Med Study 3 Flashcards
Define FUO
True fever every day for over a week with no clear etiology
PFAPA syndrome
= a benign periodic fever syndrome that usually starts before age 5
periodic fever, apthous ulcers, pharyngitis and cervical adenitits
relatively common, no known genetic cause
it’s a clinical diagnosis
Tx for PFAPA
single dose of prednisone will resolve the fever episode
The problem with giving prednisone to treat a PFAPA fever episode is….
while it will resolve that fever episode, it will shorten the duration of time until the next fever episode
Familial periodic fever syndrome
= an autosomal recessive disorder more common in mediterranean populations
has to do with the pyron gene on chromosome 16
Tx for familial mediterranean fever syndrome
Colchicine
What is the risk of not treating familial mediterranean fever syndrome?
Amyloidosis
(the protein amyloid builds up in organs over time and makes them not work)
Hyper IgD Syndrome
= an autosomal recessvie periodic fever disorder
most common in the French and Dutch
the problem is there is excess production of interleukin 1
presents young, before 1 year of age
Lab findings for hyper IgD syndrome
high IgD sometimes
but almost always have high IgA
respiratory depression + miosis =
opioid toxidrome
Oxycodone time to onset of action
20 min
Definition of VLBW infant
< 1500 g
Heroin withdrawal occurs how many hours after the last exposure
8 hours
1st sign of heroin withdrawal is usually
yawning
long part of a long bone is called the
diaphysis
end of long bone in a child is called the
epiphysis
blank is between the diaphysis and the epiphysis
metaphysis
growth plate is called the…..
physis
The growth plate or physis lies between which parts of a long bone?
The metaphysis and the epiphysis
Blank is a common benign bone tumor in children
osteochondroma
Tx for osteochondroma
leave it alone unless it causes symptoms, in which case, excise it
Hemihypertrophy + hamartomata =
Proteus syndrome
Blank syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues
Proteus syndrome
Genetics of Proteus Syndrome
due to a sporadic mutation in the AKT1 gene that occurs during fetal development, leading to some cells having the mutation and some not
this gene is responsible for regulating cell growth and division
so as a result, you get gigantism of the extremities, lipomas, angiomas, and hamartomas
Hamartoma
A hamartoma is an abnormal growth that’s made up of the same tissue from which it grows
Main side effect of zidovudine
bone marrow suppression
Trichotillomania is associated with this deficiency
= hair pulling, usually associated with OCD
but also can be associated with iron deficiency
The AAP recommends that kids not have access to online social networks until they are …..
teenagers.
The AAP recommends initial autism screening at what age?
18 months
The MCHAT, screening for autism, should be performed at these ages
18 months
24 months
and whenever there are concerns
staghorn renal calculi think
proteus infection
If an infant regurgitates the rotavirus vaccine, should it be re-administered?
Nope
At what age can preterm infants get the rotavirus vaccine?
same as term infants
must be at least 6 weeks old
and must be clinically stable and not in the nicu, to not spread the live virus ….
Contraindications to rotavirus vaccine
SCID
hx of intussusception
Endocarditis in children with normal valves is usually caused by
staph aureus
malar means
of or relating to the cheek
Keratitic precipitates associated with a “flare” during slit lamp examination =
findings of iritis and uveitis
exudative hemorrhagic lesions of the retina in a clinically ill child =
Roth spots in SBE
glossitis (swollen, inflamed tongue) + spooning of the nails (nails that look scooped out) =
iron deficiency anemia
Is IV iron more effective than oral iron when treating iron deficiency anemia?
No, it is equally effective but not more
adverse effects of MMR vaccine (name 2)
febrile seizures
immune thrombocytopenia
Is maternal gestational diabetes a risk factor for developing type 1 DM?
NOPE
What nerve palsy is frequently seen in children with increased ICP?
6th nerve palsy
presents as diplopia and eye turning in towards nose since lateral rectus isn’t working
Blank represents a group of disorders caused by proliferation/accumulation of cells derived from monocyte-macrophage lineage.
Langerhans cell histiocytosis
Most patients with LCH will have this feature
lytic bone lesions
Punched out, circular, lytic bone lesion think
LCH
Most common sites of LCH bone lesions
skull
femur
ribs
vertebra
humerus
Birbeck granules on electron microcsopy =
LCH
Immunohistochemical staining for CD1a/CD207 that is positive =
LCH
Lab results most specific for a diagnosis of systemic lupus erythematosus:
anti-dsDNA
anti-Smith
Anti-dsDNA is highly specific for this disease
Lupus
(specifically, SYSTEMIC Lupus)
Antihistone antibodies think
DRUG INDUCED Lupus
Name 3 drugs known to cause drug-induced Lupus
Procainamide
Quinidine
Hydralazine
Anti-Ro antibody (aka anti-SSA) think
NEONATAL lupus or sjogren syndrome
This antibody is much more specific for neonatal lupus than it is for just plain regular systemic lupus:
anti-SSA (anti-Ro)
This antibody is highly specific for SLE
anti-double-stranded DNA antibody
Name TWO antibodies that are HIGHLY specific for SLE:
anti-DS DNA
anti-Smith
The CDC defines a measles outbreak as
one confirmed case
What are estrogen and progesterone levels like in PCOS?
normal
What are free testosterone levels like in PCOS?
high
What are levels of LH and FSH like in PCOS?
LH is high.
FSH is low.
You get an elevated LH to FSH ratio.
The most common long term complication in girls/women with galactosemia is
primary ovarian failure
Why does galactosemia, even when well controlled, cause ovarian failure?
because galactose and it’s metabolites are toxic to the ovaries
A teen male athlete has gynecomastia, small testicles, hypertension, aggression, acne, and muscle mass increase. You should suspect
androgenic steroid use
The main type of antibody secreted in breast milk is
IgA
15 you has abrupt onset fever, cough with wheezing, join pains and a rash. It’s due to a this bacteria
Mycoplasma pneumoniae
Rashes that can be seen in mycoplasma pneumoniae infection
erythema multiforme, and SJS
Heme problem that can be seen in mycoplasma pneumoniae infection
hemolytic anemia
What is glutaric acidemia type 1?
= an autosomal recessive enzyme defect where you can’t break down lysine, hydroylysine, and tryptophan
so it’s a metabolic disorder
it can look like NAT, because can cause subdural hematomas and retinal hemorrhages
Which metabolic diseases can cause subdural hematomas and retinal hemorrhages?
Menkes disease
Glutaric acidemia Type 1
Why does Glutaric Acidemia Type 1 cause subdural hematomas and retinal hemorrhages?
Beucase in this metabolic disorder there is cortical atrophy, so the bridging veins are more likely to stretch and bleed
How does Glutaric Acidemia Type 1 present?
Infants will have macrocephaly but otherwise will have normal development actually
but then with any febrile illness or metabolic stressor, the baby will develop sudden hypotonia and dystonia and will be in a metabolic crisis and damaged will occur to the brain if not fixed very quickly
Are weight loss and growth failure more common with Crohn’s disease or UC?
Crohn’s
granulomas seen in IBD means this diagnosis
Crohn’s
Dilated scrotal veins =
varicocele
What is WAGR syndrome?
Wilms tumor
Aniridia
Genitourinary malformation
Reduced intellectual abilities
it’s due to an 11p deletion, where there is loss of the PAX6 gene and the Wilms tumor 1 gene (WT1)
When children with ADHD are started on a stimulant medication, what disorder may be unmasked?
Tic disorder
What mental health disorder is characterized by excessive, unrealistic fears that interfere with daily activities?
generalized anxiety disorder
Definition of generalized anxiety disorder in children:
when a child has excessive anxiety and worry occurring most days for at least 6 months
and has worries about multiple settings, like both home and school for ex
causes distress/impairment to daily life
herald patch 1-2 weeks before itchy rash on trunk in christmas-tree pattern =
Piryriasis rosea
Ddx for pityriasis rosea in adolescents also includes….
secondary syphilis
guttate psoriasis
Blank is the most severe of the spinal muscular atrophies
SMA1
(also called Werdnig-Hoffmann disease or severe infantile SMA)
Prognosis for SMA 1 (spinal muscular atrophy type 1)
most patients die by age 2 from respiratory failure :(:(:(
Proximal muscle weakness + tongue fasciculations in an infant =
SMA type 1
A 3 month old baby presents with hypotonia and weakness that is symmetric but more severe proximally. She is having tongue fasciculations and difficulty feeding. What is the most likely diagnosis?
Spinal muscular atrophy type 1 :(
Are there any sensory deficits in SMA?
No.
Define good asthma control
It’s really strict.
Good control means:
-2 or less episodes of day time symptoms per week
-1 or ZERO episodes of nighttime symptoms per month
If a child has nighttime asthma symptoms two times per month, is their asthma well controlled?
No
The most common cause of intoeing in a child learning to walk is
tibial torsion
it results from medial rotation of the tibia
usually self resolves in a few years …
The most severe tic disorder is
Tourette syndrome
Is Tourette syndrome genetic?
apparently it is
autosomal dominant
and more prominent in males
Do stimulants cause tics?
NOPE
they can unmask them, but they do not cause them
Is having a tic disorder a contraindication for starting medication for ADHD?
Nope
Because stimulant effects on tics is unpredictable
You have to have MULTIPLE tics for OVER a year to be diagnosed with
Tourette syndrome
Vitamin A deficient kids do worse if they get
measles
What does xerophthalmia mean?
dry eyes
What are bitot spots?
= build ups of keratin on the superficial conjunctiva of the eye
seen in vitamin A deficiency
Night blindness, dry eyes, bitot spots, growth failure, and increased susceptibility of infection =
vitamin A deficiency
Outpatient therapy for PID
doxy and flagyl
When can athletes return to play after a concussion
“after completion of a 6 step graduated return-to-play protocol”
18 yo w/genital ulcer. Wright stain shows rod-shaped, oval organisms within the cytoplasm of phagocytes. The diagnosis is….
These are donavan bodies (deep purple intracellular inclusions), which are gram neg rods swallowed by macrophages
The diagnosis is granuloma inguinale, caused by klebsiella granulmatous
rare in the US
Upper limit of normal mag level
2.3
anything over that is hypermag
Side effects of guanficine and MOA
alpha AGONIST
sedation, hypotension, bradycardia
Name an angiotensin converting enzyme inhibitor
enalapril
Name an ACE inhibitor
Enalapril
Can ACE inhibitors be taken during pregnancy?
NO
because of the teratogenic effects on the heart, CNS and kidneys
Why do ACE inhibitors cause severe harm to the fetus if taken during pregnancy?
ACE inhibitors cross the placenta. They then inhibit the renin-angiotensin system of the fetus, cause decreased glomerular filtration and decreased fetal urine production.
This then leads to LOTS of problems–including pulmonary hypoplasia from oligo, limb abnormalities, and facial deformities
Infant is born with flattened hands, widely separated eyes, low set ears and flattened facial features to a mom with oligo. What drug caused these teratogenic effects?
ACE inhibitors (lisinopril, enalapril, the prils)
Teratogenic effects of lithium:
Epstein’s anomaly (atrialization of the RV) and CNS defects
Phenytoin use during pregnancy will cause
fetal hydantoin syndrome
(IUGR, microcephaly, hypoplastic nails, hypoplastic dital phalanges, and potential developmental delays)
+ increased risk of cleft lip and heart defects
For unclear reasons, IgA is high and IgM is low in this syndrome.
Wiskott Aldrich Syndrome
impaired immune function leads to high IgA and low IgM
Do patients with TAR syndrome (thrombocytopenia absent radii) have immunodeficiency?
nope
bloody diarrhea, thrombocytopenia and kidney failure =
HUS
Disseminated Neisseria gonorrhoeae infection is also called
tenosynovitis dermatitis syndrome
pt will be ill with fever/malaise and then will ALSO get joint swelling/pain, and pustular/petechial skin lesions that can turn necrotic and are very painful
bc usually positive
Prosthetic hear valve means….
EITHER mechanical or bioprosthetic heart valve
Who needs prophylaxis against bacterial endocarditis when having a dental procedure done, and what should this prophylaxis be?
Prophylaxis of choice is just plain amoxicillin, 50 mg/kg with max adult dose of 2 g, given once orally 30-60 minutes prior to the procedure. Can use cephalexin, azithro or clinda if penicillin allergic.
Who needs this:
-anyone with a prosthetic valve (mechanical or bioprosthetic)
-unrepaired or palliatively repaired cyanotic congenital heart disease
-non valvular congenital heart repair where prosthetic material was placed in the last 6 months
-or after 6 months these same repairs if a residual defect exists next to the prosthetic material
Who does NOT need SBE prophylaxis before a dental procedure?
those with….
-bicuspid aortic valve
aortic or mitral valve disease where there is no prosthetic material/repair that has happened
-hypertrophic cardiomyopathy (duh…)
Most common mechanism of injury that causes an ACL tear
sudden deceleration and pivoting of the knee
A twisting motion of the planted leg describes the mechanism of injury for
a medial meniscus tear
A direct blow to the lateral side of the knee will cause what type of injury?
A medial collateral ligament tear
How does the PCL get injured?
A direct blow to the anterior knee when the knee is flexed
Are random growth hormone levels helpful in making a diagnosis of growth hormone deficiency?
No, because growth hormone secretion is pulsatile
(would need to do growth hormone stimulation testing to make the diagnosis of growth hormone deficiency)
Pes planus means
flat feet
Why is Tdap (rather than Td) recommended at the 11-12 yo visit?
because pertussis is common in adolescents
Lateral epicondylitis is also known as
tennis elbow
Blue nevus
= a normal lesion that does not need a biopsy or any workup at all. It’s well circumscribed, round or oval, papule, smooth, 2-10 mm in diameter with bluish black color, so often ppl get concerned it could be melanoma
Darier sign
= localized erythema and urticaria after gentle rubbing or stroking of a lesion
Erythema and wheal formation after stroking or rubbing the lesion is called
a positive Darier sign
Darier sign think
cutaneous mastocytosis
What is Mastocytosis?
= a group of disorders where there is accumulation of mast cells in the skin, and in some cases in other organs too
What are the different types of mastocytosis?
can have one isolated lesion
or multiple
or diffuse, where the entire skin is filled with mast cells
or, systemic, where other organs are involved too
What is the Nikolsky sign, and in what diseases do you see this?
= when you stroke the lesion gently and the upper layer of the epidermis comes right off
positive Nikolsky sign seen in TSS and SSSS
Fine points of punctate bleeding underneath scale that has just been removed describes what sign? What disease is this seen in?
Auspitz sign
seen in Psoriasis
The presence of isolated IgA deposits on kidney biopsy are indicative of either this disease or this disease
IgA nephropathy (Berger disease)
IgA vasculitis (aka HSP, but I guess we don’t use the name HSP anymore)
Berger disease
= IgA nephropathy
presents with recurrent painless gross hematuria, usually following a URI
need ongoing monitoring because can lead to proteinuria and hypertension over time
What is Leukocyte Adhesion Deficiency Type 1?
= a group of disorders actually, autosomal recessive, where there are recurrent severe bacterial and fungal infections with NO pus formation
neutrophils cannot get out of circulation and to the extravascular site of inflammation (this process is impaired)
How LAD1 (leukocyte adhesion deficiency type 1) might present in a 6 week old baby:
umbilical cord still firmly attached
with associated omphalitis
and even necrotizing fasciitis
with SUPER high neutrophil count
Babies and children with LAD1 (leukocyte adhesion deficiency) are at ESPECIALLY increased risk for infections caused by these two bacteria:
staph aureus
E. coli
Leukocyte adhesion deficiency prognosis
death from infection/poor wound healing usually before age 2-5, unless successful bone marrow transplant
Lab finding in patient with leukocyte adhesion deficiency
marked neutrophilia
super high neutrophils
Treatment for PCP (pneumocystis jiroveci penumonia)
Bactrim and steroids
(don’t need steroids if it’s really mild)
Up to 50% of babies with undiagnosed HIV/AIDs present how?
with PJP pneumonia between ages 3-6 months
Name one of the most common AIDs defining illnesses in the first year of life
Pneumocystis jiroveci pneumonia (PCP or PJP pnuemonia)
The combination of amikacin and azithromycin is useful for the treatment of
nontuberculosis mycobacteria
Hormonally/chemically speaking, puberty begins with…
the pulsatile release of GnRH
this causes LH and FSH secretion from the anterior pituitary
which go and eventually cause the ovaries to produce estrogen
These antibodies indicate that there has been a recent strep infection
ASO
anti-DNase B
The most common CHRONIC glomerulonephritis in kids is
IgA nephropathy
In post-infectious glomerulonephritis, what are C3 and C4 levels like?
C3 will be low
What are C3 and C4 levels like in Lupus nephritis?
both low
In IgA nephropathy, C3 is
normal
so is C4
normal normal
Name two causes of glomerulonephritis where C3 is low and will stay low
Lupus
MPGN (membranoproliferative glomerulonephritis)
In post-infectious glomerulonephritis, C3 will be low but will return to normal within 3 weeks
A child presents with two days of cola colored urine and a puffy face, and is found to have too-numerous-to-count RBCs and 4+ protein in her urine. How do you distinguish between post-infectious glomerulonephritis, IgA nephropathy, membranoproliferative glomerulonephritis and Lupus?
C3/C4 levels helps to distinguish
How does idiopathic hypercalcuria present?
gross or microscopic hematuria
can have associated dsyuria, urgency, and increased urinary frequency
can even have neprholithiasis
will have elevated spot urine calcium/creatinine ratio
Urine lab finding in idiopathic hypercalciuria
spot urine calcium/creatinine ratio that is elevated (>0.2)
and evidence of hematuria
A patient presents with hematuria and normal complement levels. Can they have post-infectious glomerulonephritis?
No
In PIGN, C3 will be low
Should patients with idiopathic hypercalciuria increase or decrease their calcium intake?
They should actually INCREASE their calcium intake.
This is because paradoxically, if you limit your Ca intake, your intestines will absorb more oxalate, and you get get increased stone formation from that increased oxalate. weird
Common early clinical finding in mono caused by EBV
periorbital and eyelid edema
(usually occurs after the fever starts, but before the sore throat and lymphadenopathy)
When someone gets periorbital and eyelid edema with the onset of mono, is there also associated conjunctivities or tenderness of the eyes/lids?
nope
just puffy and swollen
Rash often seen in mono, regardless of whether amox was given
morbilliform like rash
Describe the enanthum often seen in mono
petechial lesions at the junction of the soft and hard palates
Why can mono pts get jaundiced
they get icteric hepatitis
Large, basophilic-staining lymphocytes containing “foamy-lie” cytoplasm =
atypical lymphocytes seen in mono
How to confirm a diagnosis of EBV mono
EBV specific antibody panels
(as opposed to the rapid mono spot test, which identifies heterophile antibodies produced in mono, has lots of false positives and cannot actually confirm a mono infection)
The problems with the rapid mono spot test are ….
there are lots of false positives
AND false negatives when its early in the disease
How long should patients avoid contact sports to avoid splenic rupture after having mono?
1-3 months
Should you give steroids when treating mono?
Only if you are concerned about upper airway obstruction
Fever + slapped cheek appearance + fleeting erythematous maculopapular rash =
Parvovirus B19
Blank is the most common cause of hand, foot and mouth disease
Coxsackievirus A16
Human herpesvirus 6 causes what disease
Roseola
High fever for 2-5 days, fever breaks, and then an erythematous maculopapular rash develops
Roseola
What age group gets Roseola?
under age 3
Describe the ENANTHEM that can sometimes be seen in Roseola
erythematous papules of the soft palate and uvula (aka “Nagayama spots”)
Berliner sign
eyelid edema seen in Roseola infection
Symptoms of Cushing syndrome
Rapid weight gain, fatigue, exercise intolerance, muscle weakness, hyperandrogenism
An 8 AM cortisol level is helpful if you are evaluating for this disease
Adrenal insufficiency
It is NOT helpful in evaluating for Cushing syndrome or any other hypercortisol state
only helpful diagnostically when trying to figure out if there is a cortisol deficiency
8 am cortisol level is used to evaluate for
adrenal insufficiency
The best initial test if you are concerned a patient has Cushing Syndrome is
a 24-hour urinary free cortisol level
You suspect a patient has Cushing syndrome. Their 24 hours urine cortisol is neg. Could they possibly still have Cushing syndrome?
nope
Tests you can use to diagnose Cushing Syndrome:
-24 hour urine free cortisol level
-midnight or overnight serum or salivary cortisol level
-low-dose dexamethasone suppression test
Cushing Disease vs Syndrome
Cushing disease occurs when Cushing syndrome is caused by an ACTH-producing pituitary tumor, whereas Cushing syndrome is the set of symptoms that results when there is a surplus of cortisol in the body.
Febrile UTI less than 2 years of age means you need to get
a renal ultrasound
If a patient under age 2 presents with a febrile UTI for the first time, culture shows E.coli and it resolves appropriately with cephalexin or augmentin, what test you then order?
renal ultrasound
For patients with febrile UTIs, when should you order a VCUG in addition to a renal US?
-if it’s any bug other than e.coli
-if they’ve had more than 1 febrile UTI
-if the renal US is abnormal
-if the fever is >39
-any other complications with the UTI that would be concerning, such as hypertension or FTT
in kids of ANY age
What is erythema multiforme?
= a self-limited hypersensitivity reaction where you get pink patches and edematous plaques with dusky centers that look like targets
usually follows a viral infection– most commonly an HSV infection
Erythema multiforme is most often precipitated by
HSV infection
but can be other viruses or other triggers as well
Does erythema multiforme itch?
yes, mildly it can
What is erythema multiforme major?
it’s when mucosal surfaces are also involved (oral mucosa, etc)
Calculate NNT
= 1 / ARR
aka 1 / absolute risk reduction
where ARR is the percentage of the time the event happens in the placebo group - the percentage of the time the event happens in the treatment group
An 18 yo with a history of substance abuse comes in with diaphoresis, shaking chills, agitation, confusion, and marked anxiety. What drug are they withdrawing from?
benzos
Downers, blue footballs, tranks, xani-bars and totem poles are street names for
benzos
Danger of benzo withdrawal
seizures
Adverse effects of benzos
sedation
paradoxical aggression and anxiety
The most common identifiable cause of intellectual disability is
FAS
A harsh 3/6 regurgitant, pansystolic murmur heard best over the LLSB, accompanied by a thrill describes
A VSD
Which type of cardiac anomalies are most common in babies/children with FAS?
septal defects
like for ex a VSD
Bounding peripheral pulses think
PDA
Murmur heard in mitral stenosis
apical diastolic murmur
A 3 yo has a small head circumference, dysmorphic and facial features (short palpebral fissures, mild bilateral ptosis, midface hypoplasia, a long, smooth philtrum and thin upper lip). What is the diagnosis?
FAS
long smooth philtrum, midface hypoplasia, and thin vermillion border think
FAS
A systolic murmur heard at the APEX and preceded by a click describes
mitral valve prolapse
Harsh pansystolic murmur heard best of the LLSB think
VSD
In uncomplicated infant GER (NOT GERD, but just GER), should there be abnormal posturing?
nope
A mid-cycle surge of blank leads to ovulation and the development of a functional corpus luteum
LH (luteinizing hormone)
LH surge happens when and causes what to happen?
mid cycle. causes ovulation to occur
Anovulatory menstrual cycles, common in the first two years after menarche, are characterized by the absence of the normal midcycle surge of this hormone
LH
this means there is no ovulation
and no formation of a functional corpus luteum
What does the corpus luteum do?
Releases large amounts of progesterone
During a normal menstrual cycle there is a mid-cycle surge of
LH
