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)