Misc Flashcards
2 very specific auto antibodies in lupus
dsDNA
Smith
SSA/SSB associated with what 2 things
Sjogrens
Neonatal lupus
RNP autoantibody associated with
MCTD
Young boy with lupus: think these 2
Klinefelters
Complement deficiency
Poisoning: plastics company, dysrrhythmia, sever metabolic acidosis
Cyanide
Give antidote kit or hydroxocobalamin
paraquat poisoning is often due to suicide attempt and causes ____
ARDS
pneumonia at birth, HSM, jaundice, rashes, hemolytic anemia
what is this?
congenital syphilis
c section baby
tachypnea
xray shows retained fluid in the fissures
transient tachypnea of the newborn
context of chlamydia pneumonia
mild pna develops in an exposed infant at several weeks of life
what to do for strabismus in a 3 month old
refer immediately to ophtho
most common cause of pediatric orbital cellulitis
local spread from places like the paranasal sinus
orbital vs. periorbital/preseptal cellulitis management
orbital- admit for IV abx
periorbital- outpatient PO abx
delayed umbilical cord separation, think _____
leukocyte adhesion deficiency
- leukocytosis
- risk for overwhelming bacterial infection
- antibody production is normal
- dx with flow cytometry
antidote for western diamondback rattlesnake
CroFab
antidote for arsenic
dimercaptosuccinic acid
antidote for clonidine overdose/poisoning
naloxone
which bites definitely need abx ppx
cat, monkey, human
long face, large ears, prominent jaw, macroorchidism, hypotonia, repetitive speech, gaze avoidance, hand flapping
fragile X
hypotonia, epicanthal folds, simian crease, cardiac lesions (VSD or AV canal), MR, propensity for leukemia
trisomy 21 (Down syndrome)
SGA, micrognathia, low set ears, cardiac defects, small palpebral fissures, microcephaly, cleft lip/palate, rocker bottom feet
trisomy 18 (Edwards syndrome)
microcephaly, cutis aplasia of the scalp, cardiac defects, holoprosencephaly, cleft lip/palate, coloboma
trisomy 13 (patau syndrome)
short stature, blue irides, cardiac abnormalities involving the pulmonary vessels, hypercalcemia in infancy, friendly attitude
williams syndrome
small sharply edged lesions that occur most commonly on head and neck of infants
-yellow orange, slightly elevated, hairless
sebaceous nevi
AA baby with 1-2mm pustules that rupture –> hyperpigmented lesion encircled by a collarette of scale
pustular melanosis
deficiency: cheilosis, glossitis, ocular problems, seborrheic dermatitis
riboflavin deficiency
seizure, peripheral neuritis, dermatitis, microcytic anemia are seen in -_____ deficiency
vitamin B6 (pyridoxine)
megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity suggest ______ deficiency
folate
biotin deficiency causes ______
dermatitis/seborrhea
bushy eyebrows, hirsutism, limb defects, VSD, MR
cornelia de lange syndrome
treatment of lead poisoning if severe
DMSA and calcium EDTA
aspirin/salicylate poisoning treatment
acetazolamide, IV Na bicarb +/- dialysis
organophosphate poisoning tx
atropine then pralidoxime
iron poisoning tx
deferoxamine
-causes red/vin rose urine
dimercaprol (BAL) for _____ ingestions
heavy metal
frothy malodorous vaginal discharge assoc with ____
how to tx
trichomonasl
metronidazole or tinidazole
tx for cyclospora diarrhea
bactrim then cipro
it’s a nonbloody diarrhea
what is diphyllobothrium latum, how does it present, how to tx
tapeworm
can present with B12 deficiency
tx with praziquantel
Li during pregnancy causes _____
ebstein anomaly
ACEI during pregnancy causes ______
renal dysgenesis, oligohydramnios, skull ossifications defects
isotretinoin during pregnancy causes _____
hydrocephalus, CNS defects, microtia/anotia, small or missing thymus, conotruncal heart defect, micrognathia, fetal death
congenital rubella syndrome
deafness, cataracts, MR, and heart defects
returns from Central America with pruritic lesion on foot; raised, red, serpiginous, few associated bullae
what is it and how to tx
cutaneous larva migrans
tx with ivermectin (antihelminth)
treatment for cradle cap (seborrheic dermatitis)
topical steroids or selenium sulfide-containing product
meds that can cause a photoallergic eruption include ____ and _____
griseofulvin
tetracycline
what med do you use to close a PDA
indomethacin
babies born to moms with lupus are at risk for this heart condition
heart block
kids on phenytoin should get this vitamin supplement
folate
in the developing world, give this vitamin to kids with measles
vitamin A
breastfed infant should get this vitamin
vitamin D
sickle cell patients should get this vitamin
folate
newborns get this vitamin
vitamin K
immunodeficiency: multiple abscesses
what is it and how to dx
chronci granulomatous disease
NBT/DHR
patient with weird infections and severe eczema
what is it, and what lab would you want
wisott aldrich syndrome
low platelets
-also eosinophilia and elevated IgE
kid with recurrent sinusitis, otitis, osteomyelitis
no lymph nodes and tonsillar tissue
what might this be and how do you diagnose
B cell defect- send serum Ig levels
frequent infections loud systolic murmur posteriorly rotated ears that are small and low set, down slanting and widely spaced eyes, small jaw, upturned nose hypocalcemic seizures what is this and how to dx real quick
digeorge syndrome
do intradermal skin test with Candida albicans- no response in kids with T cell deficiencies
protruding tongue, brushfield spots, neck webbing, MR, brachycephaly, upslanting palpebral fissures, epicanthal folds, flat face, small ears, cardiac issues, palmar creases, clinodactyly of 5th digit
trisomy 21 (Down syndrome)
which things increase risk of neuro damage in jaundiced infants
which things decrease the risk
increase: neonatal sepsis
decrease: metabolic alkalosis, increased attachment of bili to binding sites caused by drugs like sulfisoxazole, hyperalbumin, maternal ingestion of phenobarb during pregnancy
how to tx choanal atresia
surgery and placement of nasal tubes
when to give varicella zoster immunoglobulins to newborn babies
when mom has it within 5 days prior to delivery
when mom is diagnosed with it within 2 days after delivery
contraindications to breastfeeding
active TB
HIV
if taking antineoplastic agents, Li, cyclosporine, cocaine/heroin, amphetamines, ergotamines, bromocriptine, tetracycline
asphyxia at birth puts babies at risk for _____
persistent pulmonary HTN of the newborn
mom who has one congenital CMV kid… what about getting pregnancy again?
mother has antibodies to CMV that are passed to the fetus and it will most likely be fine
if neonate passes a bloody meconium in the setting of marginal placental separation, what test do you run?
apt-downey test
- can tell difference between fetal vs. maternal hemoglobin
- if it’s the mom’s blood from the delivery, then that’s fine
premie presents with distended abdomen, feeding intolerance, bloody stool
what is it and what to do
NEC
get a KUB –>
-if positive but no perf, then stop feeds, start IVF, order serial abdominal films, and start systemic abx
-if positive and perfed, then ex lap immediately
if two babies are premie and one is normal weight and one is SGA, what are the outcomes?
SGA baby has a higher risk of congenital malformations
how to tx galactosemia
stop breastfeeding and start soy based formulas
what is Erb-Duchenne palsy
C5 and C6
arm cannot be abducted, externally rotated at the shoulder, and forearm cant be supinated
waiter’s tip
what is Klumpke’s palsy
C7, C8, T1
palsy of the hand, Horner syndrome
subgaleal hemorrhage feels like a cephalohematoma that crosses the midline
when rapidly expanding and baby is tachy, what to do?
send baby to NICU for obs +/- fluid resuscitation
tremulousness and jitteriness that can progress to seizure activity 2/2 sludging of blood in the cerebral microcirculation
-what is it and how to tx?
hyperviscosity syndrome (2/2 polycythemia) tx with partial exchange transfusion with NS or LR
severe purulent conjunctivitis within 5 days of birth
what is it and how to tx
GC conjunctivitis
topical and systemic abx
give ppx with erythromycin upon birth if mom has it
conjunctivitis within 5-14 days of birth
what is it and how to tx?
chlamydial conjunctivitis
tx wit systemic abx
*however, asymptomatic infants born to chlamydia positive mothers are not routinely treated with oral abx at birth as ppx (in contrast to GC moms)
increased incidence of ______ in neonates receiving erythromycin
hypertrophic pyloric stenosis
how to reduce HIV infection from being vertically transmitted
anti-retrovirals for mom
a course of zidovudine to the child
-no need for special monitoring or routine radiographs
low weight short stature edema over dorsum of hands and feet loose skin folds at nape of neck shield chest coarctation of aorta horseshoe kidney
Turner syndrome
baby being born to a mother with chronic Hep B (HBsAg positive)
what to do?
give hep B Ig and hep B vaccine to the baby
which of the following when given to the mom is most likely to cause harm in a newborn infant at delivery: propranolol pcn Al hydroxide phenytoin heparin
propranolol
if neonatal jaundice is due to sepsis, you should see _____
increase in both direct and indirect bili
goat milk does not have enough ____ and ___
folate and iron
complications of cleft palate/lip
recurrent otitis media and hearing loss, speech defects
when to repair cleft palate and lip
lip- 2-3 months
palate- 6 months-5years
transient tachypnea of the newborn often occurs in babies who ______
are born via scheduled c section… 2/2 retained fluid in the lungs
baby with HSM, anemia, persistent, rhinitis, maculopapular peeling rash on face, palms, and soles
congenital syphillis
in twin to twin transfusions, what happens to the donor twin and what happens to the recipient twin?
donor twin- oligohydramnios, anemia, hypovolemia
recipient- polyhydramnios, plethora, larger, hyperviscosity, respiratory distress, hyperbili, hypocalcemia, renal vein thrombosis, CHF, convulsions
a _________ natal too requires further investigation
midline or markedly pointed
duodenal atresia, TE fistula, and trisomy 18 can cause ______hydramnios
renal agenesis can cause ______hydramnios
poly
oligo
longitudinal striations in the metaphyses are characteristic of congenital ______
osteochondritis or periostitis usually indicates congenital ______
rubella
syphilis
newborn with bilateral cataracts, micophthalmia, IUGR, hemorrhagic skin lesions scattered throughout body (blueberry muffin), harsh systolic murmur heard at left sternal border radiating to the lung fields
congenital rubella
newborn with hydrocephalus, chorioretinitis, intracranial calcifications, anemia
congenital toxo
newborn with microcephaly, intracranial calcifications, HSM, marked hyperbili and thrombocytopenia
can also have sensorineural hearing loss
congenital CMV
widely spaced eyes, low set ears, broad nose, receding chin, limb abnormalities
what is this and what does it put you at risk for
oligohydramnios (potter sequence) due to bilateral renal agenesis
pulmonary hypoplasia
tx for biotinidase deficiency is lifelong administration of ______
biotin (a vitamin)
maple syrup urine disease requires limiting intake of _____
leucine, isoleucine, and valine (AAs)
aniridia, GU anomalies, and hemihypertrophy most often associated with ____
Wilms tumor
lateral displacement of medial canthi, broad nasal bridge, medial hyperplasia of the eyebrows, partial albinism (white forelock or heterochromia), deafness
waardenburg syndrome- AD inherited
sturge weber with port wine stain puts you at risk for _____
seizures, mental deficiency, hemiparesis or hemianopsia
hypopigmented oval or irregularly shaped skin macules (ash leaf spots), cerebral growths, myoclonic seizures, adenoma sebaceum
-AD inheritance
tuberous sclerosis
shaken babies tend to have _____ hemorrhages in the brain
subdural
P anca associated with what
Churg Strauss
C anca associated with
Wegeners granulomatosis
Most specific antibody for lupus
Anti smith
Antibody that measures lupus activity
Anti dsDNA
NBD and DHR tests are for what
Chronic granulomatous disease
Jones criteria for rheumatic fever
which one is most frequent?
joints- polyarthritis ** most frequently seen heart- carditis nodules erythema marginatum sydenham chorea
how to tx tet spells if severe
most of the time, they are self limited and squatting helps
can give morphine and propranolol or sodium bicarb if super acidotic
Down syndrome is assoc with these two cardiac things
VSD
endocardial cushion defects
hydrops of the gallbladder is assoc with ______
KD
MCC myocarditis in kids
adenovirus
coxsackievirus
Osler nodes- small tender nodules in the tips of fingers and toes
janeway lesions- nontender hemorrhagic lesions on the hands and feet
splinter hemorrhages- dark lines under nails
uncommon findings of infective endocarditis
MCC organisms causing infective endocarditis in kids
strep viridans and staph aureus
what to give if cardiac massage doesn’t work for SVT
IV adenosine
what is quadruple rhythm (S3 and S4 present) associated with
ebstein anomaly
- RA hypertrophy
- RV conduction defects
this is the one cyanotic congenital heart disease that causes LVH and left axis deviation
tricuspid atresia
most of the other cyanotic congenital heart diseases cause RVH and right axis deviation
- 3 day old with single S2, progressive deepening cyanosis since birth, no respiratory distress
- CXR: no cardiomegaly, normal pulmonary vasculature
- EKG: right axis deviation
TGA
thrombocytopenia, bilateral absence of radius, abnormally shaped thumbs
what is it, what heart stuff is associated
thrombocytopenia absent radius (TAR) syndrome
TOF and ASD
short stature, normal weight, shield chest (guy), cryptorchidism, low set and malformed ears, ptosis, pectus excavatum
what is it and what cardiac issue?
noonan syndrome (male version of turner) pulmonic stenosis
inherited long QT associated with ________ in _______
not associated with ______ in ______
deafness in jervell lange nielsen- AR
romano-ward syndrome- AD
in hemiparalysis of the diaphragm, CXR might be normal so you order ______
chest ultrasound
numerical cutoffs for sweat chloride test
< 40 is normal
> 60 is diagnostic
how to tx gasoline, kerosene, and furniture polish aspiration
hydrocarbons
symptomatic tx sometimes with intubation and MV
adult in the house has active TB
what to do with the child who has pulmonary signs and what to do with the baby?
baby- 3 months of isoniazid then PPD
child- 6 months of INH, rifampin, and pyrazinamide
what appears to be recurrent lobar pneumonia in kids, hemoptysis, rapid clearing of radiographic findings
what is it and how to dx
idiopathic pulmonary hemosiderosis
bronchoalveolar lavage reveals hemosiderin laden macrophages
bacterial tracheitis vs viral croup
how to tx each
croup does not have high fever and usually only has inspiratory stridor
tracheitis tends to have high fever and both inspiratory and expiratory stridor
tracheitis- intubation, IV abx
croup- inhaled epi and oral steroids
-thumb sign on lateral neck xray
-drooling, dysphagia, muffled voice, sitting forward with neck hyperextended
what is it and what to do
epiglottitis- used to be HIB but now GABHS, moraxella, or strep pneumoniae
-intubation in the OR with skilled personnel
kid eats dirt and gets difficulty breathing and eosinophilia
what test to send
ELISA for toxocara
cannot dx with stool ova or parasites b/c it migrates out of the intestines and does not return
which sinuses drain into middle meatus
which sinuses drain into superior meatus
middle meatus- maxillary, frontal, anterior ethmoid
superior meatus- sphenoid or posterior ethmoid
developmental timeline of sinuses
maxillary and ethmoid in infancy
frontal 6-10 years
sphenoid 3-5 years
situs inversus
chronic sinusitis and otitis media
airway disease
primary ciliary dyskinesia, kartagener syndrome
h/o pharyngitis, abrupt onset of fever, refusal of food, drooling, muffled/noisy breathing
what is it and how to tx?
retropharyngeal abscess
-I&D if fluctuant
how to tx functional constipation
dietary changes, counseling on proper toileting behavior
can try stool softeners
curly Q on barium enema indicates _____
malrotation and volvulus
echogenic bowel on prenatal ultrasound
xrays show dilated loops of bowel
enema shows mircocolon
meconium ileus indicating CF
two molecular markers seen in Crohn’s vs. UC
Crohn’s- ASCA
UC- p-ANCA
intractable chronic constipation w/o fecal soiling
what is it and how to dx
hirschsprung
dx with Ba enema and rectal manometry
how to dx and tx intussusception
air contrast enema
currant jelly stools and sausage shaped mass in RUQ associated with what
intussusception
sandifer syndrome
neck arching caused by gastroesophageal reflux
tx for giardia
single dose tinidazole
3 days of nitazoxanide BID
5-7 days of metronidazole TID
painless GI bleeding in a 2 year old
most likely meckel’s diverticulum
how to dx lactose intolerance
hydrogen breath test
acidic stool pH in the presence of reducing substances
doughy skin is seen in what kind of dehydration
hypernatremic
hyperglycemia can be seen in _____ dehydration
hypernatremic
what to do with congenital indirect inguinal hernias in babies
consider getting surgery before discharge
activated charcoal is not useful for the following:
alcohols acids ferrous sulfate strong bases cynaide lithium K
activated charcoal is useful for the following
phenobarbital
TCAs
sustained release theophylline
what is sorbitol-MacConkey agar used to culture
Enterohemorrhagic E Coli (produces shiga-like toxins) found in poorly cooked beef
exclusive cow’s milk intake can lead to _____ deficiency
iron
night blindness, dry skin, conjunctiva, and sclera
vit A deficiency
exclusively breast fed infants should get ______ supplementation
vitamin D
how to dx GERD
esophageal pH probe
what to do for labial adhesions in pre-pubescent girl
observe or can use estrogen cream
lax wrinkled abdominal wall
dilated urinary tract
intra-abdominal testicular tissue
prune belly syndrome
to to manage central nephrogenic DI
maintenance of adequate fluid intake and diet
use of saluretic meds
anorexia, polydipsia and polyuria, vomting, unexplained fevers, glucosuria but normal blood sugar, abnormally high urine pH in the face of mild or moderate serum hyperchloremic metabolic acidosis, mild albuminuria in the presence of normal serum protein and albumin
fanconi syndrome (global proximal tubular dysfunction)
RTA1 (distal) and RTA4 both have positive ______
urine anion gap
how to tx acute lobar nephronia
prolonged course of antibiotics
isolated facial nerve palsy can be the sole manifestation of severe HTN in children
yep
rheumatogenic strains of GAS are only associated with ______
nephritogenic strains of GAS are associated with _____ and _____
pharyngitis
pharyngeal or skin infections
hereditary hearing loss, hematuria esp after URIs, ESRD common by 2nd-3rd decade of life, ocular abnormalities
alport’s syndrome
Bartter syndrome
lab values and how to tx
hypokalemia, hypercalciuria, alkalosis, hyperaldosteronism, hyperreninemia
normal BP
tx by preventing dehydration, nutritional support, normalize K
where is the gene for malignant hyperthermia
how to dx and tx
chromosome 19, ryanodine receptor
dx with caffeine contracture test
tx with dantrolene
what to do with the urine in aspirin overdose
acidification of the urine helps
demyelinaton in the CNS after an infection in kids < 10 years old
what is it and how is it tx
acute disseminated encephalomyelitis (ADEM)
- it’s an autoimmune demyelinating disease that resembles MS in history and physical and imaging (white plaques scattered) but occurs in young children, has systemic findings like fever and emesis
- tx with high dose steroids
tuft of hair over the spine indicating possible occult spinal dysraphism –> what history and physical exam findings might you see
what to do next
frequent UTIs
lower extremity hypotonia and muscle atrophy
-get imaging with CT, MRI, or US
this metabolic disease can cause poor growth and acute infantile hemiplegia
homocystinuria 2/2 thromboembolic events
what’s the ocular icepack test
test for myasthenia gravis
put an ice pack on the affected eye –> that eye should elevate within 5 minutes
what is acute infantile hemiplegia
essentially a stroke in kids
cherry red spot
sensitivity to noise/startles easily
what is it and what can you find on labs
tay sachs disease- AR inherited (GM2 gangliosidosis)
absence of beta-hexosaminidase A activity in WBCs
deficiency of both beta-hexosaminidase A and B
Sandhoff disease
normal child at birth then HSM, LAD, psychomotor retardation in the first 6 months, followed by regression after that
niemann-pick disease (type A) spingomyelinase
infant with increased tone, strabismus, organomegaly, FTT, stridor, several years of psychomotor regression before death
infantile gaucher disease
early infancy with irritability, seizures, hypertonia, optic atrophy, severe delay, death in first 3 years
krabbe disease- galactocerebroside beta-galactosidase
childhood with angiokeratomas in the bathing trunk area –> severe pain episodes
frequent low grade fevers
sometimes cataracts
fabry disease- alpha galactosidase reduced activity
distal muscle weakness in childhood, elevated CK, what is it and what else should you look for and how to dx
myotonic muscular dystrophy (unlike most muscle problems, it causes distal weakness)
- ptosis, baldness, hypogonadism, facial immobility with distal muscle wasting, cataracts
- dx with molecular blood test
what do you see on contrast head CT in TB meningitis
exudate in the basal cisterns that shows enhancement
subacute sclerosing panencephalitis (SSPE)
when does it occur and what do you see?
after measles
insidious behavior changes, deterioration in schoolwork, dementia
triplet repeat expansion on chromosome 9 makes you think of ____
Friedreich’s ataxia
abnormal neuro exam at birth –> over next few weeks, progressive CNS degeenration, enlarged liver and spleen, macroglossia, coarse facial features, cherry red spot, gingival hyperplasia, hernias, joint stiffness, dorsal dyphosis, edema of extremities
complete lack of acid beta-galactosidase activity
GM1 generalized gangliosidosis type 1
normal child at birth, rapid decline in motor and cognitive functions age 6-18 months of age
affected girls lose use of hands, communication, socialization
Rett syndrome- MECP2 gene on the X chromosome
onset 1-2 years
progressive ataxia, weakness, peripheral neuropathy
gray macular lesions
metachromatic leukodystrophy- deficient activity of galactosyl-3-sulfateceramide sulfatase
cherry red spot
GM1 generalized gangliosidosis type 1
sandhoff disease
niemann pick disease type A
tay sachs disease (GM2 gangliosidosis)
GBS tx
IVIG, steroids, plasmapheresis
anterior horn disorder that presents either in utero or by first 6 months of life with hypotonia, weakness, delayed milestones
werdnig-hoffmann disease/SMA type 1
SMN gene problem
calcifications in CMV vs. toxo
CMV- periventricular
toxo- scattered throughout the cortex
bullous eruptions that become hyperpigmented lesions, seizures
incontinentia pigmenti
milkmaid grip, emotional lability, hypotonic, darting tongue
sydenham chorea
chromosome of NF1
17
lisch nodules (hamartomas of the eyes) found in _____
NF1
PHACE syndrome
posterior fossa malformations hemangiomas arterial anomalies coarctation of the aorta eye abnormalities
shagreen patch (roughened, raised lesion over the sacrum)
tuberous sclerosis
white pinpoint lesions on a bright red buccal mucosa in the area opposite lower molars
koplik spots of measles
- mild sore throat and malaise –> adherent membrane covering the tonsils and extending to cover the uvula, palate, posterior oropharynx, hypopharynx, and glottic area
- LAD and soft tissue swelling –> bull neck and maybe airway compromise
diphtheria (corynebacterium diphtheria)
infant born to HIV + mom
what do you do while you await final determination of the kid’s status
bactrim for PCP ppx starting at 6 weeks
mitochondrial hepatopathy due to interaction of influenza or varicella infection and aspirin use
- high mortality
- elevated liver enzymes and ammonia (bili is normal)
- seizures, coma, hyperventilation, decorticate posturing
- death from cerebral edema and subsequent herniation
reye syndrome
seizure followed by diarrhea with mucus and blood
Ekiri syndrome- rare and fatal toxic encephalopathy
what is this, how to dx, how to tx
shigella
dx with stool culture
supportive care, 3rd gen cephalosporin abx
how to tx alopecia areata
exclamation hair
tx with UV light therapy, topical/intradermal steroids
roseola virus
HHV 6
hand foot and mouth disease
coxsackie A16 virus
echo 11 virus causes _________
viral meningitis
7 days of fever, chills, severe muscle pain, pharyngitis, HA, scleral injection, photophobia, cervical adenopathy –> seemed to get better –> then fever, nausea, emesis, HA, mild nuchal rigidity
-CSF shows monocyte predominant increased WBC and elevated protein
leptospirosis
most cases are mild or subclinical
two types: anicteric and icteric (weil syndrome)
anicteric leptospirosis course
-septicemic phase –> immune phase in which meningitic sxs return and can last up to 1 month
icteric leptospirosis course
-septicemic phase –> severe liver and kidney dysfunction
how to tx leptospirosis
PCN and tetracycline in kids > 10 years are good if started in the first week of sxs
antibiotic for pertussis
erythromycin
pertussis immunity: infection vs immunization
immunity 2/2 infection is lifelong
immunity 2/2 immunization wanes… thus the Tdap boosters that adults get
diffuse adenopathy, tonsillar enlargement, enlargedspleen, small hemorrhages on soft palate, periorbital swelling, atypical lymphocytes
EBV- infectious mononucleosis
infant who appears normal who has a sudden onset of high fever and marked elevation and left shift of the WBC count
pneumococcal bacteremia
prolonged low grade insidious nasopharyngitis that sometimes occurs in infants infected with GABHS
streptococcosis
_____ is an infection of the nasolacrimal sac
dacryocycstitis
_______ is a firm, nontender nodule that results from a chronic granulomatous inflammation of the meibomian gland
chalazion
what’s another word for measles?
rubeola
viral exanthem- high fever abruptly abates as a rash appears
roseola
mumps orchitis occurs mostly in ______ males
mumps can also cause meningitis at the same time as parotitis or 10 days after parotitis
post-pubertal
after rabies exposure, do these things
wound cleansing
rabies Ig
five shot vaccine series
treatment for RMSF
< 8 years old
8 and over- doxycycline
thrombocytopenia, eczema, increased susceptibility to infection
wiskott-aldrich (X linked recessive)
how to tx lyme
< 8 amoxicillin
8 and over- doxycycline
what is enterobius vermicularis
pinworm- anal itching
what is DRESS
drug rash, eosinophilia, and systemic sxs
-assoc with abx and AEDs
contraindications to LP in kids suspected to have meningitis
increased ICP in a kid with closed fontanelles
severe cardiorespiratory distress
skin infection at puncture site
severe thrombocytopenia or other coagulation disorder
barking cough
croup- parainfluenza
CATCH mnemonic is for ______
DiGeorge
cardiac, abnormal faces, thymic hypoplasia, cleft palate, hypocalcemia
T cell issues lead to issues with fungi, protozoa, acid fast bacteria, certain viruses
deficiency in all 3 classes of Igs
what is it and how does it present
X linked agammaglobulinemia (Bruton, XLA)
-after 3 months of age with recurrent and often simultaneous bouts of otitis media, pnuemonia, diarrhea, and sinusitis but w/o fungal and viral infections
mild T cell dysfunction low IgM high IgA and IgE eczema recurrent middle ear infections lymphopenia thrombocytopenia
wiskott-aldrich (combined T and B cell disease)
disorder of phagocytic chemotaxis associated with hypergammaglobulin E, eczema-like rash, recurrent severe staph infections
Joe Buckley syndrome
ampicillin rash is seen in _____
EBV infectious mononucleosis
name the organism:
foot wound through a shoe
foot wound through bare foot
pseudomonas
staph
thayer martin media is used to culture _____
gonorrhea
pneumonia 2/2 chlamydia shows _____ in peripheral blood
CXR shows ________
afebrile often
eosinophils
hyperinflation with interstitial infiltrates
very serious pneumonia causing ptx in kids < 1 year
staph pneumonia
pleural effusions and empyemas often seen in _____ pneumonia in kids who are a bit older
strep pneumo
how to manage ITP
if mild sxs- observe
if significant bleeding- IVIG and steroids (??steroids before ruling out leukemia with bone marrow biopsy)
if Rh (+) pt with working spleen, give anti-D immunoglobulin
if sxs > 1 year, consider splenectomy
when iron deficiency anemia occurs, FEP _______ in the blood
accumulate
hemoglobin A2 is increased in _______
beta thal trait –> family counseling only as tx
who might you give daily folate and PCN
sickle cell anemia pts
how to tx lead poisoning
dimercaptosuccinic acid
what is the kasabach merritt phenomenon and how to tx
large vascular anomalies in new borns –> plt and RBC sequestration within the vascular tumor causes thrombocytopenia, coagulopathy, and MAHA
-tx with steroids, alpha interferon, vincristine
inheritance of G6PD deficiency
what’s tricky about testing
X linked recessive
-testing for the enzyme right after a hemolytic episode might give you a false negative b/c only the young RBCs with good amounts of enzyme survive the episode
how to tx cyclic neutropenia
rhG-CSF
when does sickle cell disease manifest
4-6 months of life when fetal hemoglobin is replaced with sickled hemoglobin
newborn with anemia that’s not due to ABO or Rh incompatibility
fetomaternal transfusion
do kleihauer-betke stain to look for fetal hemoglobin in mom’s blood
EBV usually causes significant anemia and thrombocytopenia (T/F)
F
chromosome of wilms tumor
11
hereditary spherocytosis can cause neonatal hyperbili
T
in DIC, there is consumption the following (5 things)
fibrinogen
factors II, V, VIII
platelets
–> prolonged PT, PTT, TT; decreased factor VIII and plts; increased fibrin split products
PT tests for the following factors
I, II, V, VII, X
vitamin K dependent factors and what is prolonged
II, VII, IX, X
PT and aPTT
normal TT and plts
what does aminocaproic acid (amicar) do?
interferes with fibrinolysis and stabilizes a clot once it’s already formed by inhibiting plasmin
if you suspect Hodgkin lymphoma, what do you do next?
CXR which may show mediastinal mass
some target cells indicate _____
a lot of target cells indicate _____
thalassemia
hemoglobin C disease
______ presents in the second 6 months of life with severe anemia requiring transfusion, heart failure, HSM, weakness
later facial deformities (maxillary hyperplasia and malocclusion)
alpha thalassemia major
8 year old with hgb 8 and repeated admissions for hand pain and swelling
what is it and what might you see on smear?
SS disease
howell jolly bodies
usually a pretty mild anemia but you see tons of target cells
hemoglobin C disease
accumulation of _____ and its metabolites cause issues with liver, kidney, and CNS
notably acute liver failure in infancy or progressive cirrhosis and then liver failure… dietary management does not prevent liver disease
tyrosinemia type 1
3-4 months of age: FTT, hypoglycemia, hepatomegaly, acidosis
glucose 6 phosphate deficiency
infancy: cholestasis, bleeding into CNS/GI tract/umbilical stump, elevated transaminases –> chronic hepatitis and portal HTN
alpha 1 antitrypsin deficiency- chromosome 14
anemia, leukopenia, thrombocytopenia
liver and spleen involvement
erlenmeyer-flask appearance of long bones
what is it, what’s the cause, how to dx
gaucher disease
- beta glucocerebrosidase deficiency –> abnormal accumulation of glucocerebroside in the reticuloendothelial system
- dx with absence of glucocerebrosidase activity in leukocytes, skin fibroblasts, liver cells
- sphingomyelinase deficiency
- hexosaminidase A deficiency
- sulfatase A deficiency
- serum trihexosidase deficiency
type A Niemann-Pick
Sandhoff
juvenile metachromatic leukodystrophy
Fabry
babies born to hyperthyroid moms can develop ______
heart failure
distinctive white forelock, heterochromia irides, unilateral or bilateral congenital deafness, lateral displacement of the inner canthi
waardenburg syndrome- AD
short stature, microcephaly, centrally placed hair whorl, small ears, redundant skin on nape of neck, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, brushfield spots, protruding tonue, short and broad hands, simian creases, widely spaced first and second toe, hypotonia, duodenal atresia, VSD/TOF/endocardial cushion defect
Down syndrome
small testes that are firm and fibrotic
reduced upper to lower body segment ratio
high LH after age 12 years
Klinefelter syndrome
short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of hands and feet, coarctation of aorta
Turner syndrome
most likely cause of striae and central obesity in child
exogenous steroid administration and then bilateral adrenal hyperplasia
this IEM puts neonates at risk for E Coli sepsis
galactosemia
cataracts, ascites, elevated LFTs, low serum glucose levels
tx for ornithine transcarbamylase deficiency
protein restriction and supplementation
tx maple syrup urine disease
diet free from branched chain amino acids
high doses of vitamin B6 for this IEM
homocystinuria
IEM with mousy smell
PKU
elevated urine succinylacetone indicates _____
tyrosinemia
liver and renal dysfunction, growth failure, rickets, neuro sxs
elevated methionine and homocystine are assoc with ________
also cabbage smell, delays in walking, MR, muscle weakness
methioninemia
could also be asymptomatic
achondroplasia… are the limbs and trunk proportionate?
no
head is too big
limbs are too short
in _____ deficiency, the U:L ratio is normal often w/o other signs or sxs
GH
thyroid hormone deficiency causes stunting of growth with ______ proportions
persistence of immature body proportions
short trunk with short stature, marked slowing of growth, severe scoliosis, pectus carinatum, short neck
morquio syndrome (mucopolysaccharidosis IV)
hypothyroidism in a newborn can present as ________
prolonged jaundice and distended abdomen
umbilical hernia, kyphoscoliosis, deafness, cloudy cornea, claw hand deformity, progressive delay, HSM with coarse facial features, short stature, macrocephaly, hirsutism, decreased joint mobility
hurler syndrome (mucopolysaccharidosis type 1)
retinoblastoma chromsome
13
short stature with delayed boneage, MR, increased bone density esp in the skull, brachydactyly of 4th and 5th digits, obesity with round facies and short neck, subcapsular cataracts, cutaneous and subcu calcifications, perivascualr calcifications of the basal ganglia
pseudohypoparathyroidism (low Ca, high phosphorus but high PTH)
black diapers when exposed to air
homogentisic acid oxidase deficiency = alcaptonuria
ketoacid decarboxylase deficiency is what
maple syrup urine disease
wilson disease can cause fanconi syndrome
yep
what electrolyte issues do you see in nutritional rickets (vit D deficiency)
normal serum Ca
hypocalciuria
phosphaturia
what Ca and PO4 do you see?
- vitamin D resistant rickets
- pseudohypoparathyroidism (brachydactyly of 4th and 5th digits)
- osteogenesis imperfecta
- hypoparathyroidism (tingling and numbness –> seizures)
- medullary thyroid carcinoma
low PO4, normal Ca high PO4, low Ca normal PO4, normal Ca high PO4, low Ca normal PO4, normal Ca
severe hypotonia and poor feeding in a 6 day old
prader willi
obesity, mental retardation, hypogonadism, polydactyly, retinitis pigmentosa with night blindness
laurence-moon-biedl syndrome
rare cause of childhood obesity assoc with hypothalamic tumor
frohlich syndrome
tx of pseudohypoparathyroidism
large doses of vitamin D and reduction of phosphate load
return to play guidelines for concussions
grade 1: no LOC, confusion < 15 minutes
grade 2: no LOC, confusion > 15 minutes
grade 3: LOC
grade 1- can return to game
grade 2 or two grade 1s in one game- stay out for a week
grade 3- hospital eval
STD: inguinal adenopathy occurs at same time as ulcer
chancroid- chocolate agar
STD: LGV is caused by _________
inguinal adenopathy occurs after the ulcer has healed
chlamydia trachomatis
