outpatient week 7 Flashcards
common causes of acute bilatearl cervical lymphadenitis
Viral URI
GAS
common cause of chornic bilateral cervical lymphadenitis
EBV, CMV
common cause of acute unilateral cervical lymphadenitis
S aureus
GAS
noninfectious causes of cervical lymphadenitis
CTD, leukemia, lymphoma, kawasakia
meds
common cause of chronic unilateral cervical lymphadenitis
nonTB myobacterium
bartonella henselae
What is the most common congenital long QT syndrome?
Romano-Ward syndrome
AD
What is the mainstay of treatment for patients with congenital long QT syndrome?
non-cardioselective beta blockers: propanolol, nadolol
What is congenital long QT syndrome?
affects myocardial repolarization
What congenital neurological disorder only affecting females is associated with QT prolongation?
Rett syndrome
What 6 common pharmacological agents are known to cause acquired long QT syndrome?
quinidine, amiodarone
haloperiodal
eryhtomycin
A pediatric patient with impaired hearing and palpitations should be suspected of having what congenital condition?
Jervell and Lange-Nielsen syndrome
sensoineural deafness
What arrhythmias are associated with congenital long QT syndrome?
ventricular tachyarrythmias
torsades de pointes
Juvenile Angiofibroma
nasal obstruction, nasal mass, frequent nosebleeds
Fanconi Anemia
abnormal thumbs, hyper/hypo pigmentation
pilocarpine inotrophoresis =
sweat test
galactosemia
FTT
bilateral catarcts
jaundice, hypoglycemia
Potter Sequence
UT anomaly –> anuria in utero –> oligohydroamings –>
pulm hypoplasia, flat facies, limb deformation
neonatal polycythemia
hct more than 65%
leesch nyan
x linked
def HPRT
self harm
most common predisposing factor to orbital cellulitis
bacterial sinusitis
tinea capitis treatment
griseofulvin
fulminant meningococemia
purpura on flank due to adrenal hemorrhage
hyper igm
decrease igg, iga, increased igm
x linked
cd40 igand
HUS smear
schistocytes
large platelts
minimal change disease histopath
normal
most common causes of osteomyelitis in SCD
salmonella and staph
anemia of prematurity
normocytic, normochronmic
low retics
nml everything else
umbilicated vesicles
herpec eczema
stroke after foreign body injury
ICA dissection
retinal vascularization
16 weeks
center outward
ROP=
vasoprolifererative disorder of the eye
incidence of ROP in infants weight less than 1250g
50-70%
resp failure contributes to ROP by
hypoxemia - upregulate VEGF
hyperoxemia - downregulate VEGF
BV constrict
screening for ROP
infants less than 1500g or GA of 31 weeks or less
mump complications
orchitis
meningitis
mumps neuro complications
encephalitis, deafness, GBS, transverse myelitis
mumps hallmark
swollen, tender parotid glands
mumps sterility
if bilateral
mumps type of virus
ss RNA, paramyxovirus
mumps affects what tissues
parotid glands
testis, ovaries
meningies
mumps meningitis prognosis
self limited
mumps incubation period
18-21d
antibody titer rise in mumps
fourfold rise
ASD physical exam
wide fixed split s2
systolic ejection murmur at ULSB
What additional test is performed during echocardiography to better visualize a patient’s atrial septal defect?
agitated saline contrast can illustrate the defect
multiple bubbles
What are some complications that may be seen in patients with an uncorrected atrial septal defect?
eisenmenger's syndrome pulmonary htn RV dysfxn -- RHF a fib stroke, paradoxical embolus
ASD CXR
right heart enlargement
increased pulmonary vascular markings
How does excessive urinary loss of protein lead to prothrombotic state that would predispose patients to renal vein thrombosis?
decreased antithrombin III
Renal vein thrombosis is most commonly seen in patients with what underlying disorder?
nephrotic syndrome
- 3g/d protein loss
- hypoalbumin
- hyperchol
- edema
What are four general signs and symptoms associated with renal vein thrombosis?
hematuria, pain
flank masses, oliguria
What signs of nephrotic syndrome should patients with renal vein thrombosis be observed for?
edema, anasarca
What findings may signal bilateral renal vein thrombosis in the pediatric patient?
gross hematuria
bilateral flank masses
What risk factors are associated with renal vein thrombosis of infancy?
RCC, antiphospholipid
umbilical venous cather placement
behecents
moms with DM
What is the method of choice for noninvasively diagnosing renal vein thrombosis?
CT with contrast
What ultrasound findings are associated with renal vein thrombosis?
swollen, echogenic kidneys
What pharmacologic agents can be used to reduce proteinuria associated with renal vein thrombosis?
ACEI, ARB
What prothrombotic complication may result from renal vein thrombosis? What prophylaxis should be administered?
pulmonary embolism
warfarin
When is surgical intervention indicated in the management of renal vein thrombosis?
when associated with RCC
horseshoe kidney and malignancy
wilm’s
pathophys of horseshoe kidney
midline fusion of lower kidney poles
horseshoe kidney complications
compressing ureters –> UTI, nephrolithiasis
What symptoms should prompt a physician to suspect the presence of an osteoid osteoma?
neck, back pain
painful scoliosis
radicular or referred pain to lower limb or shoulder
What is the role of biopsy in the workup of an osteoid osteoma?
rarely needed
What is the typical presentation of a patient with an osteoid osteoma?
pain that is worse at night
relieved by aspirin
What is the most common location for osteoid osteomas to develop?
shafts of long bones
How is an osteoid osteoma diagnosed?
plain radiographs
What malignant changes are associated with an osteoid osteoma?
none!
What is an osteoid osteoma?
benign osteoblastic neoplasm in young men
What makes osteoid osteomas difficult to diagnose during the initial presentation?
pain precedes their apperance on imaging
What is the appearance of an osteoid osteoma on plain radiograph?
small central nidus wiht surrounding bony sclerosis
What treatment options are available for patients with an osteoid osteoma?
medical
radiofrequency ablation
surgical
osteoid osteoma medical treatment
aspirin, nsaids
What are the physical exam findings of ventricular septal defect? What are the characteristics of the murmur?
pansystolic murmur at LLSB
systolic thrill
loud s2
What are the clinical manifestations of ventricular septal defect?
resp infections, FTT
dyspnea, SOA
heart failure
In patients with a large ventricular septal defect, what is seen on the electrocardiogram?
LVhypertrophy w/or without RVH
What is the management of a small ventricular septal defect?
monitered
medically managed
What is seen on chest X-ray in patients with symptomatic ventricular septal defects?
cardiomegaly
marked pulmonary vasculature
pulmonary edema
VSD medical management
diuretics
ACEIs
In what scenario is surgical closure of a ventricular septal defect contraindicated?
irreversible pulmonary htn
pathogenesis of beta-thalassemia major
impaired production of beta chains
excess of alpha chains
what thalassemia is usually fatal before birth
hemoglobin barts - 4 gamma globin chains
pathogenesis of alpha-thalassemias
defective alpha-globin production
excess beta globin chains
difference btwen HbA and Hb2
HbA = alpha + beta HbA2 = alpha + delta
types of alpha thalassemis
minima
minor
HbH disease
hydrops fetalis with Hb Barts
pathogenesis of beta thal minor
mild decrease in beta chain production
age which beta-thal major presents
after 6 months of life
anemia associated with beta thal
microcytic, hypochromic
management for beta thal major
hyperransfuation, iron chelation therapy
stem cell transplant
splenectomy, vitamins
target cells
b thal major
HbH disease
neonatal jaundice and anemia
HbH = 4 beta chains
What two cardiac anomalies must be present to support the initial survival of a patient with hypoplastic left heart syndrome?
PDA
ASD
What are the physical exam findings of hypoplastic left heart syndrome.
cyanosis
no murmur
What are the diagnostic features of hypoplastic left heart syndrome on echo?
small LV, abnormal left sided valves, hypoplastic ascending aorta
What is the typical symptomatic presentation of an infant with hypoplastic left heart syndrome.
cyanosis, resp distress
What are the two main elements of the INITIAL management of hypoplastic left heart syndrome?
prostaglandin to maintain PDA
if no ASH - transcather or surgical atrial septostomy
What are the later in life complications of treated hypoplastic left heart syndrome
thrombotic complications
neurodevelopmental impairment
decreased exercise tolerance
How does hypoplastic left heart syndrome progress if left untreated at birth?
heart failure, cardiogenic shock, death
What is the path that oxygenated blood takes through the circulation of an infant with untreated hypoplastic left heart syndrome.
lungs - pulmonary veins - LA - ASH - RA - RV - pulm arteries - PDA - aorta - body
inheritance of hypoplastic left heart syndrome
sporadic
What genetic syndromes has hypoplastic left heart syndrome been associated with?
trisomy 13,18
turners
jacobsen’s
hypoplastic left heart syndrome diagnosed prenatally
1/2 of time
infants with Chediak-Higashi present…
absence of skin pigmentation
What is the typical prognosis of Chediak-Higashi syndrome?
fatal in childhood
What follow-up diagnostic studies are required once the diagnosis of Noonan syndrome is made?
ECG, echo
How is Alagille syndrome managed?
maybe liver transplant
What is the therapy of choice for Chediak-Higashi syndrome?
bone marrow transfer
pulmonic valve issues or stenosis
noonan
How is common variable immunodeficiency diagnosed?
low ig levels
poor vaccine response
decreased cd4/cd8 ratio
What can result from recurrent pulmonary infections associated with common variable immunodeficiency?
bronchiectasis
Generally speaking, where do physical exam findings of common variable immunodeficiency manifest?
lungs
skin
autoimmune
What dermatologic manifestations are associated with common variable immunodeficiency?
alopecia
polyarteritis nodosa
alagille syndrome diagnosis
clinical
JAG1 or NOTCH2 mutations
symptoms of cyclic neutropenia
fever, pharyngitis, givngivitis, stomatitis, bacterial infections
CVID treatment
IVIG
When may splenectomy be associated with common variable immunodeficiency?
severe autoimmune thrombocytopenia or hemolytic anemia
What children with Langerhans cell histiocytosis require chemotherapy?
lesions involving orbit, mastoid, temporal bones
What is the “accelerated phase” of Chediak-Higashi syndrome?
lymphoma like infiltation of multiple organs
precipitated by viral infection like EBV
CVID=
AD disorder affecting B cells
low igs
Dubin-Johnson PE findings
HSM
treatments for Noonan syndrome
somtattropin
Noonan mutation
PTPN11, SHP-2 protein
cyclic neutropenia pathophys
disorder of bone marrow stem cells
arrest of myelocyte maturation
Chediak-Higashi pathophys
LYST or CHST1 gene
dysfunction of neutrophils
Dubin JOhnson syndrome abnormal transport
bilirubin-glucuronide transport across membrane separting hepatocyte from bile canaliculi
cyclic neutropenia treatment
recombinant G-CSF
Dubin-Johnson gene mutation
MRP2
Hand-Schüller-Christian triad
lytic bone lesions
exopthalamos
central DI
langerhans cell histiocytosis symptoms
lytic bone lesions skin lesions (cradle crap)
Chediak-Higashi syndrome diagnose
peripheral smear finding of giant granules in neutrophils, eosinophils, and granulocytes
cause of adult form of cylic neutropenia
cytotoxic cd56+ large granular lymphocytes
Alagille syndrome presentation
cholestaiss – jaundice
butterfly vertebrae
How is Langerhans cell histiocytosis diagnosed in children?
biopsy, cd1a staining
cyclic neutropenia diagnosis
neutropenia of
What clinical features besides skin rash and lytic bone lesions are associated with Letterer-Siwe Disease?
LAD, HSM, ANemia, thrombocytopenia
What laboratory feature is characteristic of Langerhans cells?
birbeck granules
What laboratory findings are associated with Alagille syndrome?
prolonged PT, PTT
HLD
elevated GGT, bilirubin
CVID autoimmue diseases
RA, vitilgo, hemolytic anemia
death in CVID
lymphoma
What results from the liver dysfunction of Dubin-Johnson syndrome?
chronic conjugated hyperbilirubinemia
What is the inheritance pattern of Alagille syndrome?
AD
What is the pathophysiology of Rotor syndrome?
reduced ability of liver to uptake bilirubin from blood
hallmark of PRader Willi during neonatal period
neonatal hypotonia
Noonan syndrome cardiac
dysplastic/stenotic pulmonic valve
HCM
ASD, VSD
The mutated genes in Alagille syndrome normally regulate what developmental processes?
3-dimensional intrahepatic biliary architecture.
Dubin-Johnson associated conditions
chronic hep b
hx of tubercular lymphadenitits
chronic cholestasis
CoronaryHD
treatment of fanconi anemia
G-CSF
androgens
hematopoietic cell transplantation
dubin johnson diagnosis
increase in ration or coproporphyin 1 to 2
dubin johnson treatment
no treatment
dubin johnson scintigraphy findings
extended period of liver visualization after dye injection
Chediak-Higashi Syndrome
AR
hypopigmentation
neutrophil dysfunction
cyclic neutropenia genetic mutation
elastase gene
