U-World: PEDIATRICS Flashcards
NF type 1 vs type 2:
1) Gene mutation
2) Chromosome
3) Main clinical features (3 for NF1, 1 for NF2)
What are Lisch Nodules?
1) NF1 tumor suppressor gene: neurofibromin
NF2 tumor suppressor gene: merlin
2) 17; 22
3) Cafe-au-lait spots, neurofibromas, lisch nodules (iris hamartomas)
Tay Sachs vs Niemann Pick
1) path?
2) epidemiology
3) onset
4) clinical features
Tay-Sachs Disease:
1) Beta-hexosaminidase A def.
2) AR inheritance, ashkenazi jew
3) age 2-6 months
4) loss of motor milestones, hypotonia, feeding difficulties, “cherry-red” macula, hyperreflexia
Niemann-Pick Disease:
Tay-Sachs+ HSM, A-reflexia, and sphingomyelinase def.
Fever, urticaria, polyarthralgia, lymphadenopathy 1-2 weeks following administration of PCN, TMP-SMX, cefaclor, in the setting of a viral illness
Serum sickness (drug-induced reaction)
NOT AN ALLERGY
What lab does factor 8 (VIII) affect?
aPTT
Define petechiae, purpura, ecchymoses.
What are petechiae a sign of, and therefore which types of disorders are petechiae seen with?
Petechiae (smallest), purpura (medium), ecchymoses (largest)
thombocytopenia, quaNtitative
Which pathway affects PT? PTT? Bleeding time?
PT - extrinsic (“PET”); 7; warfarin (“PT/INR”)
PTT - intrinsic; 12, 11, 9, 8 (“more numbers, more letters”); heparin (“hep”)
Bleeding time - platelet adhesion (vWF, etc.)
Lab Values in vWF disease? (3, explain)
- increased bleeding time (no good platelet adhesion)
- increased PTT (vWF stabilizes factor 8 normally)
- abnormal ristocetin test
Prolonged QT segment
3 causes?
tx?
2 inherited: Jervell and Lange-Nielsen syndrome (AR); Romano-Ward Syndrome (AD)
Electrolyte derangement a (hypokalemia, hypocalcemia, hypomagnesemia)
Propranolol with pacemaker
What is required for the diagnosis of Acute Lymphoblastic Leukemia (ALL)?
Test and result?
2 ddx and reason
> 25% lymphoblasts on BONE MARROW BIOPSY
not lymph node biopsy, that’s for lymphoma
(not smear, that helps, but doesn’t ESTABLISH dx)
What are the symptoms of atlantoaxial instability? What is it usually associated with?
C1-C2 excesive laxity, compression of spinal cord
-Upper motor neuron symptoms (spasticity, hyperreflexia, +babinski sign, clonus)
-torticollis
-urinary incontinence
vertebrobasilar symptoms (dizziness, vertigo, diplopia)
3 stages of pertussis and characterize
1) Catarrhal - mild cough, rhinitis (1-2 weeks)
2) Paroxysmal - POSTTUSSIVE EMESIS (2-6 weeks)
3) Convalescent - symptoms resolve (weeks to months)
5 “-emias” that SGAs are at risk for.
define SGA and LGA
SGA: 90th percentile
polycythemia, hypoxemia, hypoglycemia, hypothermia, hypocalcemia
Angelmann’s vs Prader Willi genetics.
Symptoms in both
Unique symptoms
THE MNEMONIC REFERS TO DELETION
Angelmann 15q11-q13 MATERNAL deletion (has 2 paternal)
Prader-WIlli 15q11-q13 PATERNAL deletion (has 2 maternal)
short stature and intellectual disability seen in both
Anglemann: laughter/smiling, hand-flapping, ataxia, seizures
Prader-Willi: poor suck, feeding issues, obesity, OSA, DM2
Herpangina vs Herpetic gingivostomatitis
(add more?)
coxsackie A vs HSV 1
3-10 years vs 6mo- 5 years
summer/early fall vs no seasonality
GRAY VESICLES/ULCERS ON POSTERIOR OROPHARYNX
vs
VESICLES ON ANTERIOR OROPHARYNX/LIPS
(fever and phayngitis present in both)
supportive vs acyclovir
Explain the physiology of the “knee to chest” maneuver
Increases SYSTEMIC VASCULAR RESISTANCE which increases pulmonary vascular flow and decreases cyanosis
What is the most common cause of abnormal (aka either amenorrhea or irregular menses) uterine bleeding? What does this mean as far as labs? What is the best treatment?
Immature hypothalamic-pituitary-ovarian axis
Insufficient gonadotropin release required to induce ovulation? (LH/FSH)
High-dose estrogen
Normocytic, normochromic anemia in a 2 month old born at 32 weeks gestation ?
Anemia of prematurity
Spondylolisthesis
Forward slip of vertebrae (usually L5 over S1)
Preadolescent child, slow onset of back pain, urinary dysfunction
Baby born to unimmunized mother, develops umbilical stump infection, and “whole body spasms” and poor suckling
Tetanus
What is club foot (other name), how to treat it?
Talipes Equinovarus:
1) equinus and varus of the calcaneus and talus
2) varus of the midfoot
3) adduction of the forefoot
Treat IMMEDIATELY with stretching and manipulation, followed by serial casts/taping/malleable splints, THEN surgery if that doesn’t work
Patient presents with breath holding spells, what is the next best step?
CBC, ferritin. Workup for Iron def. anemia
Beckwith-Wiedemann syndrome (5)
2 associations
2 screening
- macroglossia
- macrosomia
- umbilical hernia/omphalocele
- hemihyperplasia
- hypoglycemia
assoc: Wilm’s tumor, hepatoblastoma
screening: abdominal/renal U/S, alpha-fetoprotein
What defines neonatal polycythemia?
Expound
Hematrocrit>65%
Caused by delayed cord clamping, maternal HTN, maternal DM
Px: ruddy skin, RESPIRATORY DISTRESS, hypoglycemia, neuro
Risk for what complication with VUR disease? Why? Gold standard test? What usually is the workup for a boy with UTI?
Renal scarring 2/2 recurrent infections
VCUG gold standard
Renal and bladder U/S is recommended at 2-24 months for first UTI, if reassuring, no VCUG necessary
What is acute rheumatic fever?
How would you prevent it?
Dx it?
What are the valvular heart sequelae?
Complication of untreated GAS pharyngitis, leading to rheumatic heart complications
Penicillin to prevent pharyngitis JONES criteria (2 major, or 1 major, 2 minor) review these!
Mitral Stenosis (loud S1, mid-diastolic rumble)
Discuss the link between constipation and recurrent cystitis
This leads to rectal distention 2/2 fecal retention, which can compress the bladder, leading to urinary stasis, leading to recurrent infections
What is transient synovitis? Tx? Two ddx and their tx?
Most common cause of hip pain in children, usually after viral infection. Normal labs and no fever.
Tx: Rest and ibuprofen
Legg-Calve-Perth needs an xray (osteonecrosis of femoral head); Septic arthritis would have fever and elevated acute phase reactants
CF patient with co-occurring influenza? Tx?
Staph Aureus pneumonia, tx. IV vanco
When should vaccines be given? Gestational age or chronological age?
Always chronological
Labs in Turner
Ovarian dysgenesis -> low estrogen, inability to menstruate
High FSH and LH from LACK OF negative feedback
Compare and contrast Turner vs Kallmann
Turner, LOW estrogen, high FSH, LH, 45XO
Kallmann: hypogonadotropic hypogonadism with rhinencaphalon hypoplasia (no GnRH, anosmia, deylayed puberty, short stature); low FSH, LH NORMAL GENOTYPE
How should height and weight change by 12 months? (add more from kaplan?)
Height increase 50%, weight triple
Which vaccines can cause febrile seizures?
DTap, MMR
Best test when you see signs of hydrocephalus or expanding head circumference
CT! (MRI acceptable if patient is stable)
if just craniosynostosis, then skull Xray is sufficient
Pain worse only at night, BL LE, no physical impairment responds to OTC pain meds. Dx? Tx? Ddx?
Growing pains. Reassurance/observation, massage/stretching, OTC pain meds
Osteoid osteoma (USUALLY SEEN IN SECOND DECADE OF LIFE AND IS UNILATERAL)
Precocious puberty ages
Central vs peripheral (path, labs, etc.)
secondary sex characteristic <9 in boys
1) central: early activation of HPO axis/excess GnRH; high FSH/LH (just like Turner!), advanced bone age, breast development present?
2) peripheral: gonadal or adrenal release of excess sex hormones; low FSH/LH (like Kallman!), normal bone age and no breast development???
central warrants MRI/CT, tx GnRH analog
J wave on ECG means?
hypothermia
