Med Study 2 Flashcards
What is incontinentia pigmenti?
= an x-linked dominant disorder that causes skin lesions soon after birth
can mimic HSV
has 4 phases of skin lesions that take place over the first few years
also involves dental, hair and nail abnormalities
can be associated with mental disability
This congenital condition mimics HSV in the newborn
Incontinentia pigmenti
complicating this is both can cause seizures
Can males and females both present with incontinentia pigmenti?
No, only female infants will present with this x-linked dominant disorder, since it is lethal in hemizygous males
Describe the appearance of the first phase of skin lesions in incontinentia pigmenti
inflammatory vesicles and bullae all over the trunk and extremities
Supravalvular aortic stenosis, hypersensitivity to loud sounds, major interest and enthusiasm for music, difficulty with certain food textures/clothing textures, hypercalcemia, and mild to moderate intellectual disability =
Williams syndrome
Williams syndrome buzz words
outgoing social personality
mild intellectual disability
psych issues
aortic stenosis
liking music
“Cocktail party personality” think
Williams syndrome
Cause of Williams Syndrome
sporadic microdeletion on chromosome 7
Elfin like facies think
Williams Syndrome
Williams syndrome genetics
microdeletion on chromosome 7
A child has unusual facial features, short stature, pulmonic stenosis, bleeding problems and skeletal malformations but normal or only very mildly impaired intellectual ability. What syndrome does this child have?
Noonan Syndrome
Blank is a genetic disorder of connective tissue and is associated with aortic disection/weakness of the aorta, dislocation of the eye’s lens, being tall, and often have pectus deformities and scoliosis.
Marfan syndrome
Blank is a systemic vasculitis presenting with a purpuric rash and nephritis
IgA vasculitis
What are the PTT and PT in Hemophilia A?
PT/INR is normal
PTT is prolonged
In immune thrombocytopenia, what are the PT/INR and PTT?
Normal!
What are the PT/INR, PTT and platelets in DIC? (low/normal/high?)
PT/INR, PTT are prolonged
and plts are all low
In EBV mono, is it the anterior or posterior cervical lymph nodes that typically get swollen?
posterior
Conjunctivitis, exudative pharyngitis, and a morbilliform rash in the summer think
adenovirus
Who is most likely to get osteosarcomas?
adolescents during growth spurt
Most common presenting symptoms/findings for osteosarcoma
pain
swelling, that you can feel on exam
Does an osteoid osteoma usually cause persistent or intermittent pain?
Persistent
Stereotypical hand wringing is seen in this syndrome
Rett syndrome
Rett syndrome
= regression of motor and language milestones and acquired microcephaly starting around age 1, seen in girls
How to treat a digitalis/digoxin overdose:
Digoxin-specific Fab antibodies
What is a scotoma?
an aura or blindspot obstructing part of your vision
Electrolyte abnormality seen in digoxin toxicity
hyperkalemia
Symptoms of digoxin toxicity
nausea
vomiting
abdominal pain
scotomos/alterations in color vision
confusion, headache and weakness
ARRHYTHMIAS***
hyperkalemia
will occur about 6 hours post ingestion
Med used to treat acute dystonic reactions
benztropine
(acute dystonic reaction = involuntary contractions of the muscles of the face and extremities that occurs after taking an antipsychotic)
Drug you should give a child who presents with a beta blocker or calcium blocker ingestion
glucagon
will raise glucose and HR
What causes anovulatory cycles during the first two years following menarche?
An immature hypothalamic-pituitary-ovarian axis
There is an absence of a mid cycle surge of LH, and so ovulation does not occur
The normal mid-cycle surge of LH leads to ovulation and the development of
the corpus luteum
What is the job of the corpus luteum?
it’s job is to make the uterus a healthy place for a fetus to grow
so it releases progesterone after ovulation to support a new pregnancy if that occurs
What is the corpus luteum?
it is a temporary gland structure that forms from the empty follicle left behind after ovulation
it produces progesterone
Low levels of DHEAS (dehydroepiandrosterone sulfate) indicate
adrenal insufficiency
(measuring DHEAS levels is a way of measuring steroid levels in the body)
Low levels of IGF-1 and IGF-binding protein 3 are associated with this deficiency
growth hormone deficiency
In the menstrual cycle, there is a mid-cycle surge of
LH
Threshold for when to start phototherapy for a high risk infant at 48 hours of life:
11
so anything over 11 start photo
At 24 hours of life, what is the threshold at which to start phototherapy for a low risk infant?
12
so bili > 12 at 24 hours of life, start photo
Threshold for starting phototherapy in a low risk infant at 48 hours of life
> 15
Threshold for starting phototherapy in a low risk infant at 72 hours of life:
bili > 18, start photo
Which infants are in the low risk category when using bili tool?
Infants born at 38 weeks, 0 days or greater, and without risk factors
Which infants are in the medium risk category when using bilitool?
Infants who are well, without risk factors born at 35 weeks zero days to 37 weeks 6 days gestation
or
Infants born at 38 weeks, zero days or greater but who do have risk factors
Which infants are in the high risk group when using bilitool?
Infants born at 35 weeks, zero days to 37 weeks, 6 days WITH risk factors
Average max bilirubin level reached by full term ifnants
5-9 mg/dL (lower than I thought), usually peaking at 72-96 hours (3-4 days) of life
To get secreted, bilirubin must be
conjugated (so that it is water soluble and is able to be excreted in the bile)
(of note, bilirubin is NOT normally excreted in urine)
Jaundice within the first 24 hours of life is always
pathologic
Acholic (pale, putty colored) stools means there is an absence of blank in the stool
absence of bile in the stool
(this is due to biliary obstruction)
Two ways to define direct (conjugated) hyperbilirubinemia
20% or more of the total bili
or direct bili > 2
What is “bronze baby” syndrome?
= refers to when neonates with a high DIRECT bili who are put under phototherapy get a dark, brownish-gray discoloration of the skin
A double volume exchange transfusion should be considered when a neonate has a hemolytic process and the cord bilirubin is greater than
5 mg/dL
Name some complications of exchange transfusions:
thrombocytopenia
coagulopathy (bleeding)
portal vein thrombosis
NEC
hypokalemia and hypocalcemia
graft vs host reactions
infection
arrhythmias (not sure why for this one)
Healthy low risk infant exchange transfusion level at 24 hours of life
19
Exchange transfusion level for low risk infant at 48 hours of age
22
Exchange transfusion level for low risk infant at 72 hours of age
24
Exchange transfusion level for low risk infant at GREATER than 72 hours of age
25
For high risk infants, what is the exchange transfusion level at 24 hours of life?
15
For high risk infants, what is the exchange transfusion level at 48 hours of life?
17
For high risk infants, what is the exchange transfusion level at 72 hours of life?
18.5
For high risk infants, what is the phototherapy threshold at 24 hours of life?
8
For high risk infants, what is the phototherapy threshold at 48 hours of life?
11
For high risk infants, what is the phototherapy threshold at 72 hours of life?
13.5
For an infant born at 37 weeks, 2 days gestation with a positive DAT and ABO incompatibility, what should you do when their 48 hour bilirubin comes back at 12.5?
The key is this infant is in the HIGH risk group of infants
so photo needs to be started at any bili level > 11 at 48 hours
so start phototherapy.
oh, and ALWAYS check a direct bili “in any case of pathologic jaundice.”
According to MEDSTUDY, the most common cause of bacterial diarrhea is
campylobacter jejuni
Long term complications of a campylobacter jejuni diarrheal illness include
reactive arthritis
GBS (guillain-barre syndrome)
The most common cause of bacterial diarrhea in the United States is
Campylobacter jejuni
What shape is salmonella
rod shaped bacillus
bacillus i think basically just means rod shaped……
Is salmonella gram pos or gram neg?
gram neg
Tx for campylobacter jejuni diarrhea
macrolides (like azithromycin)
A 7 year has bloody diarrhea and abdominal pain, as do his siblings, after consuming chicken at a barbecue. Stool culture shows spiral-shaped, gram negative bacilli. What bacteria is causing this illness?
Campylobacter jejuni
Blank is a spiral or helical shaped gram negative bacilli that causes food borne diarrheal illness
Campylobacter jejuni
sounds kind of spirally
Sclerotic destruction in a sunburst pattern =
osteosarcoma
what does sclerosis mean
hardening
sunburst think
osteosarcoma
Blank is a benign bone lesion that usually presents with nocturnal pain
osteoid osteoma
An oval metaphyseal radiolucent lesion surrounding by sclerotic bone =
an osteoid osteoma
smooth borders
it’s benign
An osteochondroma is a benign tumor that typically occurs where? What does it look like on x-ray?
distal femur
proximal tibia (so the knee area)
or the proximal humerus
“multiple broad-based bony projections” on x-ray
Lytic, multilaminar periosteal elevation =
Ewing Sarcoma
Where does Ewing sarcoma usually occur?
long bones
What is Blount disease?
It’s when there is a slowly progressive genu varum deformity of one leg.
more common in black children.
it’s a disease that affects the growth plate around the knee, where one side (the medial side) of the growth plate just stops growing, but the outside continues to grow normally
can be seen in babies, kids or adolescents it seems like
Knee pain + leg that gradually “keeps getting more bowed” =
Blount disease
Exam in Blount disease
genu varum deformity on affected side/knee
tibial torsion below this deformity
leg length discrepancy
How to remember genu valgum
valGUM
gum makes your knees STICK TOGETHER
knock kneed
because of the gum that is sticking your knees together
bowed legs means your knees are close together or far apart
far apart
latin name for bow legs
genu varum
latin name for knock knees
genu valgum
GUM makes your knees stick together
X-ray in Blount disease will show
a prominent medial metaphyseal angulation (beaking) of the tibia on the side that has the bow leg
Blount disease is also called
tibia vara
Tibia vara: A condition that is characterized by disturbance of normal growth in the inner part of the upper tibia. Tibia vara causes a bowlegged gait and can impair the knees significantly. It is most common in children of African descent.
What is Tularemia?
“rabbit fever”
caused by francisella tularensis, a gram neg bacillus found in tics, rabbits and other animals in Arkansas, MIssouri and Oaklahoma
can cause a wide range of symptoms, including eschars
Treatment for tularemia
gent x 10 days
or stretomycin but who the heck uses that
alternatives would be cipro or doxy. just think gram neg, need something with gram neg coverage
except FYI, carbopenams don’t work here
Sudden onset fever/chills with an irregular ulcer in Arkansas, Missouri or Oklahoma in a boy who has a bunny think
Tularemia
Should healthy/immunocompetent children get the varicella vaccine if there is an immunocompromised relative at home?
yes
If a child who just got a varicella vaccine develops a varicella like rash, and has an immunocompromised relative at home, how should you advise them?
the immunocompromised relative needs to avoid direct contact with the varicella rash child until all lesions have crusted over
Most common side effect of the varicella vaccine
a varicella like rash
The most common cause of bacterial arthritis (aka septic joint) is
staph aureus
In a septic joint, the synovial fluid WBC count is usually over
50,000 WBCs
The most common type of congenital adrenal hyperplasia is
21-hydroxylase deficiency
Elevation of blank will confirm a diagnosis of CAH
17-OHP (17-alpha-hydroxyprogesterone)
Peak incidence of ALL is at these ages
age 2-5
Almost all childhood ALL develops from what kind of cells
b-cell precursors
aka immature b cells
so it would be very rare for it to be from mature b cells (1%)
about 14% are t-cell lineage instead
Ages that would be poor prognostic indicator in ALL
age less than 1
or age greater than 10
Multinucleated giant cells on Wright stain indicates
HSV
What illness does clostridium perfringens cause? What type of bacteria is it?
causes vomiting and diarrhea (food poisoning)
it’s a gram positive rod
clue cells and malodorous vaginal discharge =
BV
Tenosynovitis-dermatitis syndrome is caused by
Neisseria GONORRHOEAE
not meninigitidiis
Tenosynovitis-dermatitis syndrome is a form of disseminated gonococcal (GONOCOCCAL) disease
Is EBV (Epstein Barr virus) DNA present in the tumor cells of most Burkitt’s NHL?
In Africa, YES (present in 95%)
But in the US, the answer is actually no. Only present in 15-20% of cases.
Burkitt’s lymphoma is what type of lymphoma?
NHL (non-hodgkins lymphoma)
Most cases of Burkitt’s lymphoma present in what part of the body?
in Peyer patches within the GI tract, most commonly at the ileocecal junction
What are Peyer’s patches?
Peyer’s patches are groupings of lymphoid follicles in the mucus membrane that lines your small intestine.
In pediatrics specifically, are most cases of NHL (non-hodgkin lymphoma) low or high grade?
high grade
with RAPID cell turnover
for ex–Burkitt’s lymphoma
How does Burkitt lymphoma in children usually present ?
abodominal mass (most commonly at the location of the ileocecal valve), and N/V
iron is mostly absorbed where
the duodenum
and a little bit in the proximal jejunum
tx for giardia
metronidazole
Sweat chloride levels blank or higher are considered abnormal
> 60
B12 is absorbed where? what is its absorption dependent on?
ileum
needs intrinsic factor to be absorbed
spiral fractures of the long bones think
NAT
posterior rib fracture think
NAT
Infantile Cortical Hyperostosis (aka Caffey disease)
= an AD disease with incomplete penetrance that causes changes to the bones between the ages of neonate and 24 months. causes fever, inflammation, pain and swelling of the bones, often involves the mandible, and inflammatory markers will be up.
will see cortical thickening and subperiosteal new bone formation on xray.
will resolve by age 2!
and will start before age 6 mo.
How to differentiate between NAT and infantile cortical hyperostosis
infantile cortical hyperostosis (aka Caffey disease) will have mandible involvement almost always
Symptoms of infantile cortical hyperostosis (Caffey disease)
extreme irritability, fever, soft tissue swelling over different areas of bone
usually involves the mandible
Do infantile cortical hyperostosis pts get recurrent fractures?
No.
What is Shwachman-Diamond syndrome?
= an AR disorder that causes exocrine pancreatic insufficiency and subsequent FTT, neutropenia (can also have other cytopenias) and subsequent recurrent infections, and often skeletal deformities
bifid thumbs, repeated bacterial and fungal infections, FTT and frequent foul-smelling, greasy stools with a normal sweat chloride level =
Shwachman-Diamond Syndrome
Sweat chloride level in Shwachman-Diamond syndrome is
normal
Normal sweat chloride level
<40 mmol/L
neutropenia + pancreatic exocrine insufficiency think
Shwachman-Diamond syndrome
The second most common cause of exocrine pancreatic insufficiency (after CF) in children is
Shwachman-Diamond syndrome
(an AR disorder that causes neutropenia and bifid thumbs as well)
Why do Shwachman-Diamond syndrome patients get repeated bacterial and fungal infections?
due to severe neutropenia
Fat malabsorption, skeletal anomalies, and repeated infections due to neutropenia think
Shwachman-Diamond syndrome
recurrent epistaxis + vascular malformations of the lung, CNS, liver and GI tract think
Hereditary hemorrhagic telangiectasia
(also called Osler-Weber-Rendu syndrome)
What is Hereditary hemorrhagic telangiectasia? (aka Osler-Weber-Rendu syndrome)
= an AD disorder where you get bleeding problems and vascular malformations in the internal organs including the lungs, CNS, liver and GI tract.
you get lots of telangiectasias, but they may not show up until adolescence
What are telangiectasias
= small, widended blood vessels on the skin
usually harmless but can be associated with various diseases
The danger of hemorrhagic telangiectasia (aka Osler-Weber-Rendu syndrome) is….
you can have an arteriovenous malformation that causes pulmonary hemorrhage, or in CNS or GI tract.
Testicular exam in teenage male with fragile X syndrome will show
macroorchidism
Fragile X syndrome is caused by what, genetically speaking
expansion of a trinucleotide repeat in the FMR1 gene on the X-chromosome
Testicular exam in teenage male with Klinefelter syndrome will show
small testes
Why do teenage boys with Klinefelter syndrome have gynecomastia and small testes?
Becuase of decreased testosterone production
Is Klinefelter syndrome associated with cognitive delays?
No! intelligence and cognition are totally normal
A port wine stain is seen in this syndrome
Sturge-Weber syndrome
Almost all children with neurofibromatosis type 1 will have this skin finding
cafe au lait spots
3 major features of Sturge-Weber syndrome
port-wine stain
leptomeningeal angiomas
glaucoma
all due to blood vessel abnormalities
Hyperphagia think
Prader-Willi syndrome
How do neonates with Prader-Willi syndrome initially present?
With significant neonatal hypotonia and difficulty feeding
Chorioretinitis in the neonate suggests either of these two congenital infections
CMV
toxo
MED study says to give benzos before phenorbarb for neonatal seizures
WTF
Normal RDW =
12-15%
(RDW = red cell distribution width)
RDW in iron deficiency anemia vs thalassemia
Elevated RDW in iron deficiency anemia
normal RDW in thalasemia
Nontyphoidal salmonella mainly causes
gastroenteritis
Typhoidal Salmonella mainly causes
systemic illness with little to no diarrhea
Fever with relative bradycardia think
Salmonella typhi
How to remember DTap before Tdap
D before T
DTaP up until age 7, then at age 7 or older switch to Tdap
When to give tetanus immunoglobulin in addition to the tetanus vaccine
when the wound is dirty and a child has had LESS than 3 tetanus vaccines in their lifetime (or vaccine history is unknown)
What is triple A syndrome?
Achalasia
Alacrima (reduced or absent tears when crying)
adrenal insufficiency
Etox lesions usually occur when
2nd or 3rd day of life
At 2-3 days of life a well appearing infant has a rash with diffuse, yellow papules and pustules surrounded by large, erythematous rings on the trunk, face and extremities. The rash is most likely
Etox
Miliaria crystallina
= a superficial blockage of the eccrine (sweat) glands in a baby that resutls in diffuse very shallow “vesicles” that desquamate with light pressure
cooling the baby down helps
it will also self resolve
Transient neonatal pustular melanosis
= a benign rash that is present at birth.
= pustules on a NON erythematous base that transform into scaly, hyperpigmented macules
“Snuffles” + maculopapular rash (especially on palms and soles) in a neonate think
congenital syphilis
the snuffles are nasal secretions actually filled with the spirochete bacteria
Late signs (show up after age 2) of congenital syphilis
frontal bossing (really big prominent forehad)
saddle nose
short maxilla
also can have Hutchinson teeth (triangular, peg like permanant teeth )
and saber shins (anterior bowing of the tibia)
and deafness
Giant platelets and thrombocytopenia
= Bernard-Soulier syndrome
AR
the platelets don’t work properly–the cannot aggregate correctly because of a deficiency of glycoprotein 1b in their membrane
presents with severe mucocutaneous bleeding starting in infancy
A 6 month old with B-thal has a fever and her blood culture is positive for a GNR. Which organism is most likely causing her illness?
Yersinia enterocolitica
this is because it’s more common in babies and children with iron overload / those who are transfusion dependent
Blank disease is caused by impaired uptake of copper
Menkes disease
also called kinky hair disease
What is Menkes disease? Who gets it?
= a rare x-linked recessive disease caused by a mutation in the Menkes gene, leading to impaired uptake of copper
only boys get it
Menkes disease prognosis
Unfortunately very poor
progressive neurologic decline and seizures by 2-3 months of age
most patients will die around age 2
can cause subdural and retinal hemorrhages as well
Syndrome characterized by multiple hamartomas of the skin, mucous membraines, breast and thyroid
Cowden syndrome
mutation in the PTEN tumor suppressor gene
severe congenital neutropenia think
Shwachman-Diamond syndrome
What is Hyper-IgE, aka Job syndrome?
= a mutation in a transcription activator that leads to multisystem involvement
patients get:
-recurrent staph infections
-chronic dermatitis
-skeletal abnormalities
-pneumatoceles after any pulmonary infection
-retained primary teeth (as in like, two rows of teeth)
-IgE levels are also super elevated early in life
Recurrent “cold abscesses” (abscesses without pus) caused by staph aureus and strep pneumo think
Job syndrome (aka hyper IgE syndrome)
Recurrent abscesses without redness or pain think
Job syndrome (Hyper IgE syndrome)
these are “cold abscesses”
A 10 yo has an asymmetric face, broad nose, prominent forehead, triangular jaw, two rows of teeth (because their adult teeth came in but their baby ones haven’t been lost yet), hyperextensible joints, scoliosis, and recurrent skin infections. The diagnosis is
Job syndrome (aka hyper IgE syndrome)
The main organism responsible for the skin infections in Job syndrome is
Staph aureus
Lab abnormalities in Job syndrome (aka hyper IgE syndrome)
IgE level elevated early in life (can be normal later on actually)
eosinophilia
Is a high level of IgE needed to make the diagnosis of Hyper IgE syndrome (aka Job syndrome)?
No it’s actually not
since IgE levels can be normal especially as kids get towards adulthood
Besides Job syndrome, what else could cause a high level of IgE?
parasitic infections
atopic dermatitis
Persistent posterior fontanelle, umbilical hernia and prolonged jaundice think
hypothyroidism
The posterior fontanelle normally closes by
4 mo of age
Name 2 causes of a large posterior fontanelle
hypothyroidism
or increased ICP
What is caput succendaneum?
= edema/soft tissue swelling of the scalp
two words so can be in two areas
aka crosses suture lines
Does a cephalohematoma cross suture lines?
NO
since blood is located beneath the periosteum (outer surface of the skull)
When are cephalohematomas the biggest?
They usually enlarged over the first 2-3 days of life
and can take weeks (or even months) to resolve
In Myasthenia Gravis, autoantibodies are attacking what exactly?
the acetylcholine receptor
Antibodies attacking the acetylcholine receptor think
myasthenia gravis
Name an oral anticholinesterase medication that is used to treat myasthenia gravis
pyridostigmine
it increases the concentration of acetylcholine at the acetylcholine receptor, by blocking acetylcholinesterase
so it’s an acetylcholinesterase inhibitor
Medstudy does not want solid foods introduced before age
6 months
A newborn girl presents with virilization, no salt wasting, and hypertension. What is the diagnosis?
CAH
Specifically, 11-B-hydroxylase deficiency
CAH with virilization and hypertension =
11-B-hydroxylase deficiency
You find a hydrocele in a 2 month old. When should the child undergo repair if it persists?
age 1 year
(if it’s a noncommunicating hydrocele, it would usually resolve before age 1)
When should an inguinal hernia be repaired?
as soon as it’s diagnosed
Do noncommunicating hydroceles in newborn male infants usually resolve on their own?
yup
any hydrocele that is still present at 1 year of age should be surgically repaired
Clue cells think
BV
Epithelial cells that appear granular and stippled with ragged borders on saline wet-prep microscopy =
= clue cells
… = BV
Blank is a clinical syndrome where normal vaginal flora (Lactobacillus) gets replaced with anaerobes, Gardnerella vaginalis and mycoplasma hominis
=BV
homogenous, thin, grayish-white vaginal discharge, vaginal pH > 4.5, and a fishy odor that is present with a drop of 10% KOH is added to a sample of the discharge =
BV
A 1 month old infant presents with erythema of the scalp with a greasy scale. The most likely diagnosis is
Seborrhea
What causes seborrheic dermatitis? What is the informal name for it?
Also called cradle cap
Usually happens in infants in the first two months of life. It’s caused by lingering effects of maternal hormones on sebaceous glands. Improves on its own.
How to treat cradle cap (aka sebhorrhea):
usually asymptomatic and will resolve on its own, but, can treat with gentle shampooing with selenium sulfide or ketoconazole shampoo, or can use an emollient (moisterizer basically) to help remove the scales
can also show up on face and body, not just scalp
Is seborrheic dermatitis in infants usually asymptomatic?
yup
In the case of a fungal line infection, can you “treat through” and clear the line with antifungals or do you have to remove the line?
MUST remove the line
What cardiac condition is associated with Williams syndrome?
supravalvular aortic stenosis
How to treat chlamydia trachomatis urethritis
doxy 100 mg BID x 7 days
or, azithro 1 g single dose (but higher rate of tx failure with this, atleast in men)
What is renal tubular acidosis?
= a metabolic acidosis caused by a defect (often genetic) in renal tubule function, where the kidney is not able to hang onto enough bicarb
there are multiple types of RTA, but all will involve a normal anion gap (as in, non gap metabolic acidosis) and all will involve hypercholoremia
RTA is either due to a problem where the kidneys can’t hang on to enough bicarcb, or, where the kidneys hang on to too much
H+
Name the 3 types of RTA
Type 1
Type 2
Type 4
Type 3 is NOT a thing and does NOT EXIST so never pick that as an answer
Metabolic disorder that causes clots and strokes
homocystinuria
Why does homocystinuria cause clots and stroke?
high levels of homocysteine cause damage to blood vessels
