitoral Enlargement - CAH in the mom or the baby is the most common cause of 46 XX - if the adrenla exposure was during weeks 8-13, the baby can have labial fusion - continual androgen exposure from 8 weeks of gestation to birth causes clitoral enlargement AND labial fusion

Answer 533

Denys-Drash Syndrome - disorder of sexual differential - occurs in 46 XY inidivuals - can have Wilms tumor as well - total deficiency of testicular function is so complete that Mullerian ducts are found

Answer 534

``` Swyer Syndrome (XY Pure Gonadal Dysgenesis) - dysgenesis results in an absence of Leydig cells - so there is no testosterone to support the Wolddian structures - also, the sertoli cells do not form so the mullerian structures develop most cases are due to a mutation in the SRY gene but the Y chromosome is cytogenitically normal ```

Answer 535

Smith-Lemli-Opitz Syndrome - mutation is one of the enzymes necessary for cholesterol synthesis - genotypic males have genital ambiguity - no mullerian ducts

Answer 536

Urine albumin excretion | - treat with ACE inhibitors or ARBs

Answer 537

Donohue Syndrome - aka lephrechaunism - remember the profound insulin resistance - its caused by a mutation or deletion of both insulin receptor genes

Answer 538

Laurence-Moon and Bardet-Biedl Syndromes | - REMEMBER retinitis pigmentosa with hypogonadism

Answer 539

Autosomal Dominant - contain only one copy of an altered allele - heterozygous parents can pass along disorder by 50% - NF1

Answer 540

Autosomal Recessive - requires 2 copies of an altered allele to produce a disease phenotype - CF

Answer 541

X-linked recessive generally affect males only Hemophilia A Duchenne/Becker muscular dystrophy - proximal muscles, increased CPK - restrictive pattern on PFTs with severe scoliosis > 90 degrees —> for pulmonale on ECHO

Answer 542

Fragile X Syndrome - unstable CGG repeat in the FMR1 gene on the X chromosome - hyper extensible joints, self-abusive behaviors - long face, large ears, macro-orchidism - premature ovarian insufficiency in women

Answer 543

Trisomy 18 - most common cardiac anomaly is VSD - overlapped clenched fingers, rocker bottom feet

Answer 544

Trisomy 13 - median survival is 2.5 days - remember midline defects! - small head, holoprosecephaly, scalp ulceration, iris coloboma, cleft lip

Answer 545

4p deletion - Wolf-Hirschhorn Syndrome - more common in girls - ocular hypertelorism, prominent glabella, and frontal bossing --> Greek helmet - unusual facies, growth deficiency, hearing loss, cardiac defects, seizures - “Greek warrior” helmet nose, high anterior hairline, high-arched eyebrows, small ears with bilateral pits

Answer 546

Cri-du-chat Syndrome | - 5p deletion

Answer 547

18q deletion | - de Grouchy Syndrome

Answer 548

Angelman Syndrome - jerky ataxic movements are classic (happy puppet sundrome) - from the mother - prader-willi is from father - 15q11-13 deletion - seizures, ataxia, wide gait, no speech

Answer 549

Prader-Willi - paternal derived - 15q11-13 deletion

Answer 550

Williams Syndrome - 7q11.23 deletion - missing the elastin gene - ***most common cardiac anomaly is supravalvular aortic stenosis - elastin deletion on 7q11 - intelectual disability, short stature, friendly - (get cardiology clearance before anesthesia to prevent coronary steel syndrome) - risk of very elevated calcium - can also get renal artery stenosis

Answer 551

``` Wilms Tumor Aniridia GU Malformation Mental Retardation - 11p deletion - increased risk of gonadoblastoma - ***PAX6 and Wilms Tumor 1 gene (WT1) are the genes missing ```

Answer 552

Pierre Robin Sequence | - presents with a primary embryologic defect of the mandible which leads to displacement of the tongue

Answer 553

Amniotic Band Sequence

Answer 554

Branchio-Oto-Renal Syndrome | - AD

Answer 555

Treacher-Collins AD, underdevelopment of the zygomatic and mandibular bones, migro/retrognathia, external ear abnormalities, coloboma, absence of lower eyelashes; often have conductive hearing loss

Answer 556

Saggital Synostosis - "scaphocephaly" fusion of midline saggital suture

Answer 557

Achondroplasia - AD - de novo mutation of FGFR3 on chromosome 4 - trident hands - spinal cord compression is a problem - disproportionate short stature, long bone shortening in the humerus and femur, short fingers and toes, scoliosis and lordosis, macrocephaly, frontal bossing - ***trident hand - gross motor delays

Answer 558

Marfan Syndrome - AD - homocysteinuria has a lower IQ and lens - fibrillin mutation - tall, precuts deformity, scoliosis - MVP and dilation of the ascending aorta (usually prescribed beta blockers to prevent progression) - lens dislocation/IQ upwards - Ghent criteria is used for diagnosis. Need 2 out of 3: ectopia lentis, aortic dilation/dissection, family history

Answer 559

Ehlers-Danlos | - AD

Answer 560

NF1 - AD, chrom 17 needs 2 of the following: > 6 cafe au lait spots that are bigger than 5 mm, >2 neurofibromas, freckling in the axilla or inguinal region (called “crowe sign”), >2 lisch nodules (iris hamartomas), optic gliomas, bone lesion (either thinning of bone cortex or sphenoid wing dysplasia) - congenital psuedoarthrosis (false joint) - bowing of the tibia —> thinning of the cortex —> pathologic fracture - when you see these patients in clinic, assess for HTN as they can get neurofibromas in the renal artery, check visual acuity and proptosis, careful neuro exam

Answer 561

NF2 - AD - bilateral vestibular schwannomas that lead to hearing loss and tinnitus - mean age of presentation is age 30 - unilateral with meningioma, glioma, schwannoma, juvenile cataracts (first sign can be posterior sub capsular lens opacity) - no risk for malignant transformation unlike NF1

Answer 562

- Immediate reaction - IgE-mediated activation of mast cells and basophils - ex. asthma, allergic rhinitis, anaphylaxis

Answer 563

- Antibody mediated - IgM or IgG - ex. hemolytic anemia, graves disease, myasthenia gravis

Answer 564

- Immune- complex mediated - IgG and complement deposition - ex. SLE, serum sickness, glomerulonephritis

Answer 565

- Delayed - T cell activation - ex. contact dermatitis, PPD testing

Answer 566

Eczema Wiskott-Aldrich Syndrome Hodgkin Disease Bullous Pemphigoid

Answer 567

``` Varies with changes in position Short duration No clicks or gallops Non-radiating Soft Systolic ```

Answer 568

Cardiac Rhabdomyomas | - regress over time

Answer 569

Tuberous Sclerosis - always examine kids with infantile spasms with a wood's lamp - Tuberous Sclerosis associated with glial tumors and ependymomas

Answer 570

von Hippel-Lindau Syndrome - AD - multisystem cancer disorder - most classic presentation is a cerebellar hemangioblastoma or retinal angioma by 10 years of age

Answer 571

Waardenburg Syndrome I - AD - associated with Hirschspring Disease - affected girls can be born without a vagina - PAX3 mutation - congenital sensorineural hearing loss, heterochromia/hair hypo pigmentation (white forelock), displacement of medial canthi, patterned area of depigmentation - remember issues with hearing loss and pigmentation

Answer 572

Apert Syndrome - AD - "single nails" is a common finding - 2nd-4th digits are fused with a common nail bed - mitten hand syndactyly, craniosynostosis, sever acne in adolescence, cleft defects Crouzon: craniosynostosis with ocular proptosis (no syndactyly)

Answer 573

Cleidocranial Dysostosis - delayed eruption of permanent teeth - delayed closure of fontanelle, no clavicles

Answer 574

Fanconi Anemia | - AR

Answer 575

Cornelia De Lange Syndrome - AD - generalized hirsutism, unibrow, thin philtrum, downward turned lip - heart and limb abnormalities - can have cryptochordism and bocornuate uterus - intellectual delay

Answer 576

Sotos Syndrome - AD - NSD1 gene

Answer 577

Beckwith- Wiedemann Syndrome - AD - Remember that there is a risk of Wilm's tumor!

Answer 578

Proteus Syndrome - classic for accelerated growth - has lipomas and nevi

Answer 579

Noonan Syndrome - AD - pulmonic valve stenosis - crescendo-decrescendo systolic murmur with a palpable thrill at the 2nd left intercostal space - short stature with webbed neck - also has hypertelorism (widely spaced eyes) which is not usually seen in turners syndrome - can happen in males and females - can bleed from factor 11 deficiency - either 46XX or 46 XY

Answer 580

``` Vertebral defects Anal atresia Cardiac defects TE Fistula Renal anomalies Limb abnormalities ``` need at 3 for diagnosis

Answer 581

``` Coloboma congenital Heart defects choanal Atresia growth and mental Retardation GU anomalies Ear anomalies ``` Need 4 out of 6 and 2 of them must be coloboma and chonae atresia

Answer 582

CT or MRI of the Head - due to genetic disorder or infection - structural abnormalities are best seen on MRI - Abd US should be used for macrocephaly (enlargement of subarachnoid space is benign)

Answer 583

3-4 months of age

Answer 584

4 months of age | - head lag when pulled to sitting at this age is a red flag

Answer 585

3 years 3-4 years 4 years 5 years

Answer 586

3 years old!!! At this age they can balance on one foot for 2-3 seconds and use 3 word sentences. 2 year old: run well and climb up and down the stairs, 2 feet each step. 4 year olds hop on one foot and use 4 word sentences 5 year olds can skip

Answer 587

Moro, Rooting, Stepping, Sucking, and Hand Grasp (palmar) Crossed adductor disappears at 7 months Toe grasp disappears at 8-15 months Babinski disappears at 9-12 months Free Fall/Parachute APPEARS at 9 months

Answer 588

1 month of age Most kids can lift their heads to 45 degrees at 2 months of age Head lag when pulled to sitting persists until 4 months Social smile presents at 1-2 months First coo is at 2-3 months Palmar grasp disappears at 2-3 months

Answer 589

6 months of age - this is the age that separation anxiety begins - infants begin to smile in a mirror at 4 months of age - babbling begins at 6 months (babbling with more than one syllable starts at 9 months) - object tracking to 180 degrees should be present at 2 months - they can track an object through a fall and search for a partially hidden toy by 6 months of age

Answer 590

9 months of age - thumb grasp of a cube occurs at 6-8 months - pincer grasp occurs at 9-12 months - parachute reflex is first observed at 6-9 months - most 9 month olds can pull to stand but quickly fall

Answer 591

9 months - separation anxiety begins at 6 months of age - most 9 month olds can say mama and dada

Answer 592

``` 11-13 months - pull to stand at 9 months walk holding furniture at 11 months - walk without help at 13 months - walk well at 15 months - mature cube grasp with finger and thumb at 12 months ```

Answer 593

12 months of age - separation anxiety begins at 6 months and lasts til about 12 months - mama and dada at 9 months - children first learn to wave bye at 10 months - show toys to others by 11 months - understand 1 step commands at 15 months

Answer 594

18 months of age - can build a tower of 4 cubes - cannot run or go up stairs at this age - can use a cup at this age but not a spoon - most begin to scribble by 15-18 months

Answer 595

18 months of age - understand 50-100 words and follow simple commands - pointing with words is very common - 2 word sentences at this age - parallel play

Answer 596

2 years of age - independently walk up and down stairs using both feet on each step - can stack 6 blocks

Answer 597

24 months of age - can say 100-200 words - 6 body parts - 2 word sentences - prepositions begin at 30 months - kids dress themselves at age 3

Answer 598

4 years old

Answer 599

6 years of age

Answer 600

Yolk Sac - at 2 weeks of gestation - at 8 weeks, rbc formation shifts to the liver, increases and peaks at 5 months - at 5 months, the bone marrow takes over

Answer 601

- Moves head from side to side - Regards faces - Alerts to bell - head lag

Answer 602

- Track past midline - Smiles responsively - Cooing - lifts head up to chest (45 degrees) when prone - regards faces - 3 month old opens hands, swiping objects

Answer 603

- Rolls front to back - No head lag - Brings hands to midline and objects to mouth (parents think they are teething) - lifts head to 90 degrees when prone - chest up, supported on arms - orients to voice - Laughs!

Answer 604

- Sits without support - Transfers objects from one hand to another - Begins to develop object permanence so they start to have stranger danger - Babbles - chest up, supported on hands - rolls supine to prone - raking motion - immature babbling

Answer 605

- Crawls - Pulls to stand - 10-11 month will start cruising - Early immature pincer - Waves bye, plays pat-a-cake - Says dada and mama - Turns to his or her name - Start of separation anxiety - mature babbling - some object permanence - they will look over the edge *Warning* if not responding to name

Answer 606

- Walks - Drinks from a cup - few steps with hand held - might walk independently - mature pincer - releases objects voluntarily - Mama, Dada specifically - 1 or more words (2-3 words because 1+2 =3) *Warning* not babbling between 10-12 months understands 1 step commands with gestures

Answer 607

- Walks backwards - Stacks 2-3 blocks - Scribbles - Uses spoon and fork - 6 words (1+5 = 6) - Knows 1-2 body parts - Follows one step commands without gestures *Warning* Doesn’t respond to no or “bye-bye” crawls up stairs

Answer 608

- Runs but clumsy - Walks up stairs with one hand held, 2 feet per step - Stacks 4 blocks - Copies a line - 8 words (1+7=8, close enough….) - Can point to 2-3 objects when named - Start to feel guilt and remorse - throws ball overhead - 5+ body parts *Warning* no words other than Mama/Dada and doesn’t point to wants

Answer 609

- Up and down stairs with 2 feet (2 directions with 2 feet) - runs well! - Kicks a ball, jumps in place - Copies circles and vertical strokes - Washes hands and brushes teeth - Puts on clothes - Puts 2 words together, 2 step commands - Knows body parts - 50+ words - 6 cubes (2+4=6) *Warning* no 2 word phrases or 2 syllable words and doesn’t follow simple commands

Answer 610

- Walks up steps alternating feet - walks on tip toes - Balances on one foot for 3 seconds - broad jump - Stacks 8 blocks - Imaginative play - 3 word sentences - Over 200 words - Understands tomorrow and yesterday - tricycle - can make a bridge with 3 cubes - knows sex, first/last name *Warning* echolalia

Answer 611

- Balances on each foot for 5-8 seconds - Can draw a plus sign - brushes teeth without help - names colors - downstairs alternating feet - stands on 1 foot 3-5 seconds - hops 5 times - 4-6 word sentences - past tense, understands opposites - 3-4 colors - can make a gate

Answer 612

- Skips - Heel-to-toe walks - Copies a square and triangle - can print a few letters - can make stairs with blocks *Warning* persistent stutter

Answer 613

- Copies a diamond | - Understanding right and left

Answer 614

Atlantoaxial Subluxation - skeletal growth is usually normal during the 1st year of life - severe growth retardation happens soon after

Answer 615

Familial Hypercholesterolemia - AD achilles tendonitis or tenosynovitis may be the 1st clue in a teenager - Angina and symptomatic coronary disease also occur in the 2nd decade of life

Answer 616

Phenylketonuria - AR - phenylalanine cannot be converted into tyrosine - defect in Phenylalanine hydroxylase - those who are not treated end up with severe intellectual disability with irreversible damage by 8 weeks of age - can develop musty odor, intellectual disability, eczema, decreased hair and skin pigmentation - preserved intellect if treated early

Answer 617

Alkaptonuria - deficiency of homogentisate 1,2-dioxygenase (3rd step in metabolism) - fresh urine is normal but as it sits and alkalinizes ,the oxidation proceeds and dark pigment forms - asymptomatic - in their 30s, they will have pigment deposition in their ears and sclearae (ochronosis) - this leads to arthritis

Answer 618

Valine Leucine Isoleucine

Answer 619

Maple Syrup Urine Disease - can proceed to death in 2-4 weeks without treatment - cannot stabilize branch chain amino acids - increase plasma and urine levels of valine, leucine, and isoleucine - Diagnostic is finding alloisoleucine - treatment is dietary leucine restriction

Answer 620

Glutaric Aciduria Type 1 - AR - lack of glutaryl-CoA dehydrogenase in the catabolic pathway of lysine, hydroxylysine, and tryptophan - macrocephaly with frontal and cortical atrophy and increased extra-axial space

Answer 621

Homocysteinuria - AR - causes elevated levels of homocysteine - Marfan has normal IQ - affects metabolism of methionine - decreased intelligence and lens dislocation - risk of thrombus

Answer 622

Urea Cycle Defect - elevated ammonia is the key finding with respiratory alkalosis - most common defect is OTC deficiency which is X-linked - All other urea cycle defects are AR

Answer 623

Isovaleric Acidemia (IVA) - AT - defect isovaleryl-CoA dehydrogenase - can present in the newborn period - presents with severe metabolic acidosis and moderate ketosis with vomiting, which can lead to coma and death - more typically it presents in infancy or childhood and is precipitated by an infection or increased protein intake

Answer 624

Cardiomyopathy, FTT, Recurrent Infections, Pancreatitis - presents in early neonatal period as severe ketoacidosis with or without hyperammonemia - infant will have encephalopathy, vomiting, and bone marrow depression

Answer 625

Alopenia, Skin Rash, Encephalopathy - due to either lack of holocarboxylase synthetase or biotinidase - biotinidase deficiency usually presents later as a rash that looks like acrodermatitis enteropathica

Answer 626

Medium Chain Acyl-CoA Dehydrogenase Deficiency - most common beta-oxidation defect - typically presents in the first 2 years of life - elevated C8, C8:1, C10:1 esters - hypoketotic hypoglycemia - causes liver disease and mild hyperammonemia - low carnitine - can cause sudden death - treatment is a low fat diet and carnitine

Answer 627

Type 1 Glycogen Storage Disease - von Gierke Disease - defect in glucose-6-phosphatase in the liver, kidney, and intestinal mucosa - 2 types - Type 1a is due to defect in the enzyme - Type 1b is due to a defect in the translocase that transport the enzyme across the cell membrane - severe and rapid fasting hypoglycemia - presents when they start skipping a feed during the night

Answer 628

Type 5 Glycogen Storage Disease - McArdle Disease - ***elevated CK at rest and elevated ammonia after exercise - exercise will also increase uric acid in the blood - AR - muscle phosphorylase deficiency causes reduced ATP generation by glycogenolysis resulting in glycogen accumulation

Answer 629

Type 2 Glycogen Storage Disease - Pompe Disease - deficiency in the lysosomal acid alpha-1,4-glucosidase (aka acid maltase) which is responsible for breaking down glycogen in lysosomal vacuoles - AR - infantile-onset presentation is most severe

Answer 630

Galactosemia - galactose 1-phosphage uridyl transferase def (GALT) - cannot metabolize galactose 1-phosphate - accumulates in kidney, liver, and brain - removing galactose from the diet reverses growth failure and renal/hepatic problems - even the cataracts will regress - presents in the first few days of life after initiation of feeding - results jaundice, hepatomegaly, coagulopathy, and cataracts - worry about Ecoli sepsis*** - treat with galactose/lactose restricted diet

Answer 631

Ecoli sepsis | - usually precedes the diagnosis

Answer 632

Galactokinase Deficiency - chrom 17 - treat with restriction of galactose * **BILATERAL CATARACTS****

Answer 633

Kearns-Sayre Syndrome and Chronic Progressive External Ophthalmoplegia (CPEO) Syndromes

Answer 634

Hurler Syndrome - Mucopolysaccharidosis Type 1 - defect in gene coding for alpha-L-iduronidase on chromosome 4 - severe diagnosis in the first year of life - present with bone marrow abnormalities (spondylolisthesis, degenerative bone loss) or eye problems (corneal clouding or retinal disease)

Answer 635

Type 2, Hunter Syndrome - X-inked (only males) - Hunter is the only X-linked mucopolysaccharidosis - you have to be able to see well in order to hunt so NO CORNEAL CLOUDING - has valve dysfunction, frequent URIs, macrocephaly from hydrocephalus - Hurler has corneal clouding, hunter does not

Answer 636

Mucopolysaccharidosis Type 3 - Sanfilippo Syndrome - diagnosed at 4-5 years of age

Answer 637

Niemann Pick Disease Type C - when cholesterol accumulates within the lysosomes of the reticuloendothelial system - results in secondary build up of GM2 ganglioside molecules

Answer 638

Tay-Sachs Disease - common in Ashkenazi Jewish population - Lysosomal Storage Disease: treat all with enzyme replacement therapy - hexosaminidase A def - loss of milestones with increased startle response - lipids accumulate in neural structures

Answer 639

Gaucher Disease Type 1 - deficiency of lysosomal glucocerebrosidase - non-CNS disease with splenomegaly

Answer 640

Fabry Disease - X-linked recessive - confirm diagnosis by finding deficiency of lysosomal alpha-galactosidase in plasma, leukocytes, or cultured skin fibroblasts - nerve, blood vessels (strokes), heart, and kidney disease

Answer 641

Copper - X-linked recessive disease - mutation in Menkes ATP7A gene - developmental regression at 2-3 months of age - seizures - coarse, twisted, kinky, hypo pigmented hair - low copper and ceruloplasmin in CSF

Answer 642

Acute Intermittent Porphyria - AD - due to hydroxymethybilane synthase deficiency - most common drugs to cause attack are phenobarbitol, sulfonamides, seizure medications, griseofulvin, and OCPs

Answer 643

Porphyria Cutanea Tarda - deficiency of hepatic URO-decarboxylase - can induce complete remission by phlebotomy to reduce hepatic iron - remission occurs after 5-6 phlebotomies

Answer 644

Erythropoietic Protoporphyria - AD - due to partial deficiency of ferrochelatase - oral beta-carotene improves tolerance to sunlight

Answer 645

Adenylate Deaminase Deficiency - AR - can have increase in serum CK but no myoglobinuria

Answer 646

Lesch-Nyhan Disease - X-linked recessive - HGPRT enzyme def - results in huge increase in uric acid production - results in gout and renal stones - presents with motor dysfunction resembling CP, self-injurious behaviors - screen with urinary urate-to-creatinine ratio - checking serum uric acids would be elevated but not reliable for diagnosis

Answer 647

Osgood Schlatter Disease - repetitive stress injury to the patellar tendon at its insertion into the tibial tubercle - during growth spurt bilateral irregular ossification of the tibial tuberosity at patellar insertion - most commonly seen in children age 10-15 - may see apophysitis and/or fragmentary ossification of the tibial tubercle on plain films - NSAIDs are helpful

Answer 648

Legg-Calve-Perthes Disease - partial or complete idiopathic avascular necrosis of the femoral head - in boys between age 3-15 - tell the boy to not bear weight on affected limb and refer to ortho - resolves with time - pain with hip flexion and rotation - idiopathic interruption of blood supply to the femoral epiphysis —> avascular necrosis - most commonly in boys age 6-8 years - place on crutches to prevent collapse of femoral head

Answer 649

Slipped Capital Femoral Epiphysis - slipping of the epiphysis off the metaphysis causing a limp and impaired internal rotation - most common in boys, obese, African americans - get an AP and frog-leg view - SURGERY!!! - screen for thyroid disease

Answer 650

Klippel-Feil Syndrome - when there is congenital fusion of > 2 of the 7 cervical vertebrae failure of separation of 2 or more cervical vertebrae (neck is short and broad with a limited range of motion) associated with Sprengel deformity where the scapula is small and high-riding and you can’t lift arms fully Check for NTDs and renal issues

Answer 651

Jeune Syndrome - Asphyxiating Thoracic Dystrophy - AR

Answer 652

CBC, Acute Phase Reactants, Plain Radiographs of the Hip | - need to rule out tumors and infections

Answer 653

Traumatic Myositis Ossificans - extraskeletal ossification following blunt soft tissue trauma - imaging shows a mature peripheral ossification with a distinct margin (not what you see in neoplasm) - neoplasms is always slightly separated from the long shaft of the bone

Answer 654

Hypothyroidism

Answer 655

Premature delivery Placental abruption Infants born to chronic users are frequently jittery, irritable, and tremulous with muscle rigidity

Answer 656

Spina Bifida when exposure occurs between 15 and 29 days after conception - Antiseizure medications are folate antagonists, so the mothers MUST take folic acid Valproate: hyperammonemic encephalopathy Carbemazepine/Oxcarbemazepine can lead to significant hypoNa in first 3 months

Answer 657

Vaginal adenocarcinoma when exposed prior to 12 weeks gestation

Answer 658

Renal dysgenesis, oligohydramnios, and skull ossification defects - especially when used during the 2nd and 3rd trimesters

Answer 659

Fetal Alcohol Syndrome | - Must find abnormalities in three areas (face, prenatal/postnatal growth def, and evidence of cognitive abnormality)

Answer 660

Neural Tube Defects - especially when during days 14-30 post conception 0.1% chance of having a kid with an NTD and 2-3% chance of having a second kid with it

Answer 661

Parvovirus B19 | - between 12th and 24th weeks of gestation

Answer 662

Trisomy 18

Answer 663

Diamniotic, Monochorionic Twin Placentals - these membranes can be separated easily to reveal a single chorionic surface that covers the villous structure - rarely if the twins separated before the formation of the chorionic cavity (before day 3), they could form separate diamniotic, dichorionic placentas (commonly associated with fraternal twins)

Answer 664

Epinephrine

Answer 665

38 Weeks Gestation - vernix findings are 38-39 weeks - upper 2/3 incurving of ear at 36-38 weeks - pinna spring back at 36-39 weeks - heel creases at 38-41 weeks - lanugo on shoulders at 38-41 weeks - breast tissue at 38 weeks - labia findings are 36-39 weeks

Answer 666

Bilateral Choanal Atresia

Answer 667

Harlequin Color Change - normal - vasomotor instability - resolves with maturity - occurs when infants lie on their sides with upper side being pale

Answer 668

Subgaleal Hemorrhage - results from bleeding behind the scalp aponeurotica - bleeding can be significant enough to cause hypotension, hyperbilirubinemia, and consumptive coagulopathy - hemophilia can present this way

Answer 669

Horner's Syndrome - injury to the sympathetic fibers of the 1st thoracic nerve - delayed pigmentation to the iris may occur

Answer 670

CHARGE Syndrome | - look for coloboma and atresia choanae

Answer 671

- lateral traction during delivery - damage to upper brachial plexus - 5th/6th cervical roots - waiter's tip

Answer 672

- damage to the lower brachial plexus - 7th/8th cervical roots and 1st thoracic component - claw hand - might need physical therapy

Answer 673

Persistent Pulmonary Hypertension of the Newborn - Occurs when the pulmonary vascular resistance remains elevated after birth causing a right to left shunt leading to severe hypoxia

Answer 674

Na - (Cl + HCO3) normal: bicarb loss in stool or RTA GI losses have a negative urine anion gap because there is adequate urine ammonium excretion and normal handling of acidosis per the kidneys because they work Na + K - Cl - Urine anion gap is positive with normal anion gap metabolic acidosis due to RTA - Urine anion gap is negative with normal anion gap metabolic acidosis due to GI losses (neGUTive ; GUT = GI) Urine Osm < 100 = polydipsia Urine osm > 100 = increased ADH

Answer 675

Measured Osmolality - Calculated Osmolality Calculated Osmolality = 2(Na) + (BUN/2.8) + (Glucose /18) Normal is less than 10 >25 is almost always due to toxic alcohol poisoning Normal Osm is 275-290, high osmolar gap is excess endogenous acids

Answer 676

IgA nephropathy aka Berger Nephropathy | - post-streptococcal

Answer 677

Thin Basement Membrane Nephropathy - Benign Familial Hematuria - no treatment - good prognosis - surveillance is required as patient can develop proteinuria and renal failure

Answer 678

AR Polycystic Kidney Disease - hepatic fibrosis is universal - you get oligohydramnios because of the intrauterine renal failure - abnormal facies is "potter facies"

Answer 679

Allergic Interstitial Nephritis | - drug-hypersensitivity

Answer 680

3-5 years after initial diagnosis for DM I | Yearly after initial diagnosis for DM II because you dont know how long they've had the disease

Answer 681

Alport Syndrome - mutations in genes that encode for Type 4 collagen - makes up basement membranes of kidneys, ears, and eyes - most are X-linked can also have myopia with anterior ocular lenticonus (lens protruding into anterior chamber) hematuria without hearing loss is benign and can be secondary to familial hematuria (wont have protein loss)

Answer 682

Nail-Patella Syndrome - No therapy for the nephropathy - absent hypoplastic nails and UA with proteinuria/hematuria, chronic knee pain with lateral patellar slippage; can progress to ESRD

Answer 683

C3 low C4 normal or minimally low C3 is normal in IgA nephropathy

Answer 684

IgA nephropathy - No latency period. Symptoms correspond with nephropathy - C3 is normal

Answer 685

IgG and C3 | - can also find anti-GBM antibody in the plasma of 90% of patients

Answer 686

Anti-Proteinase-3 - c-ANCA is sensitive and specific for GPA necrotizing granulomatous vasculitis that affects multiple organs especially in upper and lower resp tract and kidneys mucosal ulcerations, hemoptysis, conjunctival injection can lead to saddle nose deformity need nasal or oral inflammation, abnormal CT, hematuria or red cell casts and vascular granulomatous inflammation on biopsy ANCA positive

Answer 687

Renal vein and Sagittal sinus

Answer 688

Berry Aneurysms in the Circle of Willis

Answer 689

Aldosterone antagonist - K sparing - can cause acidosis

Answer 690

Juvenile Nephronophthisis Type 1 - AR - Poor differentiation between the cortical and medullary areas of the kidney on renal sono - leads to end stage renal disease

Answer 691

Normal anion gap, meaning all are hypochloremic

Answer 692

Type 4 RTA - type 1 has low K - type 2 has low normal RTA 4: hyperK, adrenal failure, DM aldosterone dependent

Answer 693

Type 1 RTA due to decreased citrate excretion and hypercalciuria - amphotericin B is the most common cause of Type 1 RTA - cant acidify the urine - don’t decrease Ca intake in stones because it increases oxaluria

Answer 694

Type 2 RTA - also associated with amino acid problems, heavy metal exposure, and use of outdated tetracycline - associated with Fanconi Syndrome which is dysfxn of proximal tubule —> loss of bicarb, phos, glucose - Cystinosis: rickets, Fanconi’s, blue eyes/blonde hair

Answer 695

Prerenal Azotemia

Answer 696

Acute Tubular Necrosis - usually 7-10 days after initiation of therapy - large, muddy-brown granular casts

Answer 697

Ureteropelvic Junction Obstruction

Answer 698

Prune Belly Syndrome

Answer 699

Friedrich Ataxia - AR - chromosome 9

Answer 700

Enancephaly

Answer 701

Hydrocephalus

Answer 702

Meningocele - herniation of the meninges alone (not the spinal cord) through a defect in the posterior vertebral arches - well covered with skin - can delay surgery in patients that are neurologically normal

Answer 703

Myelomeningocele - can be prevented with folic acid during pregnancy - valproic acid interferes with folate metabolism - infant will likely develop hydrocephalus and a Type II Chiari Defect (4th ventricle and lower medulla are pushed down below the level of the foramen magnum)

Answer 704

Type 1: cerebellar tonsils or vermis are pushed down below the level of the foramen magnum Type 2: 4th ventricle and lower medulla are pushed down below the level of the foramen magnum Type 3: cerebellum herniates through a cervical spina bifida defect

Answer 705

Lissencephaly - smooth cerebral surface with thickened cortical mantle of the brain - no cerebral folds and grooves - feeding impairment, recurrent PNA - rarely reach age 10

Answer 706

Schizencephaly - "split brain" - severe epilepsy, spastic quadriparesis

Answer 707

Agenesis of the corpus callosum

Answer 708

Acquired Antiphospholipid Antibody Activated Protein C Resistance (Factor 5 Leiden)

Answer 709

Juvenile Myoclonic Epilepsy | - seizures increase with sleep deprivation, stress, or alcohol use

Answer 710

Lennox-Gastaut Syndrome

Answer 711

Rasmussen Syndrome - immune process of one hemisphere - focal excision usually improves symptoms dramatically

Answer 712

Basilar Artery Migraine | - more common in teenage girls

Answer 713

Spinal Muscular Atrophy Type 1 | - patients usually die by age 2 from respiratory failure

Answer 714

Neuroblastoma - most common malignancy in infancy - typically presents with large nontender abdominal mass

Answer 715

Osteochondroma - benign - most often in metaphysis

Answer 716

Osteoid Osteoma - benign tumor - excise the lesion

Answer 717

Li-Fraumeni Syndrome - familial cancer syndrome - increased risk of CNS tumors

Answer 718

von Hippel-Lindau Disease | - AD

Answer 719

Preseptal Cellulitis - Both orbital and preseptal include erythema, warmth, swelling, and tenderness to the eyelid surrounding the skin. - preseptal is mild and orbital is more severe with fever, eye pain, vision loss, diplopia, proptosis, opthalmoplegia, and chemosis.

Answer 720

5 First-order kinetics: the rate at which a drug is eliminated is dependent on (proportional to) the drug concentration. When a drug is following first order kinetics, the serum concentration of the drug is half of the initial concentration after 1 half-life. It will take about 5 half lives to reach a steady state. So medication will be 97% cleared after 5 half-lives.

Answer 721

Scimitar Syndrome | - pulmonary venous blood from the right lung goes to the IVC

Answer 722

Histoplasmosis - Ohio, Mississippi River Valleys - associated with droppings of chickens and bats

Answer 723

Coccidiomycosis

Answer 724

Blastomycosis | - chronic PNA with skin dissemination

Answer 725

Allergic Bronchopulmonary Aspergillosis - also occurs in CF - clues are recurrent nature, very high IgE, and eosinophilia

Answer 726

Chlamydia Pneumoniae

Answer 727

Idiopathic Pulmonary Hemosiderosis

Answer 728

Antiglomerular Basement Membrane Antibody Disease AKA Goodpasture Syndrome - lung disease is same as ulmonary hemosiderosis but this involves the kidneys as well

Answer 729

S. Aureus - causes pneumonia in a patient with recent or current URI or flu - pneumatoceles can also be seen in strep pyogenes but think of staph when there is a viral illness at the same time

Answer 730

Systemic Juvenile Idiopathic Arthritis - peak onset at age 2 - must have synovitis - no uveitis - negative ANA helps distinguish this from SLE - has fever that abruptly returns to normal on a daily basis with salmon-pink rash that is worse while febrile on trunk (rash also appears with stroking of the skin)

Answer 731

Oligoarticular Juvenile Idiopathic Arthritis - females, age 1-5 - need assistance with dressing, eating, bathing - risk factor for uveitis

Answer 732

Macrophage Activation Syndrome - bone marrow with hemophagocytosis - low ESR due to low fibrinogen

Answer 733

Polyarticular Juvenile Idiopathic Arthritis (poJIA), RF positive - > 5 joint during the first 6 months

Answer 734

Juvenile Psoriatic Arthritis - erythematous, sharply marked plaque with silver scale on elbows/knees - pinpoint bleeding when plaque is removed - nail-pitting and oil spotting

Answer 735

Granulomatosis with polyangiitis (Wegener's) | - positive c-ANCA is a big hint!

Answer 736

Behçet Disease - pin, recurrent oral/genital ulcers, inflammatory eye disease - positive pathergy test: skin prick with papules 2 days later - recurrent oral and GU ulcers that heal without scarring - arthritis, vasculitis, CNS issues

Answer 737

Kingella kingae - usually isolated on PCR assays - treat with cefazolin - septic arthritis is usually s. aureus though

Answer 738

- yellow fever > 9 months - Japanese encephalitis > 2 months - Meningitis and Typhoid > 2 months

Answer 739

has inclusion bodies treat with erythromycin

Answer 740

In a child who has received 3 or more doses of tetanus toxoid, a clean wound requires post-exposure prophylaxis with a tetanus vaccine if the last dose was more than 10 years ago and a dirty wound require post-exposure prophylaxis if the last dose was more than 5 years ago If the child has not received 3 or more doses of tetanus, any wound requires post exposure prophylaxis with a tetanus vaccine while a dirty wound also requires TIG

Answer 741

Varicella: “dew drop on a rose petal” aka a papule on an erythematous base with other lesions crusted over Congenital: zig-zag lesions on one dermatome, cataracts, limb hypoplasia newborns at risk of mother got it 5 days before or 2 days after delivery, give ZIG Have to worry about invasive GAS leading to nec fasc with varicella Treat post-exposure in immunocompromised or susceptible with vaccine within 3-5 days Patients are contagious 1-2 days before the rash and until all of the lesions are crusted over Almost common complication in adolescents is PNA

Answer 742

Can get vomiting/diarrhea, increased LFTs, renal failure, AMS, Platelets < 1000, hyperemia Rash in toxic shock: macular, sunburn-like erythroderma followed by desquamation in 7-14 days and hypotension Treat toxic shock with clindamycin and vancomycin. If it is group A strep then treat with clinda and PCN

Answer 743

Mastoiditis is commonly cause by the same agents that cause AOM: S pneumo, Staph, H flu, GAS

Answer 744

- atypical presentation is unilateral conjunctivitis without pain or discharge - sometimes associated with an ocular granuloma and ipsilateral preauricular lymphadenitis (Parinaud occuloglandular syndrome)

Answer 745

- posterior cervical and sub occipital LAD, injected pharynx, cough, blanching rash on trunk and upper thighs - rash starts on the face and then spreads down and out, pinkish red macular lesions - cataracts, deafness, (more common in CMV) blue-berry muffin rash, PDA/Peripheral Pulm Artery Stenosis - In adolescents, the typical rash is preceded by 5 days of increased temperature, malaise, headaches, sore throat; posterior cervical, post auricular, and sub occipital LAD; rash is soft palate petechia and/or larger reddish spots - rubella usually is associated with maternal infection in first trimester

Answer 746

- Use Immunoglobulin in exposed patients who are highly susceptible (those < 1 year, pregnant, or immunocompromised) - infants < 6 months of age should get IG or IVIG within 6 days of exposure - infants age 6-11 months can get the vaccine within 72 hours of exposure - needs airborne precautions: negative pressure, N95 regardless of immunization status

Answer 747

Enterovirus (Coxsackie/Echovirus) - shallow ulcers on the posterior OP (grayish white vesicles with a surrounding halo and superficial erosions) - posterior cervical LAD - most common cause of aseptic meningitis in the US

Answer 748

Cryptosporidium, Shigella, Giardia, norovirus, and Escherichia coli O157:H7

Answer 749

Staphylococcal food poisoning - present 4-6 hours after ingestion of food with nausea, vomiting, and diarrhea - rarely lasts longer than 12 hours but can have severe dehydration - no antibiotics as this is an ingested toxin, not active bacteria - E coli, salmonella, and giardia will have longer incubation times

Answer 750

If you suspect MRSA, drain the lesion!!! Double disc diffusion test checks clinda resistance If abscess is less than 5 cm, can just I&D if more than 5 cm, give bactrim with I&D MRSA will not respond to Kelfex or Augmentin Purulent infections are almost always mrsa

Answer 751

Borrelia Burgedorfi, tick needs to remain on for 36 hours before the spirochete can be transmitted so there is no risk of infection if it is less than this Early disease: erythema migrans (bull’s eye lesion) Early disseminated: erythema migrans + CN palsy and sometimes heart block (treat for 21-28) Late disseminated: weeks to months later with arthralgia Tx: 10 days Doxy OR 14 days Amox if carditis/meningitis/arthralgia: give 14-28 days ceftriaxone Dx: IgM/IgG of Borrelia

Answer 752

Babesiosis - NORTHEAST - intra/exoerythrocytic parasites on Giemsa; “Maltese cross” by tetrad of Babesia - tx: atovaqone + azithromycin OR clindamycin + quinine for severe disease

Answer 753

Giardia, Hep B and C, Syphilis, HIV, and TB

Answer 754

- diagnose with skin scraping after dropping mineral oil on lesion - VERY contagious - eczema like with thick scaly papules localized to the extremities and scalp - seen more in immunocompromised and immobile patients - treatment with 5% permethrin cream applied to neck down and rinsed 8-14 hours later

Answer 755

Cutaneous larval migrans can also get acute unilateral blindness in one eye with retinal lesion tx: albendazole

Answer 756

Toxocariasis: visceral larva migrans eggs hatch in the GI tract and spread everywhere eosinophilia, hypergammaglobulinemia can get respiratory symptoms like cough, recurrent wheeze, bilateral rales are common on exam can get unilateral ocular symptoms like decreased acuity or strabismus

Answer 757

supportive care can get orchitis and meningitis but rarely result in long term morbidity sterility is a rare complication think of this with bilateral parotitis in an unvaccinated child

Answer 758

- Treat Salmonella in children less than 3 months or if immunocompromised with ceftriaxone, otherwise dont treat as it leads to shedding; treat Shigella

Answer 759

check spleen, look for rose spots tx with ceftriaxone

Answer 760

sinusitis in less than age 3 is due to s pyogenes; s pyogenes also causes retropharyngeal abscesses widened retropharyngeal space with anterior airway displacement on lateral neck film

Answer 761

peritonsillar abscess

Answer 762

CD4 counts can be normal early on Test HIV with PCR at birth, 4-6 weeks and 4 months - DONT TEST ANTIBODY

Answer 763

can also presents with Alice in Wonderland (hallucinations) or periorbital edema, long lasting vaginal ulcers EBV can look very similar to strep pharyngitis can also get transverse myelitis, encephalitis After receiving amoxicillin or ampicillin, a majority of patients with infectious mononucleosis develop a diffuse, erythematous, macular and papular rash (not a drug reaction) no contact sports for 4 weeks or 21 days

Answer 764

Discitis (usually lumbar) has elevated ESR, CRP but negative cultures caused by staph aureus in kids age < 5 years indolent vertebral space infection so you will see narrowing of the intervertebral disk space on MRI

Answer 765

Cellulitis Adenitis Syndome S agalactiae LAD around ear and submandibular

Answer 766

Mycobacterium Avium/Intracellulare LAD discolored LN so EXCISE think of marinum in a chronically draining LN or lesion in a kid who was playing in water

Answer 767

Scrofula: Mycobacterium bovis or TB diagnose with FNA cervical tuberculous lymphadenitis most common form of extra pulmonary tuberculosis treat for 6-9 months with 4 drug regimen of rifampin, isoniazid, ethambutol, and pyrazinamide

Answer 768

in an asymptomatic mother with a positive PPD and normal CXR, separation of mother and infant is not recommended the mother but not the infant should get treated for latent TB for 9 months with isoniazid mother can still breastfeed All family members should get tested for TB If mother does have TB with positive CXR, the infant should be evaluated for congenital TB and separated from mother until both are receiving appropriate therapy mother can breastfeed after 2 weeks of treatment when she is no longer contagious If congenital TB is excluded, the infant should receive Isoniazid until 3-4 months of age at which time PPD should be performed if positive, reassess for TB, if negative, isoniazid should be continued for 9 months total

Answer 769

FABER test painful figure 8 in the sacroiliac joint flexion of the hip and knee with abduction and external rotation of the hip

Answer 770

Psuedomonas or staph aureus; treat with Cipro drops

Answer 771

common cause of arboviral neuroinvasive disease can cause aseptic meningitis, encephalitis, and acute flaccid myelitis diagnose with West Nile virus IgM antibody in the CSF - CSF serologies

Answer 772

If baby is born to mother with active HSV lesions and this is her first time having them, then get surface cultures/CSF and start treating - Neonatal herpes has pleocytosis and increased protein with normal glucose If mother has active lesions but she has a history of HSV in the past, then admit with viral surface cultures and observe For asymptomatic patients born to mom with active lesions from PRIMARY disease - get cultures, CSF, and then treat for 10 days at least vs 21 days for positive disease - if recurrent disease, then get studies, no CSF, observe for 48 hours without acyclovir - 75% of infants with neonatal HSV are born to women with NO history of HSV disease - concern for hepatitis, pneumonitis

Answer 773

Roseola: HHV6 blanching maculopapular rash that starts on the neck and trunk and spreads to the face and extremities can also develop palpebral and peri orbital edema (berliner sign) 25% of patients have a bulging fontanelle

Answer 774

Anthrax: Bacillus anthracis from cattle/sheep/goats infection can occur after exposure to infected animals, including hair, wool, hides, or meats cutaneous disease is caused by dermal exposure - most common form of anthrax infection small erythematous papule develops and progresses to a vesicle; once vesicle ruptures, a central necrotic ulcer forms which can evolve to a black eschar over a few days lesion does not itch and is not purulent Treat with cipro or doxycycline for a week, 60 days if concerned for airborne spores

Answer 775

Bubonic Plague Yersinia pestis; fever with tender LAD, usually in the inguinal region can get ecthyema gangrenosum caused by Pseudomonas that can be life threatening

Answer 776

Dont give mefloquine to people with anxiety or depression because it makes it worse; preferred in pregnant woman if an area has chloroquine resistance Dont use primaquine in people with G6PD as it can cause hemolytic anemia Don’t use doxy in pregnant women or children less than age 8 Chloroquine is resistant everywhere except central america and the middle east Atovaquone and Doxy can be used in every region

Answer 777

A contaminant Coag negative staph (CoNS) more likely if a patient is born full term and does not have an indwelling device that would predispose to an invasive infection

Answer 778

undercooked meat, unpasteurized milk, fecal contamination of produce (apples, apple cider, vegetables) can also be seen in daycare, petting zoos, swimming in the summer HUS: microangiopathic hemolytic anemia —> schistocytes (helmet shaped red cell fragments, burr cell); preceded by colitis, bloody diarrhea by E Coli HUS supportive treatment

Answer 779

TB, Measles, VZV

Answer 780

Cdiff, conjunctivitis, enterovirus, EHEC/Shigella/Salmonella, Rotavirus, RSV

Answer 781

Active TB, influenza, and VZV, separate mom and baby

Answer 782

Erisypelas is GAS so treat with amox

Answer 783

Shigella flexerini, sonnei —> purulent, sometimes bloody vaginal discharge; from contaminated food/water; can have seizures; tx: ceftraixone x 2 days

Answer 784

Entomoeba histolytica

Answer 785

osteochondritis of radius, ulna; jaundice, anemia, rash on palms/soles, saddle nose (rhinitis) Elevated RPR in pregnancy maternal syphilis early: aundice, splenomegaly, chorioretinitis, hemorrhagic rhinitis (snuffles) think about nephrotic syndrome*** Hutchinson triad presents late: peg-shaped upper incisors, 8th nerve deafness, saber shins/scaphoid scapula Skeletal changes include osteochondritis and periostitis involving the metaphysics and diaphysis of the long bones (painful, associated with irritability and lack of movement of the limbs) Craniotabes in syphilis is soft, flexible areas of the bone, especially parietal and occipital; if it persists after 6-9 months, think about rickets, high vitamin A, low vitamin D

Answer 786

Chronic Mucocutaneous Candidiasis T cell dysfunction can also be associated with addisons disease

Answer 787

Lemierre’s Disease Fusobacterium necrophorum) Risk of pulmonary septic emboli; treatment is to drain and give antibiotics

Answer 788

Chlamydia PNA has hyperinflation, minimal infiltrates, rales without wheeze, and eosinophilia; tx with erythromycin infants born to mothers with untreated chalmydia should be observed and dont need prophylaxis

Answer 789

Regardless of immunizations, give all exposed to Hib Rifampin (dose is different from meningitis ppx); Hib dosing is 20 mg/kg daily x 4 days ppx is not needed when if everyone in the house is fully immunized and there is no immunocompromised people Give ppx if: - household with at least 1 person < 48 months old who is unimmunized - household with child < 12 months who has not completed series - household with a contact who is an immunocompromised child regardless of immunizations status or age

Answer 790

Invasive meningitis: treat close contacts with Rifampin 10 mg/kg BID over 2 days (drug of choice for kids) Ciprofloxacin can be used in patients > 1 month of age chemoprophylaxis prior to discharge is also indicated for the index case if invasive disease is treated with any antimocrobia other than ceftriazone or cefotaxmine Chemoprophylaxis with rifampin 10 mg/kg (max 600 mg) BID x 2 days or Ceftriaxone IM in a single dose individuals who have had > 8 hours of close contact to the patient or have been directly exposed to their secretions from 7 days before symptoms util 24 hours after initiation of antibiotics Think serotype B neisseria if in infants

Answer 791

Tularemia dx: serum agglutinin test treatment is gent ticks and rabbits are major sources of infection

Answer 792

Campylobacter tx: azithromycin if patient is chronically ill, immunocompromised, if they have high fever, bloody stools, or more than 1 week of symptoms

Answer 793

A PPD is considered positive if > 10 mm in children < 4 years of age, those with chronic medical conditions, or those with close contact to high risk individuals > 5 is positive in those who have close contact with people with TB, CXR evidence of TB, or those with immunosuppressive diseases Kids who are age 4 or greater without risk factors are considered positive with PPD > 15 mm

Answer 794

An asymptomatic infant born to a mother with untreated gonorrhea has an increase risk of acquiring the disease and needs a single dose of IM ceftriaxone ophthalmia neonatorum is conjunctivitis in the first 4 weeks and can be caused by chlamydia as well but ocular ppx does not eradicate nasopharyngeal colonization if in the first 24 hours, chemical conjunctivitis if within 2-7 days, gonorrhea 5-14 days is usually chlamydia

Answer 795

bacillus cereus acanthomoeba

Answer 796

Arcanobacterium haemolyticum is pharyngitis in adults test in blood rich media tx erythromycin

Answer 797

Erlichiosis

Answer 798

Herpes pf the geniculate ganglion that results in facial nerve palsy; ant 2/3 of the tongue, ear, pinna, soft palate; ear pain, ataxia, tinnitus tx: steroids, acyclovir

Answer 799

Influenza —> decreased ciliary body function —> S aureus PNA (flu can also lead to strep pneumonia PNA)

Answer 800

Dont use nitrofurantoin in febrile UTIs as it does not have adequate renal perfusion

Answer 801

Juvenile Laryngeal Papillomatosis - warty lesions caused by HPV 6 and 11

Answer 802

Streptococcosis - S. pyogenes - protracted nasal congestion with thick yellow nasal discharge, low grade fever, and tender anterior cervical LAD

Answer 803

Can treat strep pharyngitis with a single dose daily of 50 mg/kg oral amoxicillin for 10 days versus the standard penicillin or amoxicillin administered 2-4 times per day

Answer 804

Headrighting (child keeps head vertical while body is tilted): 4 months of age

Answer 805

Hold out hand to prevent falling at 6 months of age Flex neck when pulled to a sitting position is at 6 months Extension of extremities to side of body that head is turned: 2-4 weeks of age, gone by 6 months

Answer 806

2-4 year olds don’t understand the concept of ownership and rules 6 year olds understand that there are rules but have trouble controlling impulses. 8 year olds have developed a conscience

Answer 807

Girls = [Mom + (Dad - 5)]/2 Boys = [(Mom + 5) + Dad]/2 Familial short stature is +/- 4 in from calculated height

Answer 808

Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis unknown etiology that resolves in about 5 days occurs at 4 week intervals between age 6 months to 7 years responds quickly to prednisone

Answer 809

dsDNA is most specific can commonly present with painless oral ulcers and malar rash look for anemia and thrombocytopenia and/or leukopenia most common complication is glomerulonephritis Mom’s with lupus —> babies should get EKG to check for heart block

Answer 810

Juvenile Idiopathic Arthritis morning stiffness or aching lasting for 15 minutes restricted range of motion or swollen joints complications include joint destruction, osteopenia, uveitis treat with NSAIDs, consider DMARDs if arthritis persists after 2 months of NSAIDs normal ANA, RF

Answer 811

dermatomyositis Gottrens papules on the knuckles Elevation of CK, LDH, aldolase Can develop dysphagia

Answer 812

Reiter Syndrome post infectious arthritis, conjunctivitis, and urethritis treat with NSAIDs

Answer 813

purpuric rash on lower extremities, abdominal pain, arthralgia, and glomerulonephritis with IgA deposition Usually preceded by a viral illness

Answer 814

Chronic Fatigue Syndrome

Answer 815

fever, abdominal pain, testicular pain amyloidosis is most common complications treatment is colchicine

Answer 816

Complex Regional Pain Syndrome allodynia or hyperalgesia treatment is physical therapy

Answer 817

Age 11-14: preoccupied with self, doesn’t like appearance, test authority, poor impulse control, limited thoughts of the future Age 15-17: friends are the most important, more fights with parents, takes more risks Age 17-21: individual relationships matter more than friends, start to seek parental advice, abstract thinking, understand that there are consequences to actions, life goals

Answer 818

Treat gonococcal urethritis with ceftriaxone plus azithromycin for coverage against chlamydia If patients have an uncomplicated genital chlamydia infection, treat with 1g single dose of azithromycin or Doxy BID for 7 days. RETEST after 3 months to determine if patient has been reinfected

Answer 819

Disseminated gonorrhea presents with either prurlent mono/oligoarthritis OR a triad of tenosynovitis of the wrist/han ds/fingers, dermatitis, and polyarthralgia the dermatitis is characterized by tender cutaneous lesions which may be petechial, pustular, or necrotic males: test urine NAAT, females: 1st choice is vaginal swab but urine is acceptable gram stain can also be used for gonorrhea only in urethral secretions of symptomatic men, PMNs with gram negative diplococci High cephalosporin resistance with gonorrhea so treat for chlamydia even if they test negative for it

Answer 820

PAINLESS chancre/LAD with slightly raised, clean edges VDRL and RPR are for screening and response to treatment Fluorescent treponemal Ab (FTA-Abs) or Treponemal pallidum particle agglutination test confirm diagnosis treated with a single dose of IM PCN G

Answer 821

Migraines with auras are absolute contraindications to estrogen containing contraceptives OCPs are contraindicated in benign or malignant liver disease as the estrogen and progesterone cant be metabolized by the liver; they should also be avoided in those who are less than 21 days postpartum, history of DVT, migraines, smokers, lupus, or have an estrogen sensitive neoplasm like breast cancer the effectiveness of OCPs is reduced by AEDs like phenytoin, carbamazepine, primidone, and phenobarbital Progestin only contraception has the side effect of delay in return of menstruation and fertility Rifampin decreases estrogen and progesterone in OCPs, also turns your urine orange

Answer 822

Give Depo shot within 5 days of menses and then every 3 months increased risk of endometrial cancer as it leads to endometrial hyperplasia not affected by anti epileptics and may actually have anti seizure properties of its own works by inhibiting gonadotropic secretion and inhibits follicular maturation and ovulation it also alters uterine lining and thickens cervicla mucus to prevent sperm entry contraindicated in patients who are pregnant, with bleeding disorders, breast malignancy, or history of liver disease or cerebral vascular disease

Answer 823

Copper IUD releases copper ions that are toxic to sperm following their release into the endometrium hormonal IUD releases levonorgestrel to suppress endometrial proliferation making the endometrial lining inactive and changes the cervical mucus

Answer 824

Condyloma acuminata is HPV, Condyloma lata is secondary syphilis

Answer 825

the cervix is infected in the transformation zone after trauma during intercourse (where columnar cells transform into squamous epithelium - metaplasia that is very active during adolescence) majority of infections are transient and clear by 2 years types 16 and 18 account for 70% of cervical cancer cases) HPV DNA testing in female adolescents is not necessary

Answer 826

cervical cancer screening should occur at 21 regardless of sexual activity patients with HIV should be screened twice within the first year of diagnosis and if testing is negative, then test yearly in women who are otherwise immunocompromised, screening should begin one year after onset of sexual activity or by age 21 whichever occurs first cervical cytology screening is then recommended every 3 years with pap smear

Answer 827

Peak height velocity in girls is at 11.5 years (8.3 cm/yr, SMR 2-3) and 13.5 years in boys (9.5 cm/yr, SMR 3-4) pubertal growth is 20% of final adult height

Answer 828

Testicular cancer has increased AFP seminomas dont make AFP or B-hCG

Answer 829

bluish macules on thigh, lower abdomen, buttocks treat with permethrin

Answer 830

anorexia, amenorrhea, bone loss decreased GnRH —> decreased LH, FSH, estrogen

Answer 831

weight < 75%ile, dehydration, electrolyte imbalances, arrhythmias, HR < 50, orthostasis, temperature < 96, or SBP < 90 SCOFF questionnaire is good for eating disorder screening

Answer 832

Lymphogranuloma venerum Caused by chlamydia “groove sign” is when the patient has femoral LAD that is clearly separated from inguinal LAD seen most often in men who have sex with men treatment is doxycycline

Answer 833

If no menarche by age 15 SMR 5 > 1 year no menarche by 3 years after breast development If puberty is normal, do a pelvic US to look for outflow tract obstruction or agenesis If puberty is abnormal, get FSH - if elevated (HYPERgonadotropic hypogonadism): Turners, Androgen Insensitivity, ovarian failure - if low (HYPOgonadotropic hypogonadism): constitutional delay, anorexia, GNRH def, Kallmans

Answer 834

Secondary Amenorrhea is absence of menses for 3 cycles or 6 months If hirsutism or virilization, check LH/FSH, testosterone, DHEAS - If DHEAS is 500-700 get a 17-OH to rule out CAH - If greater than 700 or testosterone 200, get abdominal imaging to rule out a tumor If no hirsutism or virilization, rule out pregnancy, TSH, prolactin, and give progesterone challenge - if bleeding, then HPA axis is not functioning properly - if no bleeding, then get an FSH - - if FSH is high, then premature ovarian failure - - if FSH is low, problem in HPA axis or anorexia (female athlete triad results in loss of pulsatile GnRH secretion from the hypothalamus leading to a low LH and FSH and estrogen deficiency)

Answer 835

anovulatory bleeding is due to an immature hypothalamic-pituitary-ovarian axis and is characterized by absence of the normal mid surge of LH which leads to ovulation and the development of a functional corpus luteum the corpus luteum releases a large amount of progesterone which has a negative feedback effect on LH and FSH and leads to withdrawal bleeding because there is a decrease in estrogen levels in adolescents with anovulatory cycles, FSH is not suppressed and unopposed levels of estrogen remain high, which stimulates additional proliferation and thickening of the endometrium with inadequate progesterone, portions slough off at irregular levels causing prolonged or heavy dysfunctional bleeding can give OCP 4x/day x 4 days, then OCP 3x/day for 3 days, then OCP 2x/day for 2 weeks to stop abnormal uterine bleeding

Answer 836

Asherman Syndrome complications include menstrual irregularities, recurrent miscarriage, IUGR, placenta accrete, uterine rupture adhesions can also obstruct menstrual flow leading to retention of blood within the uterus do a hysteroscopy

Answer 837

If without concerning features can be observed for 1-2 months for growth or regression, usually unilateral

Answer 838

occurs in cycles < 20 days or > 45 days; lasts > 8 days; results in > 80 ml blood loss or 6 full pads or tampons per day start iron if hgb < 10 if lasts > 7 days and/or frequent menses every 1-3 weeks and Hgb > 10 —> prescribe an OCP

Answer 839

Bartholin gland abscess

Answer 840

Sheehan Syndrome: hypopituitarism after pituitary infarction/necrosis from postpartum hemorrhage and shock

Answer 841

Chronic rhino sinusitis can be caused by staph aureus Acute sinusitis is strep pneumo, moraxella, Hflu; kids present with cough

Answer 842

Cholesteatoma Must be surgically removed or else it will progress to the ossicles and destroy them; can also result in 6th and 7th nerve palsies, abscesses, meningitis, and venous thrombosis

Answer 843

Pseudomonas Topical Ofloxacin

Answer 844

Orbital Cellulitis Caused by S aureus Tx is clinda or 3rd gen cephalosporin Complicated by cavernous sinus thrombosis, meningitis, brain abscesses

Answer 845

Drain it and place a pressure bandage to prevent necrosis Give prophylaxis for pseudomonas Risk of poor cosmetic outcomes

Answer 846

Ethmoid and maxillary at birth sphenoid at 5 years frontal at 6 years - osteo of frontal is pott's puffy tumor

Answer 847

Amox or Augmentin for s aureus Children with isolated fractures to the paranasal sinuses should get 1 week oral abx and then 1 wk follow up

Answer 848

Ludwig's Angina Treat with Unasyn/Augmentin

Answer 849

- Thyroglossal duct cyst - Branchial cleft cyst: congenital epithelial cyst that forms anywhere between the 1st and the 4th branchial clefts, often go unnoticed until they become infected - Lymphangioma - If greater than 5 hemangioma, assess for internal ones

Answer 850

MCC of hearing loss is conductive from chronic otitis with effusions 0-20 dB is normal hearing and > 90 dB is profound hearing loss

Answer 851

Conductive Hearing Loss Sensorineural Hearing Loss

Answer 852

Connexion 26 defect

Answer 853

Perilymphatic Fistula

Answer 854

Screen at 1 month, confirm at 3 month, early intervention by 6 months

Answer 855

OAE tests cochlear function BAEV/ABR tests brainstem (consider in kids with meningitis as meningitis affects the acoustic nerve and therefore you would need to assess for sensorineural hearing loss)

Answer 856

Behavioral Observation Audiometry is for < 6 months of age (stimuli with speakers, change in actions) Visual Reinforced Audiometry (6 months to 3 years) watch child look for sound Conditioned Play Audiometry (age 3-5 years), child should play in response to sound Conventional (5+ years) raise hand to sound Tympanometry is not a hearing test

Answer 857

normal tympanogram has compliance pressures between -150 and +50 normal peak compliance is between 0.2 and 1.8cc if left shifted then that means negative pressure in the middle ear which is probably from eustachian tube dysfunction poor compliance with high volume —> perforated poor compliance with low volume —> cerumen impaction poor compliance with normal volume —> effusion peak compliance at a negative pressure —> eustachian tube dysfunction

Answer 858

Consider tubes if > 3 AOM in 6 months of > 4 in a year with last one 6 mo ago

Answer 859

Bruckner (for infants/young children) tests for red and white reflexes

Answer 860

Cataract has white reflex and retinoblastoma has yellow Phoria is when eyes drift apart when one is covered (refer after 2-4 mo) Tropia is fixed deviation (always refer)

Answer 861

Excessive tearing, photophobia, and blepharospasm Prior to age 3, ocular enlargement can be a sign of glaucoma, can also get corneal clouding

Answer 862

Retinoblastoma presents at age 13-18 months as strabismus

Answer 863

pinch the nasal alae for 5-10 minutes; bleeding happens in the anterior portion of the nose; any children less than 12 years of age who has nasal polyps should be evaluated for CF

Answer 864

At birth, visual acuity is 20/200, visual acuity improves during first 3-4 months and then eyes start working together at 4-6 months of age (3D vision) amblyopia is most common cause of decreased vision in children; the earlier the onset of abnormal stimulation then the greater the deficit

Answer 865

papilledema, visual field deficits, CN6 palsy

Answer 866

hearing loss, CSF fistula, facial nerve palsy

Answer 867

Dermoid cysts Lesions that are midline should get imaging to assess CNS involvement

Answer 868

Epidermal cyst

Answer 869

Icthyosis Vulgaris treat with an emollient containing alpha-hydroxy acid

Answer 870

Gionatti-Crosti Syndrome aka papular acrodermatitis think Hep B if patient from a part of the world with limited vaccinations can also be caused by EBV treat for pruritis and screen for Hep B

Answer 871

Juvenile Plantar Dermatomyositis treatment: wear cotton socks, use emollients spontaneously resolves by adolescence

Answer 872

Nevus Sabaceus they are mostly benign but remove due to risk of malignancy

Answer 873

Nevus flameus

Answer 874

Ecthyema Gangrenosum treat for Pseudomonas

Answer 875

Transient neonatal pustular melanosis most often in African Americans different from neonatal staph which would have neutrophils and gram positive cocci with a positive bacterial culture

Answer 876

Erythema Toxicum

Answer 877

Neonatal impetigo S aureus >>> strep

Answer 878

For kids use topical salicylic acid as the original approach to removing warts (aka verrucae)

Answer 879

oral griseofulvin

Answer 880

lysosomal storage disease

Answer 881

Atopic dermatitis, extensor/facial in less than age 2, flexural in child older than age 2. Ointments are the best as creams can have a net drying effect superinfection with staph aureus is impetigo

Answer 882

Staph Scalded Skin

Answer 883

SJS and TEN are severe drug reactions that lead to bullae and skin sloughing —> mucus membranes and eyes are involved You get target like lesions with dusky centers in the skin as well as erosions and crusting or the oral mucosa conjunctival injection occurs 1-2 days before onset of rash and progresses to purulent conjunctivitis

Answer 884

SJS < 10%, TEN (full thickness) > 30%

Answer 885

Papular Urticaria hypersensitivity to bites lesions enlarge and become edematous skin biopsy is dermal and epidermal with eosinophils can spot treat with medium potency topical corticosteroids

Answer 886

Tinea Corporis

Answer 887

Granuloma Annulare resolve without intervention required steroids can sometimes help speed up the process though no scale unlike guttate psoriasis

Answer 888

first line is clotrimiazole, second line is terbinafine

Answer 889

Tinea Pedis if you see associated vesicles on the palms and fingers this is called autoeczematization aka id reaction caused by systemic absorption of fungal products

Answer 890

Ketoconazole spaghetti and meatball appearance on stain

Answer 891

Tinea capitis Gold standard of diagnosis is fungal culture of the scalp treat with 6-8 weeks of griseofulvin

Answer 892

Incontinentia Pigmenti 1 st phase has inflammatory vesicles and bullae on the trunk and extremities associated with peripheral EOSINOPHILIA 2nd phase is when the vesicles clear spontaneously and are replaced by irregularly linearly distributed verrucous lesions on the extremities, hands or feet 3rd phase is thin bands of swirly brownish blue gray pigmentation that coalesce and darken further before slowly fading and leaving behind streaks of atrophy and hypo pigmentation

Answer 893

Pityriasis alba

Answer 894

PLEVA: pityriasis lichenoides acuta et varioliformis treat with 1-2 months of erythromycin PO

Answer 895

Ectodermal (teeth hair nails) dysplasia

Answer 896

Sarcoidosis

Answer 897

Lichen Striatus

Answer 898

Lichen sclerosis treat with topical steroids if not treated, can result in scarring to the clitoral hood and entrapment of glans leading to sexual dysfunction scarring can also increase risk of squamous cell carcinoma

Answer 899

beta hemolytic strep, beçhets disease, EBV, crohns

Answer 900

Guttate Psoriasis

Answer 901

Becker nevus

Answer 902

Nevus of Ota

Answer 903

PHACES Syndrome get eye exam for risk of glaucoma

Answer 904

Strep pyogenes treatment is amoxicillin or cephalosporin

Answer 905

Aplasia Cutis Congenita Associated with Tris 13/18

Answer 906

Keratosis Pilaris

Answer 907

Test for 17-OH progesterone in infantile acne and treat with benzoyl peroxide to prevent scarring think of this diagnosis when acne occurs after the postnatal period of 2-4 weeks of life infantile acne occurs at 2-4 months of age and is caused by androgenic stimulation of the sebaceous glands

Answer 908

Phytophotodermatitis tx is wet dressing, topical steroids

Answer 909

Rosacea Treat with topical metronidazole

Answer 910

Dishydrotic eczema can treat with topical corticosteroids and wet compresses careful with long term use of steroids as you can get skin atrophy, HYPOpigmentation, and telangiectasis associated with hyperhidrosis

Answer 911

alopecia areata associated with autoimmune disorders including thyroid disease usually resolves in 6-24 months can treat with topical steroids

Answer 912

Neonatal lupus lesions are erythematous, well-circumscribed, annular plaques leave behind a central ecchymotic atrophic area as they expand

Answer 913

Erythema Multiforme supportive treatment as they clear in 1-3 weeks, consider acyclovir for recurrent disease

Answer 914

Dermatitis herpetiformis treat with a gluten free diet and oral dapsone

Answer 915

telogen effluvium

Answer 916

IgA bulbous dermatitis dapsone is used to treat

Answer 917

Mycoplasma induced rash and mucositis (MIRM) supportive care but consult ophthalmology

Answer 918

Bronchogenic cysts diagnose with CT/MRI and treat with excision

Answer 919

Laryngomalacia

Answer 920

Tracheomalacia

Answer 921

Infection with or without bronchiectasis The combination of hemoptysis with multifocal findings on CXR, urinary findings (dark urine and increased Cr), anemia, and increased platelets suggests a vasculitis Measuring an ANCA would be helpful for diagnosis

Answer 922

Hemosiderosis Can see anemia on CBC No evidence of autoimmune disease

Answer 923

Lymphocytic Interstitial Pneumonitis

Answer 924

Croup is parainfluenza; Tracheitis is staph

Answer 925

Trick question! no long term effects on linear growth or adult height

Answer 926

primary ciliary dyskinesia must rule out CF preferred test in patients 5 year and up is measurement of exhaled nasal nitric oxide

Answer 927

Spirometry provides objective information about airway obstruction If there is sign of airway obstruction on spirometry, repeating spirometry 15 to 20 minutes after administration of inhaled bronchodilator could establish reversible airflow obstruction, indicating the diagnosis of asthma Beta-blockers can worsen asthma

Answer 928

Tracheal stenosis

Answer 929

Pulmonary airway malformation overgrowth of multicystic masses of lung tissue

Answer 930

Bronchiectasis diagnose with CT to see dilated bronchi

Answer 931

Histoplasmosis diagnose with serologies treat is supportive if isolated Amphotericin if disseminated

Answer 932

Coccidiomycoses diagnose with IgM/IgM Cocci titers, complement fixation titers are used to monitor disease self-limited seen in AA and Filipino ancestry, 3rd trimester women, and infants

Answer 933

Blastomycosis diagnose with culture from affected sputum or tissue (broad-based budding yeast)

Answer 934

Exercise-induced vocal cord dysfunction definitive diagnosis with direct video laryngoscopy treat with speech therapy

Answer 935

risk of tumor is highest in children less than 8 years of age so do an abdominal US q3 months until age 8 send an AFP q3 months until age 4 to detect for hepatoblastoma

Answer 936

AFI, Breathing, Activity, HR, Non-Stress Test; score of 8-10 is good Non-Stress Test is good with 2 accels, 120-160 HR; negative with hypoxia that inactivates cardiac reflex Positive Stress Test: decels which are bad

Answer 937

presents with irritability, jitters, loose bowel movements tx: morphine, methadone

Answer 938

should follow up for HYPERcalcemia during the first 6 weeks of life (measure levels every 1-2 weeks) increased irritability, poor feeding, constipation, seizures, renal failure, arrhythmia presents as NONtender nodules/plaques within first month as they heal they become fluctuant because the fat liquefies

Answer 939

Hypernatremia in neonates is secondary to dehydration and prematurity Decreased Phos in neonates is due to sepsis or rickets Hyperkalemia is due to adrenal hyperplasia (ambiguous genitalia)

Answer 940

Vernix covers the entire body at 24-38 weeks (Viable pregnancies have vernix) No breast tissue at less than 36 weeks, at 34-36 weeks can have 1-2 mm breast tissue Scant ear cartilage and slow return of folding at 32-35 weeks, at 34-36 weeks there is soft ear cartilage with instant recoil Period breathing occurs at 34-36 weeks gestation 1-2 anterior sole creases between 32-33 weeks Basically at 34-36 weeks you have breast tissue, ear recoil, periodic breathing, and 2-3 anterior sole creases

Answer 941

Erb’s palsy, brachial plexus injury C5-C6 can affect the phrenic nerve leading to diaphragmatic paralysis and respiratory distress confirm with fluoroscopy which will reveal an elevated diaphragm on the same side as the palsy

Answer 942

Klumpke Palsy is C8-T1

Answer 943

Most natal teeth are prematurely erupting deciduous teeth; don’t extract until X-ray proves that they are supranumery

Answer 944

Infants born at less than 30 weeks and less than 1500g should be tested for ROP screen them when they are 31 weeks or 4 weeks after birth, whichever occurs first

Answer 945

oligohydramnios 1st trimester PDA, septal defects 2nd trimester: renal anomalies limb, hand anomalies, wide separated eyes, flattened face from compression in uterus from low amniotic fluid can have pulmonary hypoplasia resulting in death dont breastfeed while on ACEIs

Answer 946

nasal hypoplasia and stippled epiphysis as well as bleeding

Answer 947

Increased AFP = NTDs, gastroschisis, omphalocele Decreased AFP = Trisomies - Trisomy 21 has increase hCG while 18 has decreased hCG

Answer 948

small left colon and cardiomyopathy

Answer 949

Phenytoin Embryopathy leads to bleeding in the first 24 hours as medication interferes with Vitamin K leads to cleft palate, absent digits, coarse hair, micrcephaly

Answer 950

Criggler Najjar: Type 2 with less activity and can treat with 7-10 days of phenobarbitol; complete absence of UDT

Answer 951

renal vein thrombosis consider perinatal asphyxia

Answer 952

potter sequence can get pulm HTN, portal hypertension, and ascending cholangitis

Answer 953

Prune-Belly Syndrome: aka Eagle-Barrett

Answer 954

SSRIs in pregnancy lead to PPHN and neonatal abstinence syndrome exposure in late pregnancy can result in poor neonatal adaptation meaning that the newborn will have hypothermia, loose stools, vomiting, feeding difficulties, poor sleep, excessive crying, jitters symptoms resolve by 1-2 weeks of age

Answer 955

Symmetric IUGR: head is proportionately small —> Chronic EtOH use Asymmetric IUGR: placental insuff, multiple gestations, chronic hypertension, high altitude - kids with iugr are at risk of hypertension and metabolic disease down the line

Answer 956

Worry about hydrops fetalis in TTTS, can occur in both of the twins in the donor twin, it is because of anemia in the recipient, it is because of polycythemia and hyper viscosity resulting in fluid overload

Answer 957

Subgaleal hemorrhage is rupture of emissary veins that connect the dural sinus and scalp veins

Answer 958

Caudal regression syndrome seen in infants of diabetic mothers

Answer 959

delivery room temperature should be 71-78 (22-26)

Answer 960

Breastfeeding jaundice can persist for 2-3 months, presents in the 1st week of life with jaundice, dehydration, and weight loss caused by hypovolemia

Answer 961

Breastmilk jaundice presents at 3-5 days of life and peaks within 2 weeks after birth; it declines after 3-12 weeks; elevated beta-glucoronidase that prevents bilirubin from conjugating and makes it available for reabsorption dont forget about increased turnover of erythrocytes as another cause of jaundice

Answer 962

< 2 cm Most common cause of micropenis is decreased GnRH

Answer 963

Galeazzi sign at 8-10 weeks is a sign of developmental dysplasia of the hip; defined by asymmetry of the knees; babies have limited hip abduction

Answer 964

Polysomnography with latency tests

Answer 965

Can treat myasthenia gravis with pyridostigmine which is an Acetylcholinesterase inhibitor so it prevents the degradation of ACh in the NM

Answer 966

Only treatment for migraines (and abdominal migraines) in age 6-12 is RIZATRIPTAN (selective serotonin receptor antagonist) migraines in children are bilateral and usually without aura for chronic migraines with an aura that persist despite preventative approaches, you can use topiramate which is indicated for migraines that occur 2-3 times per week or are prolonged and debilitating - is approved for migraine ppx in age 12-17 - be careful though as side effect is acute angle closure glaucoma Verapimil is good for cluster headaches nasal sumatriptan cam be used for abortive treatment in > 18 years of age

Answer 967

spasmus nutans presents in the first year of life and resolves during childhood

Answer 968

Nystagmus is divided into 2 types: jerk nystagmus (slow movement to one side with a fast corrective jerk to the opposing side) pendular nystagmus (which is a slow sinusoidal oscillation lacking a fast component)

Answer 969

Spinal Muscular Atrophy aka Werdnig Hoffman

Answer 970

Caudal Regression Syndrome defects in sacral region (small pelvis, limb deformities) with motor and sensory deficits below area can be associated with VACTERL associated with diabetes (including gestational) and folate deficiency

Answer 971

Hypsarrythmia aka infantile spasms often associated with developmental regression tx: IM ACTH or PO vigabatrin (drug of choice in tuberous sclerosis)

Answer 972

Benign Paroxysmal Vertigo of Childhood family history of migraines age 1-4

Answer 973

Juvenile Myoclonic Epilepsy tx: valproate usually with good response consider keppra or lamotrigine in post-pubertal girls as valproate has a risk of NTDs

Answer 974

Benign neonatal seizures can present in the first 4-7 days with normal pregnancies and APGARs work up is normal and there usually isn’t any family history; no risk of seizure disorder or neurologic issues in the future

Answer 975

Chiari I: tonsils into the Forman magnum Chiari II: cerebellar vermis, 4th ventricle, medulla into Foramen mangum (associated with myelomeningocele)

Answer 976

Transverse Myelitis has lymphocytic pleocytosis and elevation in protein

Answer 977

Friedrich Ataxia

Answer 978

Charcot-Marie Tooth

Answer 979

Benign Epilepsy with centrotemporal spikes (BECTS)

Answer 980

Marcus Gunn phenomenon secondary to abnormal innervation of the trigeminal (controlling muscles of mastication) and the oculomotor nerve (controlling the elevator palpebrae superiors) benign but sometimes can require surgical intervention if ptosis is severe

Answer 981

Stickler Syndrome: connective tissue disorder Pierre Robin sequence

Answer 982

Kabuki Syndrome Resembles japanese makeup

Answer 983

MELAS get lactic acidosis in serum and in CSF

Answer 984

Hereditary Hemorrhagic Telangiectasia Osler-Weber Rendu

Answer 985

Caffey DIsease treat with prednisone and indomethacin resolves by 2 years of age

Answer 986

Myotonic Dystrophy

Answer 987

Thanatophoric dysplasia

Answer 988

Cleidocranial Dysostosis

Answer 989

Myotubular Myopathy maturational arrest of fetal muscle X-linked recessive diagnosed with muscle biopsy that shows evidence of small muscle fibers with abnormal nuclei

Answer 990

Hyperammonemia + Acidosis (+ Ketosis) = Organic Acidemia Hypoglycemia – Ketosis + Acidosis = Fatty Acid Oxidation Disorders (DOES NOT HAVE KETONES) Hypoglycemia + Ketosis + Lactic Acidosis = Glycogen Storage Disorder or Hereditary Fructose Intolerance (HAS KETONES) Very High Lactate Without Hypoxia or Other Causes = Mitochondrial/Respiratory Chain Disease or Pyruvate Dehydrogenase Deficiency

Answer 991

organic acidemia acute treatment is D10 with electrolytes, carnitine to reduce toxins, and dialysis if needed long term treatment is protein restriction, special formula, and carnation Diagnose with urine organic acids Propionic Acidemia: cofactor is biotin MDMA: cofactor is cobalamin

Answer 992

urea cycle disorder test with plasma amino acids and urine orotic acid treat with calories to prevent catabolism

Answer 993

OTC deficiency this is a defect in ornithine transcarbamylase important to start hemofiltration, dialysis, protein restriction early BUN is low because they aren’t making urea treat short term with D10, dialysis if needed, and long term with protein restriction, special formula

Answer 994

causes vomiting, tachypnea (because of the high ammonia), leathery, coma. Survivors will have developmental delay Urea Cycle disorders present in the latter half of the first week of life (maternal enzyme protects in utero)

Answer 995

Very Long Chain Acyl-Coenzyme A dehydrogenase deficiency hypoketotic hypoglycemia, hepatic dysfunction, elevated CK abnormal acylcarnitine analysis and increase dicarboxylic acids on urine organic acid analysis avoid fasting, give carnitine if low, low fat diet, and MCT oil

Answer 996

Fructose Intolerance fructose 1 phosphate aldolase deficiency treatment is to avoid fructose and sucrose

Answer 997

Smith-Lemli-Opitz Is autosomal recessive

Answer 998

X-linked recessive: males predominantly affected, females are carriers X-linked dominant: females affected, males have severe/lethal phenotype AD inheritance: both sexes equally affected, both sexes transmit to the offspring, present in all generations, every affected child has an affected parent, fathers can transmit to sons

Answer 999

fulminant meningococcal disease (test with CH50)

Answer 1000

DRESS Syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) can have reactivation of ***HHV-6*** as well as EBV, CMV, and HHV-7

Answer 1001

Chediak-Higashi Syndrome defect in lysosomal degranulation and NK cell function —> increased risk of infections can get ataxia and photophobia succumb to lymphoma like illness tx is a BMT

Answer 1002

Urticaria Pigmentosa increase urine histamine and serum tryptase

Answer 1003

IgA Bullous Dermatosis stop medication or use dapsone resolves by 2nd decade

Answer 1004

HyperIgM Syndrome mutations in CD40 ligand on T cells

Answer 1005

Think IgA deficiency diagnosed after age 4 will not have a reaction if they get washed red blood cells is associated with autoimmune diseases if patient ever needs ivig, give a product with low IgA content as they could have preformed antibodies against IgA

Answer 1006

Sever apophysitis trial heel cushions to protect injured calcanea growth and ice for 10-15 minutes multiple times per day

Answer 1007

medial epicondyle apophysitis Low threshold for getting X-rays in a pediatric patient with overuse elbow pain as growth plate fractures are common in the pediatric elbow

Answer 1008

ACL injuries most sensitive test is the Lachman test which evaluates anterior translocation of the tibia

Answer 1009

Meniscal injuries are much less common in kids than in adults McMurray test: external rotation traps the medial meniscus, whereas internal rotation traps the lateral meniscus in the presence of a tea, pain along the joint line of the injured meniscus is elicited with an audible pop medial meniscus gets injured more than the lateral minimal effusion with localized pain

Answer 1010

Tennis elbow is extension of the wrist which leads to swelling of the lateral epicondyle golf and baseball is the median epicondyle our to flexion

Answer 1011

Spondylolysis further evaluate with MRI when the X-rays are normal Spondilolisthesis is slippage of L5 over S1

Answer 1012

Refer to ortho for tibial torsion that lasts longer than 8 years

Answer 1013

Osteochondritis Dissecans

Answer 1014

Genu Valgum: knock knees Genu Varum: bowing of the legs birth to 2 years is varum 2-4 years is valgum

Answer 1015

Idiopathic Tibia Vara - Blount disease

Answer 1016

Scheuermann Disease aka Juvenile Kyphosis

Answer 1017

Chondromalacia of the patella strengthening the quadriceps improves patellar alignment

Answer 1018

check UA, serum albumin, renal function test, complement levels, and serologies patients will have proteinuria, edema, decreased albumin, and increased lipids

Answer 1019

Yes, depends on the age Renal sono is recommended for all infants (2-24 months) with a first febrile urinary tract infection and voiding cystourethrogram is indicated if renal sono findings are abnormal or in children with recurrent UTIs

Answer 1020

Fibromuscular Dysplasia

Answer 1021

Post-strep GN: diagnose with deoxyribonucleosidas

Answer 1022

Minimal Change Disease diuretics increase risk of renal vein thrombosis

Answer 1023

Post-infectious GN: C3 low (normal in 6 weeks), C4 is normal IgA nephropathy: C3 normal Lupus, MPGN: C3/4 are both low

Answer 1024

flank mass + red urine + HTN+ decreased Plts + IDM=renal artery /vein thrombosis flank mass +red urine + HTN+n/v=UPJ obstruction red urine + trauma+ HTN+Fhx of renal disease=ADPKD flank mass + red urine + HTN +n/v + Beckwith Wiedemann=Wilms Influenza A + severe myalgias + brown urine + 3-5 RBCs/hpf=rhabdo new born+breastfed +irritable+weight loss + UA with no RBCs=urate crystals b/l flank mass + oligo+pulm hypoplasia+/-hematuria + hyponatremia + HTN=ARPKD new born + most common flank mass + picture=multicystic dysplastic kidney (one kidney not picking up on Mag scan)

Answer 1025

PSEUDOhyperkalemia is often due to a hemolyzed specimen, Platelets > 450, or WBC > 100 caused by hemolysis, leukocytosis, or thrombocytosis

Answer 1026

HyperK = low aldosterone treat with insulin, albuterol, NaBicarb, LASIX

Answer 1027

MUDPILES: Methanol, Uremia, DKA, Paraldehyde, Isoniazid/Iron, Lactic Acidosis, Ethylene Glycol, Salicylates (HIGH ANION GAP) Low anion gap is associated with hyperkalemia, hypercalcemia, hypermagnesemia, and low albumin

Answer 1028

Cross sectional studies compare at a particular time for a particular population the prevalence of specific exposures

Answer 1029

Hyperglycemic Hyperosmolar State treat with IV NS bolus and repeat as needed to restore perfusion; usually requires a LOT of fluids Insulin is indicated at a later time and at lower doses than compared to DKA (and don’t bolus the insulin)

Answer 1030

get an insulin, lactate, glucose, beta-hydroxybutarate, free fatty acids, cortisol, and GH increased serum and urine ketones

Answer 1031

Hyperinsulinism at the time of hypoglycemia: detectable insulin level, low beta-hydroxybutyrate and free fatty acid levels, and an increase in plasma glucose by more than 30 after glucagon administration

Answer 1032

can occur after discontinuation of steroids because the HPA axis remains suppressed for a while decreased activity, poor feeding, hyponatremia, abdominal pain, hypoglycemia can present with salt craving and dehydration

Answer 1033

autoimmune destruction of adrenals —> increased ACTH —> hyperpigmentation low cortisol —> decreased cardiac output and vascular tone as well as hypoglycemia also with decreased aldosterone so decreased Na and increased K low Na because of a lack of mineralocorticoids. Hyperkalemia. Low cortisol.

Answer 1034

absence of menses for > 3 months in women who previously had normal menses or for 6 months in those with irregular cycles Progesterone test is used to assess whether there is adequate estrogen effect on the uterine lining if the uterine lining is built up adequately by normal estrogen, then exogenous progesterone will cause the lining to change to secretory lining and upon withdrawal of the progesterone, the lining will shed

Answer 1035

Androgen Insensitivity Syndrome increased testosterone —> increased estrogen

Answer 1036

in an infant with atypical genitalia defect in the androgen receptor in complete androgen insensitivity, the external genitalia is phenotypically female

Answer 1037

high PTH-rP level

Answer 1038

Hyperparathyroidism: high PTH, high serum and urine Calcium, serum Phos is low because of renal phos wasting secondary to high PTH HYPOparathyroidism: decrease Ca, increase Phos, decrease PTH PSEUDOhypoparathyroidism (when the receptor doesn’t work): increased PTH, increased phos, decreased calcium —> weight > height - shortened 4/5th digit The number one trigger for PTH is low phos

Answer 1039

high ALP with normal PTH renal phos wasting impaired stimulation of the 1-alpha-hydroxylase that occurs when a patient has low phos so 1,25-Vit D is abnormally normal treat with phos and Vitamin D

Answer 1040

Neonatal HypoCA seizures early are caused by sepsis, IUGR, GDM, asphyxia but caused by low PTH later on

Answer 1041

SIADH (low Na and uric acid)

Answer 1042

Diabetes Insipidus central is secondary to low ADH (CNS injury, head trauma), genetic, absent pituitary craniopharyngiomas, germinomas, langerhans cell histiocytosis diagnose with urine and serum osmolality and sodium tx: hydrate with oral free water, DDAVP Nephrogenic: renal resistance to ADH - no change in urine concentration with water - tx: HCTZ

Answer 1043

Congenital Growth Hormone Def consider when there are central midline defects consider when there is an isolated central incisor Side effects of growth hormone: head shoulders knees and hips - Pseudotumor, scoliosis, SCFE, and insulin resistance

Answer 1044

Mayer-Rokitansky-Kuster-Hauser Syndrome

Answer 1045

Craniopharyngioma

Answer 1046

GH, cortisol, insulin, ketones, lactate, pyruvate GH and Cortisol should increase when hypoglycemic, so if they dont, consider adrenal insufficiency or GH def

Answer 1047

5 alpha reductase deficiency Results in a low DHT level —> high testosterone to DHT ratio

Answer 1048

rule out late onset CAH and tumors send testosterone, DHEAS, androstenedione, bone age, 17-OHP no need to send thyroid studies if the testes are normal in size

Answer 1049

thyroxine binding globulin def

Answer 1050

Max female growth velocity is 2 years after menarche which starts at SMR4

Answer 1051

in DKA, continue IV insulin until ketones are gone when glucose is 250-300, add glucose to IVF

Answer 1052

PTH = Phos Trashing Hormone Increased PTH —> Increased Ca resorption, decreased phos, increased urine Phos, and increased Vitamin D Decreased Ca = Increased PTH Vitamin D —> increased Ca and Phos absorption in the gut

Answer 1053

Adrenal Hypoplasia Congenita treat with lower doses of hydrocortisone

Answer 1054

Muckel-Wells syndrome Inhibits IL-1 pathway so can use anakinra to treat it

Answer 1055

in hepatocytes from cholesterol

Answer 1056

cholic acid and chenodeoxycholic acid These are conjugated to glycine and taurine

Answer 1057

Primary bile acids enter the intestine and colon and are deconjugated by intestinal bacteria to become deoxycholic and lithocholic acid These are highly insoluble and most are excreted in the feces while some are carried back to the liver

Answer 1058

1. eliminate cholesterool from the body 2. promote the secretion of bile 3. they are part of the biliary route that excretes toxic substances 4. the detergent action of bile acids facilitates the absorption of fats and fat soluble vitamins 5. preserves body mass and helps with glucose metabolism

Answer 1059

Total serum BAs are low or normal GGT is normal or minimally elevated (this is usually high in cholestatic infants) Absence of pruritus

Answer 1060

FABMS Fast Atom Bombardment Ionization Mass Spectrometry in the urine

Answer 1061

Beta-hydroxy C-27 steroid oxidoreductase/hydrogenase deficiency leads to progressive jaundice increased LFTs, NORMAL GGT, increased direct bili, low to normal serum BAs Hepatomegaly with malabsorption, fat soluble vitamin def and rickets

Answer 1062

decreased primary bile acids and increased di- and trihydroxy cholenoic acids treat with cholic acid (Cholbam)

Answer 1063

Alpha methylacyl-CoA racemase deficiency

Answer 1064

Malabsorption and fat soluble vitamin deficiency Conjugated hyperbilirubinemia, cholestasis, and liver failure Diagnose by FABMS (complete abscence of glycine and taurine Treat with primary conjugated bile acids and fat soluble vitamins

Answer 1065

glucose, galactose and fructose

Answer 1066

Hypoglycemia, acidosis, growth failure, and hepatic dysfunction

Answer 1067

Galactosemia Deficiency in galactose-1-phosphate uridyltransferase (GALT)

Answer 1068

Newborn screen Urine reducing substances are positive without glucosuria Decreased GALT activity in RBCs (but transfusions can make this confusing)

Answer 1069

Eliminate galactose from the diet and switch to soy or hydrolyzed formulas Older kids should avoid milk containing products, black beans, and garbanzo beans

Answer 1070

Galactokinase deficiency Treat with a lactose free diet

Answer 1071

Hereditary fructose intolerance

Answer 1072

Fructose 1,6-bisphosphatase deficiency Diagnose with liver biopsy or genetic testing Treatment is to avoid long periods of fasting and limit fructose and sucrose

Answer 1073

1a von Gierke Disease Defect in glucose-6-phosphatase

Answer 1074

1b von Gierke Disease Defect in Glucose 6-phosphatase translocase

Answer 1075

1c von Gierke Disease Defect in Phosphatase Translocase

Answer 1076

II Pompe Disease Defect in alpha 1-4-glucosidase (acid maltase)

Answer 1077

Cori, Forbes Disease Defect in debranching enzymes

Answer 1078

Andersen Disease Defect in Branching enzyme alpha-1,4-glucan 6 glucotransferase

Answer 1079

Hers Disease Defect in Liver phosphorylase E

Answer 1080

GSD IX (alpha) Its the only one that is X-linked recessive Defect in liver phosphorylase kinase

Answer 1081

GSD XI Defect in GLUT2 transporter