Final Study - Pediatric Boards Flashcards
- Most common malignant liver tumor in kids
- presents in infancy as a single mass
- complete resection and chemo –> survival rates reach 50%
Hepatoblastoma
- common in children on chronic TPN and pregnant adolescents
- children with sickle cell are prone to this
- most common complication is pancreatitis due to obstruction in common bile duct
Cholelithiasis
Child presents with
- peripheral pulmonary artery stenosis
- Tet of Fallot
- Butterfly Vertebrae
- prominent forehead, small pointed chin, saddle nose
- neonatal cholestasis (paucity of small intrahepatic ducts)
- posterior embryotoxon of the eye (get eye exam for prominent white ring of schwalbe and iris strands)
- AD, JAG1 on chrom 20p
Alagille’s Syndrome
15 yo F presents with malaise, weight loss, anorexia, occasional jaundice
- she has ANTI-SMOOTH MUSCLE ANTIBODIES
- affects girls > boys
- ANA positive
- Family history of other autoimmune disorders
- high IgG levels (high total protein)
- women are at risk when they take minocycline
Autoimmune Hepatitis Type 1
Type 2: anti-LKM - more likely to have treatment failure so need immunosuppression for life
4 month old presents severe pruritis, diarrhea, direct hyperbili, NORMAL GGT
- bile is not formed properly
- severe cholestasis
- presents between 3 and 6 months
Progressive Familial Intrahepatic Cholestasis Type 1 (Type 2 also has NORMAL GGT, elevated in Type 3)
- autosomal recessive
- disorder of copper metabolism (decreased biliary excretion)
- excessive accumulation of copper in eyes, liver, kidney, and brain
- Kayser-Fleischer rings in the cornea
- decreased ceruloplamin
- treat with D-penicillamine
Wilson’s Disease
3 day old presents with severe indirect hyperbilirubinemia
- disorder of bilirubin conjugation
- not enough glucuronosyltransferase
- this type is due to complete absence of bilirubin uridine diphosphate glucuronosyltransferase (UDP-GT)
- Treat with phototherapy and/or exchange transfusion
- May require liver transplantation
Crigler-Najjar Syndrome Type 1 - Severe (CN1)
- Most common infectious cause of chronic liver disease in the US
- 0.1-0.2% prevalence in children
Hepatitis C Virus
Who is more likely to develop chronic Hep B if they are infected with the Hep B virus?
- infant vs 5 year old vs 17 year old
Infant
- The reason why we screen for Hep B in pregnancy and delivery
- infants born to mothers with Hep B has 90% risk of having chronic hep B
- risk is 25-50% for age 1-5 years
- risk is 5% for adolescents and adults
Only hepatitis virus composed of DNA
- (remainder are RNA)
+HbsAg, +HBE Ag
If cleared, HBsAb
core Ab rises early in course of infection
chronic: +HBsAg, Hep B core Ab, -HBsAb
Hepatitis B Diagnoses
Extrahepatic manifestations: rashes, arthritis
2 year old child is exposed to Hep A at day care and has not received the vaccine
- What is the best prophylaxis?
- When do you give IG?
- Who gets prophylaxis? Who doesn’t?
Hep A Vaccine!
- preferred prophylaxis for > 12months of age
- immunoglobulin if less than 12 months of age
- All household contacts, sexual or needle-sharing partners, daycare attendees in close contact need prophylaxis
- school, hospital, or wrkplace day-to-day contact do not need prophylaxis
Lab test used to diagnose acute Hep A
Anti-HAV IgM (high titers in serum indicate acute infection)
Child with mumps has mid-epigastric abdominal pain, nausea, emesis, tender abdominal exam, mildly elevated serum lipase
Other etiologies include:
- blunt abdominal trauma
- multisystem disease
- biliary obstruction
- alcohol
Diagnose with lipase >4x normal, CT or US
Acute Pancreatitis
Best diagnostic test for Hirschsprung
Suction rectal biopsy
- absence of any ganglion cells detected in biopsy containing adequate submucosa
Term infant has not passed meconium within 48 hours of birth
- MCC of lower intestinal obstruction in neonates
- absence of enteric ganglionic neurons beginning in the anus
- 99% of infants pass meconium within 48 hours
- in this disease, 94% fail to pass meconium within 24 hours
Hirschsprung Disease
Most common cause of rectal bleeding in children of all ages
Anal Fissures
- located on posterior or anterior anal verge
6 month old presents with rectal prolapse. What are the causes?
- Constipation
- Diarrhea (from infections like shigella)
- CYSTIC FIBROSIS
Newborn presents with rectum completely closed off and not communicating with anus or skin, Rectum is 2 cm above the perineal skin
- seen more often in Down Syndrome
Imperforate Anus without Fistula
Abdominal wall defect, 3 cm in size, to the right of the umbilicus
Exposed loops of small and large intestine
- commonly associated with a midgut volvulus
- caused by a vascular accident involving the right umbilical vein or right omphalomesenteric artery
Gastroschisis
- Newborn with defect in abdominal wall at umbilicus
- defect contains hollow and solid visceral organs
- 6 cm in size and covered by peritoneal membrane internally and amniotic membrane externally
- associated with chromosomal abnormalities
Omphalocele (umbilical hernias are < 4 cm and only contain intestine)
Hamartomatous polyps*
Hemihypertrophy*
Gigantism of extremities
Angiomas
Pigmented Nevi
- mutation of AKT1 gene which regulates cell growth and division
- not an inherited defect but occurs randomly during fetal growth
Proteus Syndrome
Multiple hamartomas in the skin, mucuous membranes, breast, thyroid, hyperkeratotic papillomas of the lips and tongue
- mutation on PTEN tumor suppressor gene on 10q22
Cowden Syndrome
Bowel involvement anywhere from mouth to anus Skip lesions Transmural lesions Granulomas on biopsy with decreased goblet cells and crypt abscesses Weight loss Perianal lesions Aphthous Ulcers TI is most commonly involved Erythema Nodosum
Crohns Disease
Colon and rectum only Continuous lesions Mucosal lesions only No perianal lesions No aphthous ulcers Migratory arthritis that is asymmetric Ankylosing spondylitis, erythema nodosum, and pyoderma nodosum (PAINFUL ulcerations, do not debride, treat with steroids and topical tacrolimus)
Ulcerative Colitis
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?
Celiac Disease
Biopsy findings
- Type 1: intraepithelial lymphocytes
- Type 2: intraepithelial lymphocytes and crypt hyperplasia
- Type 3: intraepithelial lymphocytes, crypt hyperplasia, and villous atrophy
Which vitamin is absorbed in the ileum?
Jejunum?
Duodenum?
Ileum: B12
- differentiate from folate deficiency because B 12 def has neurologic symptoms
Jejunum: folate
Duodenum: Iron
Most reliable noninvasive test for lactase deficiency
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
Best test for lactase deficiency
Direct assay from mucosal biopsy
- Painless rectal bleeding in children < 2 years of age
- 2% of population
- 2 feet from ileocecal valve
- 2 inches in length
- 2 cm in diameter
- 2:1 male to female
- Incomplete closure of the omphalomesenteric duct
Meckel’s Diverticulum
Newborn with stigmata of Trisomy 21 with history of polyhydramnios, dilated stomach. Child has double-bubble sign on xray
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
7 month old presents with abdominal pain, vomiting, bloody stools (currant jelly), palpable mass in abdomen
- most commonly seen in age 4-10 months but can occur between 2 months and 5 years
- AIR CONTRAST ENEMA to diagnose and treat***
Intussusception
1 month old presents with acute bilious emesis, abdominal distention, irritability.
Upper GI show’s “bird’s beak” of the 2nd portion of the duodenum
Malrotation
- most common malrotation is nonrotation which presents with the cecum to the left and the small intestine to the right of the SMA
Most common cause of identifiable chronic gastritis in children?
Helicobacter pylori
- short period of increased acid secretion followed by marked decrease in acid production
- acute symptoms last about a week
6 week old caucasian boy presents with progressively worsening nonbilious projectile emesis, has an abdominal mass
Pyloric stenosis
- Low Cl alkalosis
- Low K (correct before surgery)
- more common in boys
- between 3 weeks and 2 months of age
Coin in esophagus
Observe for up to 24 hours if child is asymptomatic
4 year old swallows drain cleaner, dysphagia, and abdominal discomfort
When should he undergo endoscopy?
12-24 hours after ingestion
Prior to this may not show extent of injury and after 24 hours increases risk of perforation
Most common esophageal anatomic abnormality
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
Cyclic vomiting in kids
Ask about family history of migraines
- cyproheptadine
- amytriptiline if > 5 years old
In a child, severe calorie malnutrition without edema
Marasmus
- generalized loss of muscle and no subcutaneous fat
What disorder in children is seen with insufficient intake of protein resulting in edema?
Kwashiokar
- appears in children during the weaning or post-weaning process
- the rash looks like flaky paint (sharp borders that peel easily)
1 year old presents with irritability, anorexia, follicular hyperkeratosis, corkscrew-coiled hairs, gingival bleeding, normocytic normochromic anemia. What is the deficiency? What are signs of toxicity?
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
Important for maintanence of epithelial cell function
Night blindness Bitot spots (keratinization of the cornea) Xerophthalmia (dry eyes) Corneal opacities Growth failure Increased susceptibility to infection Increased risk of severe measles
What are the signs of toxicity?
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
Which vitamin functions as membrane bound anti-oxidant by inhibiting free-radical catalyzed lipid peroxidation and terminating radical chain reactions?
- deficiency can result in neurologic dysfunction and loss of reflexes
Vitamin E
- deficiency can also result in hemolytic anemia in premature infants because if increased radicals hemolyzing cells and enhanced fragility of RBCs
Vitamin needed to maintain prothrombin, Factor 7/9/10
Deficiency is seen in those with malabsorption or in newborns who haven’t developed significant bacterial GI flora
Vitamin K
2 nutritional cause of anemia
An infant who is given goat’s milk is most likely deficient in which vitamin?
Results in leukocyte and cellular immune deficiency
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
What deficiency is associated with paresthesias, foot and wrist drop (beriberi), ophthalmoplegia, ataxia, and confusion (wernicke)?
CARDIAC: edema, CHF, cardiomegaly
can be seen as a complication after gastric bypass surgery
Thiamine (B1) Deficiency
Results from B1 deficiency
Triad of ataxia, ophthalmoplegia, and confusion
Wernicke Encephalopathy
Deficiency associated with cheilosis (painful cracking at the corners of the mouth) and a sore tongue
This deficiency also interferes with iron absorption –> normochromic normocytic anemia
can occur with prolonged phototx
Riboflavin (B2) Deficiency
Deficiency associated with:
Dermatitis
Dementia
Diarrhea
Consumption of corn
What are the signs of toxicity?
Niacin (B3) deficiency
Tox: increased LFTs, tingling, itching
When should you supplement Iron?
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
What type of formula in galactosemia?
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
How to treat Vitamin D def
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
Vegans can have which nutritional deficiencies?
B12, Iron, Calcium, and Zinc (can be seen when sttarting cow’s milk)
How do you diagnose Hemochromatosis?
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
Rash associated with Celiac Disease
- Describe the rash
Dermatitis Herpetiformis
symmetrically distributed
papular-vesicular eruptions
Cause post-inflammatory hyperpigmentation
IgA deposition in the sub epidermal membrane
What should you be suspicious of when you have an increase p_ANCA in ulcerative colitis?
Primary Sclerosing Cholangitis
What are the precautions needed for Hepatitis A and how do you diagnose it?
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
Maternal cocaine and tobacco use is a risk factor for which GI congenital anomaly?
jejunal or ileal atresia
What medication should you avoid after varicella?
No salicylates for 6 weeks to avoid Reye Syndrome
How should you treat a severe episode of C difficile with hypotension, shock, fever, leukocystosis)?
Oral Vancomycin
Children less than age 5 are usually asymptomatically colonized so fo not need to test or treat
What medication can initially be used for symptomatic relief from achalasia?
Calcium channel blockers
But this can result in tachyphylaxis
A patient develops dysphagia. They have been on steroids. Endoscopy shows vesicles early but they quickly turn into erosive esophagitis with normal appearing mucosa in between.
Herpes Esophagitis
- in immunocompetent patients, it is usually reactivation vs primary disease
How to screen infants with perinatal Hep C virus exposure?
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
Refeeding Syndrome complications
increase glucose —> increase insulin —> more K going into the cells —> ST depression/U wave formation/T wave inversion
Complications of immediate diaphragmatic hernia repair
risk for GERD, growth failure, and pulmonary HTN; those who had a patch repair are at risk for repeat herniation
Juvenile Polyps
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
Hep B infant exposure and immunization
Can Hep B pos mother’s breastfeed?
What study is used to identify individuals at risk of spreading HepB?
What is the regimen for infants exposed to maternal Hep B?
What if maternal Hep B status is unknown?
When do you do post-vaccine testing?
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
Achalasia
Alacrima
Adrenal Insufficiency
Allgrove Syndrome
intestinal hematomas —> melena and hematemesis
lip/gum freckling that appear soon after birth
recurrent abdominal pain secondary to intussusception
increased risk of adenocarcinoma and breast cancer
Peutz-Jeghers Syndrome
colonic adenomas; APC mutation, 100% risk of colon cancer
FAP
small bowel and colon; extra teeth; APC mutation, 100% risk of colon cancer
Gardner’s Syndrome
Increased TBili 4-7 days after birth that can persist for 3-12 weeks (milk has beta-glucoronidase that deconjugates bilirubin)
Breastmilk Jaundice
Increased TBili secondary to insufficient intake
Breastfeeding Jaundice
Increased TBili
Normal LFTs
cannot conjugate bilirubin when ill because enzyme is down regulated
Gilbert’s Disease
Elevated unconjugated hyperbilirubinemia
This is from low levels of the UGT1 conjugating enzyme
Type 1 is complete absence, type 2 is near complete absence
Crigler-Najjar
No sucrase and decreased maltase
See when there is introduction of purees
Dx with hydrogen breath test
Sucrase-Isomaltase Def
Presents at birth with diarrhea, dehydration and metabolic acidosis; only fructose is tolerated
Glucose-Galactose Malabsorption
B6 Def (pyridoxine) def and tox?
Def: Seizures
Tox: neuropathy, ataxia
Manganese Def
poor bone and nail growth
Copper Def
neutropenia
brittle hair
osteoporosis
Vitamin E Def
Seen a lot in premature infants because Vitamin E doesnt get maternally transferred until third trimester
leads to edema, low platelets, hemolysis, anemia
Long term complications with long-term use of unsupplemented breast milk in premature infants
low protein at 8-12 weeks
low Na at 4-6 weeks
Zn deficiency at 2-6 months
An adolescent boy presents with dizziness, dilated pupils, delusions that he is someone else, and says that he sees smells and hears colors. What drug did he take?
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
18 year old male presents with chronic cough, phlegm, and wheezing. During the examination he also mentions that he has been having trouble at school and his grades haven’t been great. What illicit drug has he likely been taking chronically?
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
A 17 year old M presents with ataxia, euphoria, verbal abusive language that is uncharacteristic of him, thrashing out and difficult to control because he says people are out to get him. What illicit drug did he take?
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
An adolescent with known history of substance abuse is arrested after drunk driving. After 6 hours in jail he begins yawning. What substance does he use?
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
Which mineral deficiency has been associated with late-onset trichotillomania?
Iron Deficiency
When children with ADHD are placed on stimulant medication, what disorder may be unmasked?
Tic Disorder
- only discontinue medication if tic disorder is worse than ADHD symptoms
Which endocrine abnormality is more common in children with ADHD?
Thyroid abnormalities
Maladaptive behaviors (tantrums, mood swings, self-injurious behaviors) are common in children with autism. What medication is usually prescribed to treat these behaviors?
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
How soon after foster care placement is an initial health screening needed?
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
Most frequently abused substance in adolescents?
Alcohol
A teenager presents with a chronic cough. He smokes 1-2 packs of cigarettes per day and has been smoking for 3 years. If you advised him to stop smoking abruptly on his own, what symptoms would you expect?
Dysphoria, sleep disturbance, irritability, anxiety, restlessness, and increased appetite
An adolescent presents to the ER after binging on amphetamines. Body temperature and systemic blood pressures are elevated and he has an irregular heart beat. How do you manage this patient?
Cooling blankets, Lorazepam/Diazepam
Amphetamines and Opioids can last in the system for 24-48 hours
false positive with bath salts
A healthy teen presents to the ER after a syncopal episode after huffing room deodorizer. What do you look for in evaluation of this patient?
Hypotension, cutaneous flushing followed by vasoconstriction, tachycardia, inverted T waves and ST depression
- Methemoglobinemia has been reported with amyl nitrate (normal Pa02)
What medication should you consider in a patient with ADHD who does not respond to stimulants?
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
What are the side effects of androgenic steroid use?
Testicular atrophy, gynecomastia, irregular periods, premature epiphyseal closure, tendon rupture, increased LFTs, jaundice, hepatitis, mood disorders
Seen between age 18-36 months
Males die in utero
Earliest sign is deceleration of head growth at 6 months
Characterized by stereotypical hand movements, periods of hypo-hyperventilation, apnea while awake, episodes of screaming
Can get long QT
80% get seizures
Rett Syndrome
Developmental Screening Tools:
Which is used to screen for autism?
Which is best?
When should you evelauate a stutter?
- 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
- Acquired epileptic aphasia
- Sudden deterioration of language at age 3-7 years
- Seizures
Landau-Kleffner Syndrome
- treatment is IVIG, steroids, AEDs
Which sleep phase is characterized by increased HR and RR, loss of muscle activity, last 1/3 of the night, when you dream
REM Sleep
- night terrors do not occur during REM sleep because kids can move
When is thumb sucking considered abnormal?
After age 5
Normal Development:
Head Circumference:
Weight
Length
- 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
When is a bipolar type 2 patient manic?
Trick Question
Never manic
They are hypomanic +/- depressive episodes
Hypomania alternating with depressive symptoms for greater than 1 year
Cyclothymic Disorder
What are the diagnostic criteria for Major Depressive Disorder?
2 consecutive weeks of depressed mood and/or SIGECAPS
What is the diagnostic criteria for dysthymia?
> 1 year, chronic depressed mood without major depressive episodes
What is the diagnostic criteria for oppositional defiant disorder?
greater than 6 months defiance to authority not caused by a mood disorder
What is the diagnostic criteria for tourettes?
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
What are club drugs and what do they do?
Gamma-hydroxybuterate
Rohypnol
Ketamine
Lead to CNS depression
Colorless, tasteless, odorless
Symptoms of SSRI toxicity
fever, sweating, vomiting, and most specific finding is myoclonus
What is a symptom of abrupt withdrawal from benzos?
Prolonged seizures which can lead to death
When should you introduce a cup
6-9 months of age
Wean from the bottle between 12-15 months
Breastfeeding is contraindicated if mother is taking what classes of medications?
Amphetamines, Chemo, Ergotamines, Statins
In infants, which type of sleep occurs at the onset of sleep?
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
Expectations for speech in an 18 month old.
> 10-50 words
Identify 4 body parts
Follow simple instructions
Speaking in 2 word sentences should be present between 18 and 24 months
10 year old presents with: BMI > 97%ile 160 TG HDL 20 SBP > 90%ile Fasting Glucose of 110 Waist Circumference > 90%ile
What is the diagnosis?
Metabolic Syndrome
- need 3 of the 6 listed criteria
How soon does an infant regain birth weight?
10-14 days
Infants gained 20-30g/day, then 15-20g/day for the rest of the year
When does birth weight double? Triple? Quadruple?
4 months of age
12 months of age
24 months of age
Average weight after that is 5 pounds per year until adolescence
How much does birth length increase by 1 year of age?
When does it double? Triple?
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
When is the fastest rate of head growth?
Between 0 and 2 months of age
- by 12 months the brain has completed half its postnatal growth and is 75% of adult size
What parameters define FTT?
- 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
What are the first teeth to emerge?
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
Administration of a pertussis=containing vaccine is contraindicated in a 15 month old boy with developmental delay of unknown etiology associated with a poorly controlled seizure disorder. He has never received a pertussis -tetanus-diphtheria-containing vaccine.
What are the recommendations for immunization against tetanus and diphtheria in this patient?
2 doses of DT - 2 months apart
3rd dose in 6-12 month
4th dose at 4-6 years of age
How do you treat lead poisoning?
What is the most accurate way to test?
What are the symptoms?
What are signs of chronic lead poisoning?
What are microscopic findings?
- 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)
CBC findings of Iron Deficiency Anemia
- 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
When should you screen for scoliosis and what are diagnostic/treatment parameters?
- 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
What should you do with HTN in > 12 years of age if SBP > 120
- 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
When can you start using DEET?
2 months and up
- no need to go past 30%
What are predictors of persistence of asthma into adolescence?
Obesity and Vitamin D deficiency
What are the age parameters for breath holding spells and what are associated nutritional deficiencies?
- involuntary reflex
- Associated with iron deficiency
- Can happen as young as 6 months to 4 years with most occurring before 18 months of age
By when should you treat an undescended testicle?
6-12 months
15% of tumors that occur in men with a history of cryptochordism occur in the contra lateral testes
Diagnosis for torticollis
- 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
When do you reach adult vision?
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
Which/When do you expect teeth to come in?
How many teeth should you expect at what age?
What do you consider if there is delayed eruption of teeth?
- 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)
What should you do if a tooth falls out?
- An avulsed tooth is viable for 2 hours. Rinse with water and store in milk. Do not reimplant avulsed primary teeth
When should you start Fluoride and what are the signs of fluorosis?
- 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
What are the criteria for diagnosing metabolic syndrome?
> 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
At what age do you see separation anxiety?
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
When should you screen for cervical cancer and HIV?
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
What are the diagnostic parameters for HTN?
- 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)
What should you do if a child < 4 years of age has been exposed to active TB infection?
- 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)
When should you collect a newborn screen?
- 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
When can you transition to a standard seat belt?
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
What is the congenital heart disease screening test and when should you do it?
- 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
When does the HPV vaccine require 3 shots?
After 15 years of age
HPV is 2 shots before 15 and 3 shots after; most commonly associated with syncope
In which vaccine is an egg allergy a contraindication?
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
Which vaccines are SubQ?
MMR, Varicella, Polio
Describe Tetanus Prophylaxis
- 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
Pneumococcal Vaccine:
- When is the regular schedule of dosing?
- Which kids should receive additional doses?
- How should you give vaccine in patients with high risk of invasive pneumococcal disease?
- 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
Meningitis Vaccine
- When is the regular schedule of dosing?
- When do you give Menveo?
- When do you give Menactra?
- Who should receive additional dosing?
- 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
DTAP
- When is the regular schedule of dosing?
- What are the age parameters of this vaccine?
- What are contraindications?
- 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
Tdap, Td
- When is the regular schedule of dosing?
- What are the age parameters of this vaccine?
- When should you give Tdap vs Td?
- How do you immunize pregnant women?
- 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
Varicella Vaccine
- What is the regular schedule for dosing?
- What should you do for post-exposure ppx?
- When do you give VariZIG?
- How should the vaccine be stored?
- At what interval should you give the catch up vaccine?
- How long after steroids and IVIG can you administer the vaccine?
- How high should the CD4 count be in order to vaccinate?
- In what age group should you not give the vaccine?
- 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
MMR Vaccine:
- What is the regular dosing schedule?
- What complication is at increased risk when giving the MMRV vs MMR alone?
- How should you give post-exposure ppx?
- When can you give vaccine in relation to PPD? Other live vaccines?
- How long after steroids and IVIG can you administer the vaccine?
- How high should the CD4 count be in order to vaccinate?
- 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
Hep B Vaccine:
- What is the regular schedule for dosing?
- What should you do if a mother has a positive Hep B Surface Ag?
- Vaccination based on weights < 2kg and > 2 kg?
- What do you do if the mother’s status is unknown?
- When should you recheck titers?
- 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
Hep A Vaccine:
- What is the regular schedule for dosing?
- What is the interval between dosing?
- Ppx for travelers?
- What should you do for patients less then 1 year of age?
- What should you do if they are 40 years or older?
- 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
Polio Vaccine:
- What is the regular schedule for dosing?
- How should you dose in the setting of travel?
- Should not be given after which medications?
- 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
Rota Vaccine
- What is the regular schedule for dosing?
- After what age should you not give the vaccine?
- When is Rotarix contraindicated?
- When can you give to preterm infants?
- 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
Hib Vaccine
- What is the regular schedule for dosing?
- Dont give after what age
- How many doses can be given after 15 months?
- How to treat those at risk of invasive disease?
- 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
Influenza Vaccine
- What is the regular schedule for dosing?
- What are the contraindications?
- After what age is only one dose required?
- 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
A newborn presents with cyanosis of the fingers and hands, but not of the toes or feet. What cardiac condition does this indicate?
How do you treat it?
What are the 02 sats in relation to the PDA
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
In children, which is more likely to be abnormal– S3 or S4?
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
A 7 year old boy presents for a camp physical. The following is found: systolic ejection murmur with a vibratory character. The murmur is best heard in lower precordium and NOT in the back. The murmur decreases with positional changes that decreases venous return. What is the most likely murmur?
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
What is the most common benign murmur of infancy?
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
7 year old presents with a continuous murmur that is low pitched, absent when supine and when the patient turns his head, valsalvas, or when the jugular vein is compressed. What is the murmur?
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
An infant fails the newborn hearing screen and on ECG has a prolonged QT interval. What is the diagnosis?
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)
Hyperkalemia causes what ECG changes?
- 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
An ECG is done on a 2 week old boy because of possible enlarged heard. The ECG shows tall R wave and negative T wave in lead V6. What do these findings infer?
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
On ECG, you see progressive prolongation of the PR interval until there is a dropped QRS (ventricular beat). What is the conduction disturbance called?
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
On ECG, you note normal PR intervals, but following every other P wave, there is a dropped QRS. What is this conduction disturbance called?
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)
A 4 month old infant presents with tachycardia and respiratory distress. An ECG is done and shows a narrow complex rhythm with a rate of 240 bpm. What maneuver can be done to slow the ventricular rate and potentially return the child to normal sinus rhythm.
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
A 15 year old boy presents with a history of palpitations. He is otherwise asymptomatic and his physical examination is normal. An ECG is done, which is normal, as well as a 3 minute rhythm strip. During the rhythm strip he has multiple, simple premature ventricular contractions (PVCs). What s the best treatment for this boy?
Reassurance
- Avoid caffeine
Most common congenital heart lesion?
VSD
- left to right shunt defect where blood from systemic circulation shunts to the pulmonary ventricle by an abnormal connection
Lithium use in pregnancy is associated with what cardiac abnormality?
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
2 month old girl presents with continuous, machine like murmur that increases in intensity in late systole. Murmur is best heard best below the left clavicle over the main pulmonary artery. What is the most likely diagnosis?
PDA
- usually closes within 10-15 hours of birth
- Indomethacin CLOSES the PDA (bounding peripheral pulses)
- Prostaglandin OPENS the PDA
4 week old infant presents with breathing fast, a holosystolic murmur that is high-pitched, heard best at the lower-left sternal border, a palpable thrill. What is the most likely diagnosis?
VSD
- As the pulmonary resistance drops over the 1st month of life, more blood flows across the VSD leading to heart failure
12 year old is referred by a school nurse for murmur evaluation. S1 is normal. S2 is widely split and does not vary with respiration. Murmur is SEM that is crescendo-decrescendo and heard best at the upper left sternal border. CXR and ECG both show RA and RV enlargement and right axis deviation. What is the diagnosis?
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
Most common heart defect in Trisomy 21
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
A 14 year old boy, newly adopted from Romania, presents for initial evaluation due to fatigue and exercise intolerance. You note a high-pitched, early diastolic decrescendo murmur that begins with the aortic component of the 2nd heart sound. There is a low-pitched, middiastolic murmur at the apex. What is the most likely heart defect?
Aortic Regurgitation
- high pitched, early diastolic decrescendo murmur
- Rheumatic fever is a major cause
A 13 year old boy presents with mid-late systolic murmur at the apex. Murmur is preceded by one of more “clicks.” If the patient goes from a supine to a standing position, the murmur gets louder. When he squats, the murmur becomes softer. What is the most likely diagnosis?
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
An asymptomatic 10 year old presents with systolic ejection click, which varies with respiration, along the left sternal border. After the click, a crescendo-decrescendo murmur, best heard at the left upper sternal border. The murmur radiates to below the left clavicle and to the back. ECG shows peaked P waves in lead II, right axis deviation, and right ventricular hypertrophy. What is the most likely diagnosis?
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
Alagille and Noonan syndrome are both associated with what cardiac abnormality?
Pulmonary Stenosis
4 day old newborn presents in apparent septic shock. On exam you find a SEM at RUSB, early ejection click, pulses are diminished, CXR shows marked cardiomegaly with severe pulmonary edema. What is the most likely cardiac abnormality?
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
10 year old boy presents with crescendo-decrescendo harsh SEM, best heard at the RUSB, which radiates into the suprasternal notch and neck, systolic ejection click at the apex, suprasternal notch thrill.
What is the diagnosis?
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
17 yo falls out while playing basketball. On exam, he has a grade 4/6 crescendo-decrescendo SEM at RUSB, no palpable thrill, murmur gets louder with valvsalva or standing up from a supine position. EKG shows left ventricular hypertrophy.
What is the diagnosis?
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
What cardiac condition is associated with Williams Syndrome?
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
Which syndrome is associated with true interruption of the aortic arch?
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
7 year old presents with HTN, radial pulses that are strong compared to the femoral pulses, rib notching on CXR.
What is the diagnosis?
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
Name the 4 abnormalities that make up Tetralogy of Fallot
- Right Ventricular Outflow Obstruction
- VSD
- RVH (larger ventricular forces in V1 and V2)
- Overriding Aorta
Pulmonic stenosis
3 year old child adopted from rural china presents with:
- cyanosis on occasion
- squats after exertion and cyanosis improves
- SEM best heard at LUSB
- CXR with boot shaped heart
- EKG shows right axis deviation and RVH
What is the diagnosis?
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)
What is the most common cardiac cause of cyanosis presenting in the first few days of life? How do you treat it?
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
What is the classic CXR finding in an infant with complete dextr-transposition of the great arteries?
Egg-shaped or Oval-shaped heart
- with narrow mediastinum (due to aorta being in front of main pulmonary artery)
- small thymus
8 hour old infant presents with cyanosis, diminished pulmonary blood flow on CXR, and left superior axis deviation and LVH with small right ventricular forces on EKG. What is the diagnosis?
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
WHat cardiac condition has the classic CXR that shows a “snowman” or “figure 8” silhouette?
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
What is the most common aortic arch abnormality?
Abberant Right Subclavian Artery
- arising from the descending aorta
- DiGeorge Syndrome
What is the most common symptomatic aortic arch abnormality?
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
A high school basketball player passes out and dies while playing a game. HCM is ruled out as a cause. What is the next most likely cause of sudden death in an exercising adolescent?
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
What diuretic causes hyperkalemia and more rarely gynecomastia?
Spironolactone
- K sparing
A child presents with mitral valve prolapse with a harsh, loud murmur. What antibiotic prophylaxis does he require before his dental cleaning?
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
6 year old girl presents with chorea, fever, elevated CRP, and arthralgia. What is the diagnosis?
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
Drugs that cause miosis
COPS
- C: cholinergics, clonidine
- O: opiates, organophosphates
- P: PCP, pilocarpine
- S: sedatives
What drugs cause Mydriasis?
AAS
- Anticholinergics (atropine)
- Antihistamines
- Sympathomimetics (amphetamine, cocaine, LSD)
Ingestion of what type of agent causes: decreased sweating flushing mydriasis agitation seizures hyperthermia
Anticholinergics
- benadryl, amitriptyline, atropine
- dry as a bone, red as a beet, hot as a hare, blind as a bat, mad as a hatter
Nausea, emesis, respiratory alkalosis, anion gap metabolic acidosis, tinnitus, fever, agitation, confusion
Ingestion of what agent results in these findings?
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
What drug if ingested results in:
- tachycardia
- HTN or hypoTN
- widened QRS
- prolonged QTc
- drowsiness
- seizures
Tricyclic antidepressants
- inhibit sodium channels
- give bicarb to alkalinize the serum pH
Ingesting what substance produces visual complaints, abdominal pain, and a high anion gap metabolic acidosis?
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
A toddler presents after ingesting lamp oil. Normal PE exam and 02 sat. What should you do?
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
Ingestion of what substance produces diarrhea, urination, miosis, bronchorrhea/spasm, emesis, lacrimation, salivation?
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
Child presents with raccoon eyes, battle sign, hemotympanum, and CSF otorrhea/rhinorrhea. What is the injury?
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
6 month old presents with a large, unexplained swelling over the parietal area. What should you do?
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
What is Cushing’s triad?
Hypertension
Bradycardia
Irregular Respirations
- possibility of increased intracranial pressure
A 6 year old is seen after an ankle injury. He is tender over the distal fibula. Xrays do not show a fracture. What do you suspect?
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
A child presents pulseless and is found to have VTach on EKG. CPR has been started. What is the next step in management?
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
Describe growth plate fractures
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
An infant presents with pancytopenia, hypoplastic thumb and radius, hyperpigmentation, and abnormal facial features. What is the diagnosis?
Fanconi Anemia
- AR
What organ produces erythropoeitin in the fetus?
Liver
- after birth the kidneys take over
What is the predominant hemoglobin at birth?
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
A 4 year old girl presents with low iron, high TIBC, low transferrin saturation, and low ferritin. What is the diagnosis?
Iron Def Anemia
- RDW is increased (RDW is normal in thalassemia)
A 9 month old presents with pallor, irritability, growth retardation, HSM, jaundice, and Hgb electrophoresis shows “F only.” What is the diagnosis?
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
What congenital hereditary anemia has these characteristics?
Structural or functional abnormality of cytoskeletal proteins: spectrin, ankyrin, and less commonly band 3 or protein 4.2.
Complications can include cholelithiasis due to bilirubin stones and asplastic crisis from parvovirus
A positive fragility test confirms the diagnosis
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
What disease has these characteristics?
Caused by the point mutation in the 6th codon of the beta-globin gene, which is located on the short arm of chromosome 11
Adenine is replaced by thymidne, which results in valine being encoded instead of glutamic acid
Sickle Cell Disease
- dactylitis is one of the first symptoms in children
- MCC of distal blistering dactylics is GAS then staph
What is the Japanese term for the collateral formation of vessels that is often seen in children with sickle cell disease and stroke?
Moyamoya
- collateral formation of vessels due to vascular occlusion
Which type of hemoglobin occurs because of the substitution of a lysine for the glutamic acid residue in the 6th position of the beta-globin chain?
HbC
- have a mild hemolytic anemia and splenomegaly
- no vaso-occlusive problems
- heterozygotes have no symptoms
- target cells
A 4 year old girl presents with fever, apthous ulcers, cervical LAD, and occasional rectal and/or vaginal ulcers. These symptoms occur about every 21 days. What is the diagnosis?
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
What syndrome has these characteristics?
AR inherited white cell disorder. Presentation at a young age with severe bacterial infection. ANC < 200.
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
What syndrome has these findings? AR Neutropenia Exocrine pancreatic insufficiency Diarrhea Short Stature Metaphyseal Dysostoses Recurrent Infections FTT
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
A 4 year old girl presents with the following sequence of events:
- viral infection two weeks ago
- now she has acute onset of bloody nose and petechial rash
- normal Hgb
- Plt Ct is 4K
- Peripheral smear is normal except for lack of platelets, and the ones that are seen are large.
What is the diagnosis?
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
What syndrome presents with these findings?
- AR
- presents in the neonatal period with bleeding
- severe thrombocytopenia
- rest of the blood lines are normal
- no megakaryocytes in the bone marrow
- newborn has no radii but has normal thumbs
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
What syndrome has these characteristics?
- severe thrombocytopenia
- small platelets
- eczema
- immunodeficiency
- X-linked
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
What syndrome represents these findings?
- AR
- macrothrombocytopenia with giant platelets
- the platelets do not aggregate to ristocetin, but do not aggregate in response to ADP, epinephrine, and collagen
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
Name the syndrome with these characteristics:
- AR
- poor platelet aggregation in response to collagen, epinephrine, and ADP
- normal platelet counts
- mucosal bleeding in infancy
Glanzmann Thrombasthenia
- abnormality in the genes encoding the allb-beta3 integrin fibrinogen receptor
- the platelets cant bind fibrinogen and agggregate
- NORMAL platelet counts
Name the diagnosis:
A 9 year old presents with a history of short stature, no thumbs, abnormal radii, small head, cafe au lait spots, renal anomalies, and dark pigmentation.
Today he presents with pallor, fatigue, bruising, and petechiae.
Pancytopenic
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
A 7 month old presents with thumb anomalies, short stature, web-neck, congenital heart disease, intellectual disability.
He now presents with macrocytic anemia and reticulocytopenia- pure red cell anemia.
What is the diagnosis?
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
A patient presents with hemorrhage after tonsillectomy. PTT is prolonged. PT and platelet count is normal. You mix the patient’s plasma 1:1 with normal plasma and the PTT of the mixed sample is normal.
What lab test should you perform next?
Factor Assays for Factors 8, 9, 11
- Factor 12 def does not present with bleeding but does have prolonged PTT
A patient has pre-op testing to tonsillectomy. PTT is prolonged. PT and platelet count are normal. You perform a mixing study, mixing the patient’s plasma 1:1 with normal plasma. The PTT of the mixed plasma is normal. Based on these lab results, is the patient at risk for bleeding?
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
What is the factor deficiency in hemophilia A and B?
Factor 8 in A
- X-linked, always male, and positive family history on mom’s side
Factor 9 in B
- X-linked recessive
14 year old girl presents with heavy menstrual flow with her first menses. Labs show: Normal PT, PTT Factor 8 is 38% vWF is 32% Ristocetin cofactor activity is 30%
What is the diagnosis?
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
What factor deficiency has a normal Pt and a very prolonged PTT, but the patient does not have clinical bleeding and can have a major surgery without bleeding?
Factor 12 Deficiency
- totally asymptomatic
What factor deficiency presents in an early age with umbilical cord bleeding and normal PT, PTT, and platelet count?
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
How much doesn an RBC transfusion of 10 ml/kg raise hemoglobin?
2.5-3 g/dL
What is the most common childhood malignancy?
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
A child , age 2-5 years typically, presents with an orbital chloroma and HSM. What is the most likely diagnosis?
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
What is the philadelphia chromosome?
t(9;22)
- CML
- BCR-ABL gene
- abnormal protein tyrosine kinase
Which type of leukemia presents with these findings?
- presents at less than 2 years of age
- markedly enlarged spleen
- modest leukocytosis
- thrombocytopenia
- elevated fetal hgb
- xanthome
- cafe au lait spots
- eczema
- Monosomy 7
Juvenile Myelomonocytic Leukemia
- no blast crisis
- 5 year survival without BMT is < 10%
- NF1 is increased risk
What is the classic histiologic feature of Hodgkin Lymphoma seen on lymph node biopsy?
Reed-Sterberg Cell
- large cell with multiple nuclei
- looks like owl eyes
- most are B-cell lineage
17 year old has the following:
- asymptomatic firm, nontender, cervical LN
- no other symptoms
- no cat exposure and 1 week of Keflex has not changed anything
What do you recommend at this point?
Excisional Biopsy of the Node
- this kid is at higher risk of Hodgkin Lymphoma
What is a long-term side effect of radiation therapy on the heart?
Early-Onset Coronary Artery Disease
- also causes hypothyroid, pulmonary fibrosis, and an increased risk of breast cancer
What is the most common lymphoma in children?
Non-Hodgkin Lymphoma
What is the most likely diagnosis for a child who presents with nausea, vomiting, fever, and an abdominal mass and pain in the ileocecal junction area. CT scan confirms that the mass is at the ileocecal junction.
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
An adolescent boy presents with anterior mediastinal mass, nontender cervical and supraclavicular nodes, and HSM. You suspect Non-Hodgkin Lymphoma. What cell type is this likely originating from?
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
Most common cause of line infection/ bacteremia as well as post-op bacteremia from heart valves, joints, pacemakers, and VP shunts
Staph epi
- usually methicillin resistant
Best empiric antibiotic therapy for meningitis in any child > 3 months of age?
IV Ceftraixone or Cefotaxime plus IV Vanc (because of increased S pneumoniae resistance)
- Worry about hearing loss in kids who survive meningitis
16 month old presents with thick purulent nasal dischage, low grade fever, decreased feeding, and abdominal pain. Diagnosis?
Streptococcosis
- S pyogenes (only member of group A beta-hemolytic strep)
- Toddlers with GABHS usually present with these symptoms rather than pharyngitis
Child with cochlear implant is at increased risk of CNS infection with what organism?
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
College student presents with vomiting. Felt ill one hour after eating leftover fried rice that stayed on the counter overnight
Bacillus cereus toxin food poisoning
- can cause two types of gastroenteritis:
- a short incubation type (1-6 hours) emetic type due to preformed heat-stable toxin
- a longer incubation (8-16 hours) diarrheal type due to heat-labile enterotoxin production in vivo in the GI tract
Supportive care
10 year old with no immunization history presents with sore throat, hoarseness, conjunctivitis, gray-white pharyngeal membrane, and temp of 100
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
3 year old girl presents with painful rectal area and a bright red, sharply demarcatted rash that is painful and itchy
Perianal Group A Streptococcal Cellulitis
- most commonly occurs in children between age 6 months and 10 years
A child with fever and purpura is examined for an hour. It is later determined that the child has meningococcemia. Should the PCP examining the child receive rifampin or cipro ppx?
No!
Healthcare workers should only take prophylaxis if they have close, intimate contact with oral secretions (intubation or mouth to mouth resuscitation)
4 day old infant presents with bloody green discharge from the eyes. Born at home.
Gonococcal Ophthalmia
- presents 2-7 days after delivery
- gram stain the discharge and culture for n. gonorrhoeae
13 year old girl steps on a dirty rusty nail. She has had 6 previous tetanus immunizations with her last DTaP immunizations 6 years ago. What do you recommend?
- 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
Amphotericin B causes renal losses of which 2 electrolytes
Potassium and Magnesium
- other side effects include fever, renal failure, phlebitis, and acidosis
What is the main side effect of Zidovudine?
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
10 year old boy presents with severe sore throat, fever to 102, tender cervical LAD, exudative tonsils, rhinorrhea. What procedure should you perform: rapid strep, strep culture, or both?
Neither!
Do not check for strep if there are associated URI symptoms as this is likely viral in etiology
How does early onset group B strep present in the newborn?
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
How does late onset group B strep infection present?
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)
What organism is associated with the following findings?
- occurs in < 1 months of age
- maternal amnionitis
- brown staining of amniotic fluid
- preterm birth
- pnuemonia and septicemia
- erythematous rash with papules known as “granulomatosis infantisepticum”
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
A child presents with mild antibiotic associated colitis caused by cdiff. She is febrile, with normal WBC and renal function. She is successfully treated with flagyl but comes back 2 weeks later with a recurrence. What should you treat her with?
Flagyl
- treat the first recurrence with flagyl if the disease remains mild to moderate
- after this use oral vancomycin
15 year old boy who lives and works on a sheep farm presents with a painless papule that vesiculates and forms a painless ulcer, then a painless black eschar with nonpitting, painless induration and swelling. What is the likely diagnosis?
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
15 year old girl presents with history of mild URI symptoms, persistent cough for more than 2 weeks that causes her to cough for long periods of time, no fever, and normal WBC. What is the diagnosis?
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
2 year old day care attendee presents with fever, vomiting, bloody diarrhea, new tonic clonic seizure, WBC is elevated with significant bandemia, rectal prolapse
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
6 year old boy develops diarrhea followed by renal insufficiency, thrombocytopenia, and hemolytic anemia
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
17 year old with
Pneumonia
Diarrhea
CNS Symptoms (headache, delirium, and confusion)
Legionella pneumophila
- associated with contaminated water towers or air-conditioning water units
- infections are rarely seen in children
14 year old presents with diarrhea. He has a pet iguana in the house. What is the cause of the diarrhea?
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
A neonate with meningitis grows Citrobacter in her blood culture. What is the next test to order?
CT or MRI of the Head
- you should be very concerned about brain abscesses (occur in 755 of cases)
10 year old steps on a mail that foes through her tennis shoe. What organism is most likely responsible if a cellulitis or other infection develops?
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)
A patient from North Carolina presents with fever, headache, arthralgias, maculopapular rash on the extremities that has become more petechial. Na is 128 and platelet count is 110. What is the diagnosis?
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
An unimmunized child presents with buccal cellulitis (full thickness palpable on both sides of the cheek, purple in color) due to Hflu. What do you expect to find systemically?
Bacteremia
- admit for IV antibiotics
What is the most common organism to cause infection in cat bites?
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
How to treat cat scratch and what are the symptoms?
- 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
A child has a persistent tooth abscess that has been ignored for weeks. Now presents with drainage on the outside skin lateral to the infection of his molar. Stains of the drainage show yellow “sulfur” granules. What is the diagnosis?
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
15 year old who lives on a farm loves to eat chitterlings presents with appendicitis-like syndrome. What organism is responsible if this is not appendicitis?
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
17 year old presents with low grade fever, cough, wheeze, negative cold agglutinins
What is the most likely etiology of patient’s pneumonia?
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
2 month old born vaginally presents with no fever, staccato cough, CXR evidence of PNA. What is the most likely cause of the infant’s pneumonia?
Chlamydia trachomatis
- seen in the first 4 months of life
5 year old boy from rural arkansas presents with fever and swollen lymph node in his right inguinal area. What is the diagnosis?
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
13 year old girl who lives on a turkey farm presents with fever to 105, myalgias, rigors, pneumonia, and splenomegaly. What is the etiology?
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
A 14 year old boy from Hawaii presents with:
fever
myalgias
headache
jaundice
history of swimming in fresh-water lagoons
Labs: bili is disproportionately higher than LFTs which are milkdly elevated
Cr of 1.9
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
A child from upstate NY presents with erythema migrans. What serology should you order?
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!
13 year old from Missouri presents with interstitial pneumonia, palate ulcers, splenomegaly. What is the diagnosis?
Histoplasmosis
- endemic to Mississippi and Ohio River valleys
- associated with brid and bat droppings
- Palate ulcers!
What diagnosis should you consider with an isolated Bell’s palsy?
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
Newborn with microcephaly, hydrocephalus, hepatosplenomegaly, maculopapular rash, retinochoroiditis, cerebral calcifications. What is the diagnosis?
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
Diagnosis for TB
- 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
Multiple patients present with diarrhea. It appears as though there is a community-wide outbreak. It is thought that the drinking water might be contaminated with acid-fast organisms. What is the organism?
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
An 8 day old infant presents with macules on the scalp that have become vesicular on a red base in the last few hours. They appear to be where the fetal scalp monitors were. Mother does not have history of infection or MRSA colonization
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
When is chickenpox contagious?
1-2 days before rash onset to when all of the lesions are crusted over
Caucasian adolescent male presents with hyperpigmented scaly lesions on his chest and back that worsen when he plays in the sun. What is the diagnosis?
Tinea Versicolor
- Due to Malassezia furfur
- skin scraping will show spaghetti and meatballs organisms
- treat with topical selenium sulfide or oral itraconazole
A mother develops chickenpox in the perinatal period. What time frame determines which newborns should be given varicella immunoglobulin?
- 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
A 6 year old girl who has been attending summer camp presents with fever, pharyngitis, conjunctivitis, rhinitis, cervical adenitis. What is the etiology for her signs and symptoms?
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
A newborn of a mother who recently immigrated from Albania presents at birth with:
- petechiae and purpura on the face, trunk, and extremities
- hepatosplenomegaly
- hemolytic anemia
- PDA without pulmonary stenosis
- cataracts with micropthalmia
- radiolucencies in the metaphyseal long bones
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
4 year old boy presents with fever, vesicles on his buccal mucosa, vesicles on his tongue, and a red maculopapular rash on his hands and feet
Coxsackie
Newborn presents with IUGR, HSM, jaundice, low plts, petechiae/purpura, micorcephaly, chorioretinitis, periventricular intracerebral calcifications, and cerebral atrophy
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
A family presents with a history of staying in a rural cabin in southern Colorado. They found a dead bat in the bedroom that they had been sleeping in. What should happen next?
Give Rabies Immunoglobulin and Vaccine
- give to everyone in the room even if there was no bite (except for in Hawaii)
2 year old boy presents with enlarged, matted anterior cervical LN. When combined, they measure 3x6 cm. Nodes are painless. TB skin test diameter is 8 mm. Nodes are persistent for 2 months despite antimicrobials include cephalexin and augmentin. What is the best management?
Complete excision of nodes
- lymphadenitis likely due to mycobacteria
An adolescent who recently immigrated from Africa presents with low grade fever, postauricular LAD, HA, sore throat, macular rash on the face that spreads down to the neck and trunk. What is the diagnosis?
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
A woman is infected with parvovirus B19 while pregnant. What serious complication are you worried about?
How does it manifest in children?
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
17 year old works in a pet store and spends the day clearning fish tanks of debris. He has had skin ulcerations on his right arm for several weeks that do not respond to Keflex. Additionally he was treated with doxy for MRSA without improvement. What is the etiology of the skin ulcerations?
Mycobacterium marinum
- “fish tank bacillus”
- causes a nonhealing skin ulceration along lymphatic channels
- treat with ethambutol + rifampin OR clarithromycin + rifampin
10 year old has sore throat, HA, fever, cervical LAD, and splenomegaly. What is the best way to test for your suspected diagnosis?
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)
College freshman presents with cough, coryza, conjunctivitis, fever, splenomegaly, macular rash that began on the hairline and now has spread to the trunk. What is the diagnosis?
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
5 year old presents with abrupt onset of high fever, sore throat, dysphagia, and tiny vesicles on the anterior pillars of the tonsils, uvula, and pharynx (no vesicles are noted on the front part of the mouth or lips). What is the diagnosis?
Herpangia from coxsackie
- herpes simplex lesions are more commonly in the front part of the mouth and extend to the lips
2 year old from Chad presents with fever and paralysis that began in the proximal muscles of the thigh and progressed to more distal muscle groups. What is the diagnosis?
Polio
- In Guillan Barre, paralysis begins distally and spreads proximally
17 year old homeless boy with history of IV drug use and multiple sexual partners has fever, LAD, pharyngitis, myalgias, mucocutaneous ulcers of the mouth and genitals, erythematous maculopapular rash on the face, trunk, and extremities (including palms and soles). Negative monospot and rapid strep. What is the diagnosis?
Acute Retroviral HIV Syndrome
- usually 2-4 weeks after initial infection and lasts 1-2 weeks
15 year old M with history of IV drug abuse presents with positive blood culture for strep viridans, fever, and positive rheumatoid factor. What is the diagnosis?
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
6 year old F with MRSA osteomyelitis is given first dose of antibiotic after which he develops tachycardia, flushing, and generalized pruritis. What medication was he given?
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.
What antibiotic is definitely contraindicated for the breastfeeding mother?
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
When should you treat salmonella gastroenteritis?
Only given antibiotics for nontyphoidal salmonella diarrhea to children < 3 months of age and older children who are immunocompromised
A 6 month old with beta-thalessemia has fever and the blood culture is growing a gram negative rod. What is the organism?
Yersinia entercolitica
- bacteremia more common in children < 1 year of age and in older children with iron overload, especially those who are transfusion dependent
12 year old boy who lives in arizona loves to hunt prarie dogs and skins them with his old hunting knife. He presents with a 3 day history of fever, chills, headache, and a painful, swollen right inguinal LN. What organism do you suspect?
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
Who is at greater risk of developing neuroinvasive disease from West Nile - a healthy 10 year old or her 65 year old grandmother?
Grandmother
- Majority of infections of West Nile are asymptomatic
- 20% develop a flu like illness
- risk of neuroinvasive disease increases with age
A 13 year old girl has a staple injury (clean, minor wound). She has had 7 immunizations for tetanus and her last immunization was 7 years ago. What do you recommend as far as immunization for tetanus?
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
A 17-year-old boy was visiting his grandparents in Indiana over the summer. Two months after cleaning out his grandfathers chicken coop, he presents with mild respiratory symptoms, low-grade fever, chest x-ray which shows a few focal infiltrates with hilar adenopathy. What is the diagnosis?
Histoplasmosis
- Ohio and Mississippi river valley
- Associated with the droppings of chickens and bats
Two weeks ago, a 17-year-old Filipino girl was visiting her grandfather in Bakersfield, California and now presents with fever, cough, several pounds weight loss, chest pain, fatigue, erythema nodosum. What is the diagnosis?
Coccidiomycosis
- Valley fever
- symptoms present one to three weeks later
17-year-old boy from Northwest Arkansas who hunts frequently presents with a one-month history of low grade fever, cough with occasional hemoptysis, chest pain, 10 pound weight loss, several varicose solutions with the regular borders in micro abscess formation at the periphery on the left arm. CXR shows upper lobe infiltrate with the cavitary lesion. What is the diagnosis?
Blastomycosis
- Chronic pneumonia with dissemination to the skin
– most occur in Arkansas, Mississippi, Illinois, Wisconsin, and the states bordering
An HIV infected 2 year old boy with recurrent PNA and FTT was brought to the ER for severe resp distress, hypoxemia, fever, lymphopenia, CXR with diffuse infiltrates, and BAL positive for silver-staining organism. What is the diagnosis?
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
You have diagnosed a patient with active TB. What comorbid conditions should you consider before prescribing isoniazid?
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
2 children, age 9 months and 3 years, have both not received MMR. They present 24 hours after a community outbreak of measles. Is post-exposure ppx with MMR indicated?
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)
What is the cause for SVT in infants? In older children?
What does it look like on EKG?
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
Describe vascular rings and pulmonary slings as well as what you would see on a barium study
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
What is a double aortic arch?
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
How do you treat a narrow complex regular tachycardia with poor perfusion?
How do you treat if perfusion is intact and what are side effects of the medication of choice?
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
Describe VTach and its causes and treatment
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
What are the side effects of ACE inhibitors?
A dry nonproductive cough can occur weeks/months after ACEI use, more in women
Can also get angioedema, hyperkalemia, AKI
Describe Torsades de Pointes
- 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
What electrolyte abnormality do you see with rhabdo and how do you treat it?
Rhabdo —> AKI —> HyperK —> bradycardia —> treat with CALCIUM GLUC
Describe hyper/hypo K on EKG
- 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)
Aortic Stenosis vs HCM
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
Pulmonary Atresia
Decreased vascularity and cyanosis
OPEN THE PDA!!!!!!
Describe the sound of tricuspid regurgitation and what it looks like on EKG?
- 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
What is Eisenmenger’s?
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
How do you treat PEA?
Do CPR first and then give epinephrine every 3-5 minutes
How do you treat pulmonary stenosis?
do a balloon valvuloplasty
if severe hypoxia, give prostoglandin to open the PDA
When should you suspect Total Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA) in an infant?
if an infant shows signs of CHF and deep Q waves in the inferior leads (II, III, AVF) —> prompt surgical repair!!!
What does a bicuspid aortic valve sound like and what are the complications associated with it?
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
When should you avoid calcium channel blockers?
Less than age 1 because of peripheral edema
When should you check lipid panels on children? Children with risk factors?
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
How do VSDs present and what do they sound like?
How should you feed them?
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
What do ASDs sound like, how do they present, and what EKG findings are associated with them?
Why is it important to close ASDs?
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
When does truncus arteriosus present?
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
What are parameters for Stage I/II HTN?
What are parameters for a BP cuff?
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
What should you rule out when a patient presents with crushing chest pain?
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
What does HOCM look like on EKG?
wide QRS and T wave inversions (V4-V6)
autosomal dominant
get double pulse in carotids
How do you treat atrial flutter?
Atrial flutter tx is amiodarone, digoxin, or cardioversion
What medication should you avoid in WPW?
Digoxin because it can accelerate an accessory pathway
How do you treat xanthomas that are resistant to statins?
Plasmapharesis
A patient presents with hyperlipidemia is when your cholesterol is > 200 and your LDL is > 130. What are the next steps?
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
When should you worry about post-op pericarditis?
What is a common cause of viral pericarditis?
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
What are the 5 T’s of Cyanotic Congenital Heart DIsease and what direction is the shunt?
R —> L shunt
Truncus Arteriosus Transposition Tetrology of Fallot Tricuspid Atresia TAPVR
What are the findings of digitalis toxicity and how do you treat it?
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
Should you be worried about PVCs in children?
PVC are usually benign in children, especially if they go away with exercise
What medication augments BPs in patients with syncope
Fludricort
What are the major and minor criteria of Acute Rheumatic Fever?
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
When are inveted T waves normal?
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
When is the Rs patter normal? (Tall R with small S)
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
Which pressors are good for patients in shock?
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%
When do you hear S3?
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
Which patients are at risk of coronary aneurysms with Kawasaki Disease?
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
You hear a murmur in a patient: grade 2/6 SEM heard at the left upper sternal border and radiates to the right upper sternal border and into the posterior lung fields and axillae. What is the murmur?
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
What are the clinical findings of rickets?
- 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
What does a subdural hematoma look like?
Subdural hematoma looks like a crescent pattern that crosses suture lines but does not cross midline
Who should not receive charcoal?
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
What should you do with a kerosene ingestion?
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
What are the long term complications of an alkali ingestion?
Alkalai ingestions leads to liquefaction necrosis —> squamous cell carcinoma
How do you calculate parklands formula?
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
What does Serotonin Syndrome look like?
HTN, increased HR, agitation, diaphoresis, myoclonus, tremor, hypertonicity
try benzos first to diffuse agitation, tremors
then can try cyproheptadine
When should you treat after an iron ingestion?
Iron ingestion usually asymptomatic is less than 20 mg/kg so always get an iron level and electrolytes
What does a TCA ingestion look like?
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
What does MDMA ingestion look like?
MDMA —> hyperthermia, excessive diaphoresis, and excess secretion of SIADH —> hyponatremia –> seizures
What does clonidine toxicity look like?
Clonidine toxicity looks like benzos but they respond to pain; treat with atropine and naloxone
What are the signs of a benzo withdrawal?
yawning, restlessness, rhinorrhea, lacrimation, diarrhea, arthralgia, hypertension, tachycardia
abrupt withdrawal can lead to seizures
What are the prognostic indicators for death in a drowning?
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
What are the signs of inhalant use and how do you treat it?
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
What should you be concerned about with CO poisoning that has persistent acidemia?
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)
What are the signs of a black widow bite?
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
What are the signs of a brown recluse bite?
violin-shaped band on dorsum; hemorrhagic vesicle —> necrosis —> eschar; tx: wound care
What are the complications from a supracondylar fracture?
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
Which patients should not receive propofol?
Don’t give propofol to people with soy allergies (etomidate)
When should you not give ketamine?
Dont give ketamine in age < 3 months (relatively contraindicated in age < 1 year)
Which fractures are always abuse?
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
Which STDs are always abuse?
BV is not always abuse but GC/CT definitely is
STIs are found in 8% of girls experiencing sexual abuse
Describe the different types of Salter fractures
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
When does medication metabolism switch to zero-order kinetics?
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
Name the antidote to the toxin:
- pure anticholinergic
- cholinesterase inhibitors
- TCAs
- salicylates
- organophosphates
- iron
- opioids
- clonidine
- ethylene glycol
- ca channel blocker
- beta blockers
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
What are the complications to the following chemotherapy agents?
Cisplatin
Vincristine
MTX
Bleomycin
Etopiside
Cyclophosphamide
Cranial irradiation
- 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
What is considered polycythemia in a newborn?
Polycythemia is a HCT > 65%.
If above 70% —> exchange transfusion
What other etiologies should you consider in an older child who presents with intussusception?
Small bowel lymphoma
CF
HSP
Meckels
What are the criteria for brain death?
When do you perform the test?
What are criteria of apnea test?
What is ancillary testing?
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
Increased HgbA2 and sometimes increased HgbF
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
4 alpha genes on hemoglobin
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
No beta-globulin unit on hemoglobin
Beta-Thal major aka Cooley anemia
HSM, pallor, growth retardation, jaundice
What do you suspect in a patient with delayed separation of the umbilical cord?
Leukocyte Adhesion Deficiency 1
What do you visualize microscopically in G6PD?
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)
What do you see microscopically in ABO incompatibility?
ABO incompatible if mom is O and kid is A or B —> spherocytes
What are patients with TTP at risk of developing?
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
Treatment for Hodgkins Lymphome increases the risk for what in the future?
Increases risk for thyroid cancer, heart failure, and pulmonary fibrosis
How do you treat an episode of splenic sequestration?
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
What is the most common complication of sickle trait?
Sickle trait: HgA > Hgb S
most common complication is renal papillary necrosis
What is the difference between the bone marrow in leukemia and aplastic anemia?
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
Hemangioma + Thrombocytopenia
consumptive coagulopathy inside hemangioma
What is the diagnosis?
Kasabach-Merritt Syndrome
treat with steroids and propranolol
A mixing study adds equal volume of normal plasma and patient plasma
What does it mean if it corrects vs if it doesnt?
if it corrects, then there is a def
if it doesn’t correct, then something is inhibiting the clotting process
What factors should you be checking in liver failure?
In liver failure, factor 8 can be made in the spleen and lung, but check factor 5
Bierbeck granules (look like tennis rackets in the cytoplasm)
What is the diagnosis?
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)
Abnormal PIG-A gene on the X chromosome
paroxysmal nocturnal hemoglobinuria
What are the antibodies found in antiphospholipid syndrome?
prothrombotic, antiphospholipid Ab
nonspecific inhibition of clotting factors —> prolonged PTT
What does a parasitic infection look like on smear?
Parasite Infection on smear is multiple WBCs with bilobed nuclei and red granules (eosinophils)
What is Factor 5 Leiden?
point mutation on factor 5 prevents cleavage by activated protein C —> patient is APC resistant
Protein C levels are not affected
When do you see Howell Jolly bodies?
splenic dysfunction
When is PT long?
When is PTT long?
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
What factors are deficient in Hemophilia C?
Hemophilia C is factor 11/13
post traumatic
13 is umbilical stump bleeding and ICH
What lab findings are associated with DIC?
DIC is increased PT, PTT, D Dimer, decreased fibrinogen; schistocytes
Asymptomatic toddler with ANC < 500
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
When do you worry about heparin induced thrombocytopenia?
5-14 days after exposure
mild decrease in platelets
predisposes to blood clot formation
high rate of skin necrosis if they get in
Warfarin with which medication can cause prolonged bleeding?
Warfarin can have increased risk of bleeding with diclofenac as the diclofenac displaces the warfarin making it more active and causing severe bleeding
What factors are inactivated by protein C and S?
Protein C and S inactivate factor 5 and 8; deficiency leads to clots
FFP has protein C/S and all factors
How can you identify iron deficiency on labwork?
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
When do you see:
Spur cells?
Target cells?
Teardrop cells?
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
What does a negative Coombs test rule out?
A negative Coombs test rules out 99% of immune hemolytic anemias (ABO or minor group incompatibilities)
bone pain that wakes people up at night
periosteal reaction: sunburst
typically presents in the second decade of life
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
Persistent pain in the diaphysis that looks like a small radioluscent center on xray
Osteoid Osteoma
t(11;22) translocation
no pain of the lesion
“onion-skinning” and moth eaten bone
in diaphysis
Ewing Sarcoma
stalk-like cortical outgrowth away from joint like a cauliflower
Not painful
usually on metaphysis of humerus or femur
Osteochondroma
How do you evaluate a child with isolated Horner’s Syndrome?
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
Patient presents with bone pain, FTT, raccoon eyes (periorbital ecchymoses and proptosis abruptly), subcutaneous bluish nodules, mass in the adrenal glands. What is the diagnosis?
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
What should you consider in a patient who presents with HTN and microscopic hematuria?
Wilm’s Tumor
usually asx and incidentally found
WAGR: Wilms, Aniridia, GU abnormalities, Reduced intellectual abilities
mets to the lungs
Patient presents with early morning headaches, emesis secondary to hydrocephalus?
Medulloblastoma
What are the early, mid, and late presentations of retinoblastoma?
Retinoblastoma: early presentation is strabismus, mid is leukocoria, and late is proptosis, bone pain, and increased ICP
What brain tumors are associated with NF?
NF associated with optic glioma and meningiom
Where do you find:
Diffuse intrinsic pontine Glioma?
Epyndemomas?
Medulloblastomas?
- 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
What determines high cholesterol vs acceptable?
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
When do you start statins on kids with high LDL?
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
A 6 hour old newborn presents with respiratory failure, heart failure, and abnormalities of venous drainage. What is the likely diagnosis?
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
A 15-year-old girl with asthma presents with recurrent episodes of malaise, coughing up brown mucous plugs, occasional hemoptysis, peripheral eosinophilia, high IgE. She improves with corticosteroid therapy but 2 to 3 months later the signs and symptoms recur. What is the likely cause of the recurrent episodes?
Allergic bronchopulmonary aspergillosis
– occurs in patients with asthma cystic fibrosis
-major clues for the recurrent nature with the associated eosinophilia and very high IgE
In eight-year-old girl presents with iron deficiency anemia that was initially diagnosed a year ago, progressive dyspnea, fatigue, recurrent cough with new onset him up to sis, and sputum that shows hemosiderin-laden alveolar macrophages. What is the diagnosis?
Idiopathic pulmonary hemosiderosis
16 year old F presents for well care. She discloses that she is sexually active. Which birth control method do you tell her is recommended as 1st line by the AAP?
Long Acting Reversible Contraception
- either an IUD or Depo shot
Leading cause of hospitalization in adolescents?
Pregnancy
1 cause of adolescent mortality?
Unintentional Injuries like car accidents, drowning, poisoning
- suicide is #2
- homicide is #3
First sign of sexual development for females?
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)
First sign of sexual development in males
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)
What is considered an obese BMI in adolscents?
> 95th percentile
overweight is > 85th percentile
Aside from low K and Mag, what other electrolyte abnormality do you worry about in refeeding syndrome?
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
A 17 year old female presents with amenorrhea, galactorrhea, and a negative pregnancy test. What is the most likely diagnosis?
Pituitary Adenoma
- prolactin-secreting adenoma
- most do not increase in size
- Bromocriptine, a dopamine agonist, often restores menses and decreases prolactin levels to normal
DES (Diethylstilbestrol) was used as an antiemetic in the 1960s. It is associated with which type of cancer in the offspring of women who took this drug during pregnancy?
Clear cell Adenocarcinoma
- can present with vaginal bleeding
