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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!

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