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
- will have signs of severe androgen excess
o severe cystic acne
o significant growth accel
- can be 2/2 late-onset CAH
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?
- hammer toes,
- high plantar arches
Friedrich's ataxia. complications?
necrosis and degeneration of cardiac muscle fibers -->
- myocardial fibrosis
- concentric hypertrophic cardiomyopathy (usu. cause of death)
T wave inversion DDx
- old pericarditis
- myocardial contusion
- digoxin toxicity
Larygomalacia. what? natural h/o? mgmt?
- congential flaccid larynx.
- self-limiting, subsides by 18 months
- keep upright for 30 min after feeding
- GI polyposis
- mucocutaneous pigmentation
- estrogen secreting tumors-->precocious puberty
- Precocious puberty
- polyostotic fibrous dysplasia
- endocrine stuff...
McCune Albright's associated endocrine anomalies?
- pituitary adenomas
- adrenal hypercortisolism
Klumpke's. clinical findings? localization?
- hand paralysis & ipsilateral Horner's
- injury to C7, C8, T1
Gauchers. organs, findings
BONE MARROW. brain. liver. spleen
CRINKLED PAPER cytoplasm.
(type I nL lifespan)
MILD MR, coarse facies, prominent forehead, macroglossia.
"a mild form of Hurlers"
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
- 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
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.
Fanconi's Anemia. findings
8 y/o progressive pancytopenia with macrocytosis
- cafe-au-lait, short stature, microcephaly, microphthalmia, horseshoe kidneys, absent thumbs.
Fanconi's anemia. etiology, complications
due to chromosomal breaks, DNA repair implicated
- cancerous predisposition
c/v problem in DiGeorge / velocardiofacial
- truncus arteriosus
- tetralogy of Fallot
- interrupted aortic arch
metatarsus adductus type II
able to correct to neutral
Tx - orthosis, corrective shoes
- if no response --> casts
metatarsus adductus type III
Tx - serial casts.
for all three types, surgery if residual Sx a/f 4 y/o
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
- 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")
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
Von Gierke disease. lab abnormality & cause
fasting hypoglycemia b/c liver fails to release glucose
Breastfeeding jaundice. onset? cause? Tx?
Breastfeeding FAILURE jaundice
onset - 1st week of life
cause - insufficient calories
Tx - learn to breastfeed
Breast milk jaundice. onset? cause? Tx?
onset - 3 weeks
cause - increased bilirubin in enterohepatic circulation
Tx - interrupt breastfeeding if bilirubin super high
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.
Neonatal thyrotoxicosis Sx
- poor weight gain
w/u for primary amenorrhea
If no breast development-->check FSH
- dec. FSH --> GnRH stim test
- incr. FSH --> Karyotype
painless genital lesions. Dx?
- syphilis (ulcers, + painless LAD)
- granuloma inguinale / Donovanosis (red, raised lesions; no LAD)
Placental abruption in labor. Tx.
manage aggressively: rapid delivery removes retroplacental hemorrhage (impetus for DIC)
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?
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.
Lichen sclerosis. etiol. , complications, Tx?
chronic inflammatory condition
Cx: incr. risk vulvar squamous cell carcinoma
Tx: high potency topical steroids
Sudden onset lower quadrant abdominal pain radiating to groin (or back) + N/V + adnexal mass = ?
Granulosa cell tumors secrete ___?
excessive estrogen. Leading to precocious puberty or postmenopausal bleeding.
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!!
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)