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Step 2 CK - Peds, OB/GYN

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2-6 y/o with isolated T/P after viral infxn
ITP. Tx - steroids if platelets <30 or Sx severe. Otherwise, observe
Mgmt for child swallowed battery
X-ray. In esophagus, remove endoscop. Past esoph, observe. Passes c/o problems in 90%. F/u w x-ray or stool exam
Tx for clavicular frx
none
SGA infants at risk for:
- polycythemia
- hypo-Ca
- meconium aspiration
Osteonecrosis, common complication of sickle, usu affects which bones
humerus, femur
Precocious pseudo-puberty
- gonadotropin-independent
- will have signs of severe androgen excess
o severe cystic acne
o significant growth accel
- can be 2/2 late-onset CAH
Osgood Schlatter
traction apopysitis
SLE confirmatory Abs
anti-smith, anti-dsDNA
Cephalohematoma
subperiosteal hemorrhage
Spondylolisthesis. what? who?
- developmental d/o w forward slip of vertebra (usu. L5 over S1)
- in preadolescents
Neuroblastoma. origin? findings?
- neural crest cells
- hemorrhages, calcifications
- incr HVA, VMA, catecholamines
Friedrich's ataxia. cause?
AR spinocerebellar ataxia caused by GAA repeat-->abnl tocopherol transfer protein
Friedrich's ataxia. clinical presentation?
- dysarthria,
- DM,
- scoliosis,
- hammer toes,
- high plantar arches
Friedrich's ataxia. imaging?
atrophy of cervical cord & cerebellum
Friedrich's ataxia. complications?
necrosis and degeneration of cardiac muscle fibers -->
- myocarditis,
- myocardial fibrosis
- concentric hypertrophic cardiomyopathy (usu. cause of death)
T wave inversion DDx
- MI
- myocarditis
- old pericarditis
- myocardial contusion
- digoxin toxicity
Premature adrenarche or thelarche?
no worries
Premature pubarche?
CNS d/o in 50%
Larygomalacia. what? natural h/o? mgmt?
- congential flaccid larynx.
- self-limiting, subsides by 18 months
- keep upright for 30 min after feeding
Rhemuatic fever. sx
- sydenham's chorea
- erythema marginatum
- subQ nodules
Congen rubella. findings
- deaf
- PDA, ASD
- cataracts
- blueberry
Meconium plug syndrome affects who?
not people with CF!
Local impetigo. Tx
topical mupirocin or oral erythromycin
Peutz-Jeghers. Sx.
- GI polyposis
- mucocutaneous pigmentation
- estrogen secreting tumors-->precocious puberty
McCune-Albright. Sx
- Precocious puberty
- cafe-au-lait
- polyostotic fibrous dysplasia
- endocrine stuff...
McCune Albright's associated endocrine anomalies?
- Hyper-T
- pituitary adenomas
o GH
o prolactin
- adrenal hypercortisolism
Klumpke's. clinical findings? localization?
- hand paralysis & ipsilateral Horner's
- injury to C7, C8, T1
Gauchers. inher.
AR
Gauchers. def.
beta-galactosidase = glucocerebrosidase
Gauchers. accum.
glucocerebroside
Gauchers. organs, findings
BONE MARROW. brain. liver. spleen
anemia, T/P.
CRINKLED PAPER cytoplasm.
(type I nL lifespan)
Fabrys. inher.
XLR
Fabrys. def.
alpha galactosidase A
Fabrys. accum.
ceramide trihexoside
Fabrys. organs, findings
HEART, KIDNEYS, brain.
MI, CVA, renal failure. NO hepatosplenomegaly.
Krabbes. inher.
AR
Krabbes. def.
galactosylceramidase
Krabbes. accum.
galactosylcerebroside
Krabbes. organs, findings
BRAIN.
optic atrophy, spasticity
Metachromatic. inher.
AR
Metachrom. def
arylsulfatase A
Metachrom. accum.
sulfatide
Metachrom. organs, findings
PERIPH NERVES, kidney, liver, brain.
findings?
Hurler's. inher.
AR
Hurlers. def.
alpha-L-iduronidase
Hurlers. findings
MR, CORNEAL CLOUDING, dwarfism, flat face, bulging forehead
Hunters. inher.
XLR
Hunters def.
iduronate sulfatase
Hunters. findings.
MILD MR, coarse facies, prominent forehead, macroglossia.
"a mild form of Hurlers"
Niemann-Pick. inher
AR
Niemann-Pick. def.
sphingomyelinase
Niemann-Pick. accum
sphingomyelin cholesterol
Niemann-Pick. organs
reticuloendothelial, parenchymal, brain
Tay-Sachs. def.
hexosaminidase
Tay-Sachs. accum.
GM2 ganglioside
Tay-Sachs. organs, findings.
brain, etc. STARTLE.
Farbers. inher.
AR
Farbers. def.
ceramidase.
"lipogranulomatosis / fibrocytic dysmucopolysaccharidosis"
Farbers. organs, findings
Joints - arthritis, shortening of muscles, tendons
CNS - MR
Liver, kidneys, heart
Throat - hoarseness, dysphagia
- nodules in lung, subQ.
die by 2 y/o. milder form live to teens.
Neuroblastoma arises from what mature (not embryonic) organs?
adrenals, sympathetic paraspinal ganglia
Dx PKU?
- blood PHE levels
- Guthrie test (qualitative coloration test, detects presence of metabolic products of PHE)
Porphyrias. Sx, Dx
Sx - neurologic signs, photosensitivity, hyperpigmentation
Dx - aminolevulinic acid & porphobilinogen in blood (or urine?)
normocytic, normochromic anemia. decreased reticulocytes. in babies born prematurely or hospitalized for long time
anemia of prematurity.
- nL WBC, nL platelets, nL Tbili
- 2/2 decr. RBC production, shortened RBC lifespan, blood loss
- Tx - iron supp (though doesn't prevent falling Hb)
- periodic Hb, blood transfusion if needed
Most common manifestation of Wiskott-Aldrich?
T/P. 2/2 decr platelet prduction. mean platelet count <50. platelets are small in size also.
Hemophilic arthropathy. path?
- iron deposition & synovial thickening with fibrosis
- 2/2 recurrent hemarthroses in pts with coagulopathies
septic arthritis. organism? Tx?
S. aureus.
Tx - arthrocentesis. empiric nafcillin or cefazolin
Diamond-Blackfan anemia findings.
- macrocytic anemia (withOUT hypersegmentation of neutrophilic nuclei)
- low retic count
- short stature, webbed neck, cleft lip, shield chest, triphalangeal thumbs
Diamond blackfan. cause of anemia? Tx?
"congenital hypoplastic anemia"
- intrinsic defect in erythroid progenitor cells --> increased apoptosis.
Tx - corticosteroids. transfusion if unresponsive.
Pure red cell aplasia without marcrocytosis after 1 y/o?
transient erythroblastopenia of childhood
Fanconi's Anemia. findings
8 y/o progressive pancytopenia with macrocytosis
- cafe-au-lait, short stature, microcephaly, microphthalmia, horseshoe kidneys, absent thumbs.
(AR)
Fanconi's anemia. etiology, complications
due to chromosomal breaks, DNA repair implicated
- cancerous predisposition
C/V problem in neonatal lupus
congenital heart block
c/v problem in Edward's
VSD
c/v problem in Williams
supravalvular aortic stenosis
c/v problem in congenital rubella
PDA
c/v problem in DiGeorge / velocardiofacial
- truncus arteriosus
- tetralogy of Fallot
- interrupted aortic arch
metatarsus adductus type I
mild. passive/active OVERcorrection
no Tx needed
metatarsus adductus type II
able to correct to neutral
Tx - orthosis, corrective shoes
- if no response --> casts
metatarsus adductus type III
rigid feet
Tx - serial casts.
for all three types, surgery if residual Sx a/f 4 y/o
CF DNA alteration?
DF508 - DELETION
temporal wasting, thin cheeks, upper lip inverted V. handshake sign (delayed relaxation)
myotonic muscluar dystrophy (Steinert Dx) - AD
- all types of muscle fibers affected
- nL at birth-->weakness/wasting
muscle groups most affected in myotonic muscular dystrophy
- distal hands
- posterior forearm
- anterior compartment of lower leg
Myotonic Muscular Dystrophy assoc. endocrine
DM, testicular atrophy, frontal baldness, hypo-T
Nitroblue tetrazolium
Chronic Granulomatous Disease
Sturge-Weber. presentation
- port-wine = unilateral cavernous hemangioma in trigeminal distribution
- p/w seizures (at any age)
Sturge-Weber. PE findings, imaging
- hemianopia, hemiparesis, hemisensory disturbance, ipsilateral glaucoma
- gyriform intracranial calcifications ("tramline")
Sturge-Weber. Tx
- control seizures
- decrease intraocular pressure
- Argon laser for skin lesion
WAGR syndrome
Wilms tumor
Aniridia
GU anomaly
MR
WAGR syndrome. mutation
chromosome 11. deletions of WT1 and PAX6 (aniridia)
abdominal defect in congenital hypo-T
umbilical hernia (NOT omphalocele)
Beckwith-Wiedemann. congenital anomalies
- macrosomia, microcephaly
- prominent eyes & occiput
- macroglossia, ear creases
- OMPHALOCELE, visceromegaly
- pancreatic hyperplasia
Beckwith-Wiedemann. Sx, mutation, complications
Sx. hypoglycemia WITH hyperinsulinemia.
- usu. sporadic duplication 11p (contains IGF-2)
Increased risk of
- Wilms tumor, hepatoblastoma, gonadoblastoma
Denys-Drash syndrome. clinical features.
- male pseudohermaphrodism
- increased risk Wilms tumor
- early onset renal failure with mesangial sclerosis
Galactosemia. Sx, time of onset
Sx start a few days/weeks after starting formula or breast milk
- liver failure - hepatomegaly, coag d/o, direct hyper-bili
- anorexia, emesis, acidosis
- abnl renal fxn
- glycosuria
Von Gierke disease. lab abnormality & cause
G6P deficiency.
fasting hypoglycemia b/c liver fails to release glucose
Hemophilia. Tx
mild: DDAVP
severe: replace factor VIII
IgA deficience predisposes to infection with...?
Giardia
SCID enzyme deficiency
adenosine deaminase
Most common cause hypo-T in US?
thyroid dysgenesis
Most common cause hypo-T in world?
iodine deficiency endemic goiter
Breastfeeding jaundice. onset? cause? Tx?
Breastfeeding FAILURE jaundice
onset - 1st week of life
cause - insufficient calories
Tx - learn to breastfeed
(unconjugated hyperbilirubinemia)
Breast milk jaundice. onset? cause? Tx?
onset - 3 weeks
cause - increased bilirubin in enterohepatic circulation
Tx - interrupt breastfeeding if bilirubin super high
(unconjugated hyperbilirubinemia)
Sickle cell anemia. lab findings
compensated hemolytic anemia with reticulocytosis
Sickle cell. causes of acute, SEVERE anemia.
1 - aplastic crisis - arrest of erythrocytosis, caused by parvo B19 or other infxn.
2 - splenic sequestration crisis
3 - hemolytic crisis
Splenic sequestration crisis in Sickle. etiology, findings, Tx.
- vaso-occlusion RBC pooling in spleen
- decr. Hb, but persistent reticulocytosis
- raplidly enlarging spleen, hypotension, shock
Tx - splenectomy a/f first episode.
Intussusception is associated with...?
- Meckel's
- Henoch-Schonlein purpura
Fetal complications of gestational diabetes
- hypo-Ca
- polycythemia
- cardiomyopathy, CHF
Premenopausal woman with simple / complex hyperplasia withOUT atypia. Tx?
cyclic progestins
Neonatal thyrotoxicosis Sx
- goiter
- tachypnea
- cardiomegaly
- restlessness
- diarrhea
- poor weight gain
Use ___ to determine ovulatory reserve.
serum inhibin. (decreases in older women)
w/u for primary amenorrhea
If no breast development-->check FSH
- dec. FSH --> GnRH stim test
- incr. FSH --> Karyotype
Savage syndrome = ?
resistant ovary syndrome
painless genital lesions. Dx?
- syphilis (ulcers, + painless LAD)
- granuloma inguinale / Donovanosis (red, raised lesions; no LAD)
How to diagnose primary syphilis
dark field microscopy b/c RPR has high false negative rate
Placental abruption in labor. Tx.
manage aggressively: rapid delivery removes retroplacental hemorrhage (impetus for DIC)
Possible complications of amniotic fluid embolism?
DIC
Plan B = ?
levonorgestrol
Best single U/S marker of fetal size.
abdominal circumference. (b/c in asymmetric fetal growth restriction, head size nL & decr. abd. circ.)
Dysfunctional uterine bleeding. definition? cause?
heaving bleeding in absence of structural or organic disease. caused by anovulation.
Dysfunctional uterine bleeding. Tx?
mild: iron
moderate (i.e. no acute bleeding): iron + progestin
severe: high-dose estrogen
If immediately after rupture of membranes: Antepartum hemorrhage + fetal tachycardia to bradycardia to sinusoidal... = ?
Vasa previa. Maternal vital signs will be stable, b/c blood is fetal.
Vasa previa. Dx?
Apt test. differentiates fetal from maternal blood. If positive, blood = fetal.
"repetitive late decels" = ?
sinusoidal
Steroids for PPROM b/f what age?
32 or 34 weeks?
Missed Ab Tx options
- D&C
- misoprostol
- expectantly with serial imaging
Lichen sclerosis. etiol. , complications, Tx?
chronic inflammatory condition
Cx: incr. risk vulvar squamous cell carcinoma
Tx: high potency topical steroids
MgSO4 toxicity. Tx.
- stop Mg
- give calcium gluconate
Sudden onset lower quadrant abdominal pain radiating to groin (or back) + N/V + adnexal mass = ?
ovarian torsion!
Granulosa cell tumors secrete ___?
excessive estrogen. Leading to precocious puberty or postmenopausal bleeding.
Empiric PID Tx?
- cefoxitin / doxycycline
- cefotetan / doxycycline
- clindamycin / gentamycin
What to do if MSAFP abnl?
U/S - confirm singleton, correct dates
Stein-Leventhal syndrome = ?
PCOS
What is Fitz-Hugh-Curtis Syndrome?
liver capsule inflammation, complication of PID.
"violin-string" adhesions on laparoscopy.
Definition of intrauterine fetal demise?
death of a fetus in utero after 20 weeks gestation & before onset of labor.
Management of intrauterine fetal demise?
check coags! low-nL fibrinogen can be an early sign of consumptive coagulopathy especially if:
- decr. platelets
- incr. PT, PTT
- + fibrin split products
*** If suspect DIC==> deliver!!
Risk factors for cervical insufficiency?
- h/o EAB
- h/o 2nd trimester SAB
nL width of cervix at 23-28 wks
>25 mm
Vaginal squamous cell carcinoma p/w? management?
women > 60
Sx: vaginal bleeding, malodorous d/c
Tx: < 2 cm ==> surgery
> 2 cm ==> chemo/radiation. (also for poor surgical candidates)
PPROM a/f 34 weeks, management?
just deliver!