Glossary of Peds: Studyiing for the Shelf Exam

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Combined Immunodeficiencies
T-cell Deficiency
Di George sydnrome
Chronic mucocutaneous candidiasis
Humoral Deficiency
Bruton's agammaglobulinemia
IgA deficiency
Chrnoic granulomatous disease
Chediak-Higashi syndrome
Job syndrome
acute disseminated form of Langherhan's cell histiocytosis
Letterer-Siwe Disease
what are the sxs
skeleton involved, lymphadenoathy, HSM,
s/s: progressive cerebellar ataxia (first 6yrs), humoral and cellular immunodeficiency, oculocutaenous telangeictasisas, chronic sinopulmonary infection, increased risk of malignancy
thrombocytopenia, eczema, and increased susceptibility to infection (males-x-linked recessive)
Wiskott-Aldrich Syndrome (low IgM, increased IgA
resp tract infections, Urinary tract, infections and gi infections
selective IgA deficiency (IgA is major immunoglobulin in upper airway)
severe recurrent infections of skin and lymph nodes, osteomyeitis HSM
Chronic Granulomatous Disease (impaired neutrophils)
hypocomplimentemia in which renal diseases
lupus nephritis and PSGN, not in HSP or MCD
increased IgE with eosinophilia, recurrent Staph infxns, pruritic eczematoid dermatitis
Job Syndrome (neutrophil chemotactic defect)
GVH Disease (acute)
donor lymphocytes against host MHC antigens
abnormal LFTs->choleestatic hepatitis
diarrhea-> enteritis
GVH (chronic)
dry eyes and mouth --> Sjorgrne's syndroem
primary biliary cirrhosis

tx: corticosteroids, Abs to T cells
irritability may be a sign of what in a child with a prolonged fever (>7 days)
Irritability may be the only way that a young child can express pain or discomfort, including meningeal irritation, headache from intracranial irritation and simple exhaustion.
fever of more than 5 days, rash is a classic finding, particularly when combined with conjunctivitis and refusal to walk, due to painful, swollen feet
think about Kawasaki Disease
sandpaper rash
Scarlet Fever
caused by parvovirus B19. There is frequently an associated low-grade fever (100 to 101) with a rash appearing 7 to 10 days later. The characteristic rash starts as facial erythema -- the "slapped cheek" appearance. This can spread to the trunk
Erythema infectiosum - Also called fifth disease, t
After a prodrome of fever (over 101), cough, coryza, and conjunctivitis, this maculopapular rash starts on the neck, behind the ears, and along the hairline. It spreads downward, and reaches the feet in 2-3 days. Immunization is very effective in prevent
This macular or maculopapular rash starts on the trunk and spreads to the arms and neck. There is usually less involvement of the face and legs. The rash is preceded by 3-4 days of high fevers, which end as the rash appears. It is usually seen in childre
The rash starts on the trunk and spreads to the extremities and head. Each lesion progresses from an erythematous macule to papule to vesicle to pustule, and then crusts over. Lesions at various stages of development are seen in the same area of the body
strawberry tongue: erythematous tongue with prominent papillae
streptococcal pharyngitis and Kawasaki disease
DKA sxs (random glucose >200mg/dl
abdominal pain and vomiting, with no fevver, dehydration, altered mental status 2/2 electrolyte imbalances or dehydration, tachypnea,
(Na<130 mEq/dl)
Mild forms can be seen in viral gastroenteritis. More severe forms (sodium <120mg/dl) can be seen in free water or diluted formula replacement, or in adrenal insufficiency.
isotonic dehydration
(Na = 130-145 mEq/dl).
This is the most common type of dehydration in children, including children presenting with acute gastroenteritis and in DKA.
(Na>145 mEq/dl)
This is seen most commonly in breastfeeding failure, use of inappropriate rehydration solutions (boiled milk) and diabetes insipidus.
hyperglycemia and metabolic acidosis caused by elevated serum ketones and lactic acidosis, which then affect electrolytes and serum osmolarity
DKA is characterized by
some consequences of hypoglycemia
tachycardia, tremulousness, diaphoresis, confusion, irritability, hunger, lethargy, slurred speech, loss of consciousness, and seizures.
treatment of cerebral edema
If cerebral edema is suspected, it must be treated immediately. Treatment includes mannitol 0.25-1 mg/kg IV, decreasing the IV fluid rate, and elevating the head of the patient's bed.
207: idiopathic pulmonary hemosiderosis
A disease of unknown etiology characterized by recurrent hemorrhaging from pulmonary capillaries: hemoptysis. BAL would show hemosiderin laden macrophages
bronchoalveolar lavage
Bronchoalveolar lavage (BAL) is a medical procedure in which a bronchoscope is passed through the mouth into the lungs and fluid is squirted into a small part of the lung and then recollected for examination. BAL is typically performed to diagnose lung disease. In particular, BAL is commonly used to diagnose infections in people with immune system problems, pneumonia in people on ventilators, some types of lung cancer, and scarring of the lung (interstitial lung disease).
unilateral nasal discharge, obstruction, and fould smelling discharge, purulent, maldorou,sb.oody discharge
examine for a nasal foreign body
210. dangerous consequence of staph pneumonia
tension pneumothorax. tx by inserting a needle or cath into the 2nd or 3rd intercostal space in midclavicular line
bacterial tracheitis
severe adn life-threatening sequelae of viral laryngotracheobronchitis. days of viral URI -> acute elevation of temp --> resp ditress, biphasic stridor. tx: establishign an airway with intubation and IV antibiotics.
pus in middle meatus of the nose is draining from...
maxillary sinux, frontal, ro anterior ethmoid sinuses
tx of sinusitis
antibiotics for 10-14 days
inspiratory stridor
croup: extrathoracid airway collapses on inspiration
treatment of croup
supportive, but racemic epi and corticosteroids reduce length of time in ER and hospital
fever, cough and tachypnea in a child with Sickle Cell Anemia
manifestations of pneumonia, pulmonary thromboemboli, or sepsis. need to manage patient immediately.
triad of situs invertsus, chronic sinusitis and otitis media, and airway disease
Kartagener's syndorme: primary ciliary dyskineesia in 50% of pts
congenital cystoid adenomatous malformation
congential dysfunction of the development of the bronchioles
inclusion conjunctivits and afebrile pneumonia in the neonate, think..
chlamydia trachomatis (pneumonitis syndrome)
recurrent pneumonia in an otherwise heatly child...think
foreign body/anatomical blockade of airway
what happens to your acid/base system if you loose xs potassium (ex: from diuretics)
you have a metabolic alkalosis (K exits the cell, H goes into the cell). You can then get compensatory hypoventilation to increase PCO2
when assessing an acutely ill child, what are the three things you need to do first
ABCs: establish a patent airway, assess breathing and respiratory distress, assess that there has been no circulatroy compromise.
What is Cushing's triad?
hypertension, bradycardia and respiratory depression are signs of increased intracranial pressure, but will not occur until the patient is near the point of uncal herniation
Name 3 metabolic causes of increased ICP.
Metabolic causes of increased ICP include Reye's syndrome, liver failure, and electrolyte disturbances. These are diffuse encephalopathies and are unlikely to present with focal findings. Increased ICP can occur and can present with altered mental status and papilledema.
Would you expect to see papilledema with meningitis?
no, Meningitis usually presents with altered mental status (irritability, lethargy, coma), fever and signs of meningeal irritation. Focal findings are rare, as is papilledema. In fact, finding papilledema should prompt you to seriously consider other diagnoses.
The constellation of anemia, basophilic stippling and constipation in a child with radiodense material in the rectum points to the diagnosis of
lead intoxication. The presence of cerebral edema and seizures raises the diagnosis to acute lead poisoning.
What is Zellwegger Syndrome?
rare AR condition causign progressive degeneration of liver and kidneys. Usuallyfatal in 6-12 months. GENERALIZED HYPOTONIA, imparied neurologic function
Upslanting palpebral fissures, small ears, a flattened midface, epicanthal folds, hypotonia and redundant nuchal skin are common features of infants with
Down syndrome
lab diagnosis for Down's Syndrome
Lymphocyte Karyotype
what endocrine abnormality are down's syndrome babies at risk for
lymphedema in utero, which is the cause of many of the physical findings such as the webbed neck, low placement of ears, edema of the hands and feet, hyperconvex nails and a "shield" chest with widely spaced nipples. Coarctation of the aorta is
Turner's Syndrome
Clinical features include microphthalmia, microcephaly and severe mental retardation, polydactyly, cleft lip and palate, cardiac and renal defects, umbilical hernias, and cutis aplasia.
Patau's (Trisomy 13)
Clinical features include severe mental retardation, prominent occiput, micrognathia, low-set ears, short neck, overlapping fingers, heart defects, renal malformations, limited hip abduction, and rocker-bottom feet.
Edward's (Trisomy 18)
What is the dif between a holosystolic murmur and an ejection murmur
A "holosystolic" murmur is S1 coincident, meaning that the murmur starts with S1, not after it. An ejection murmur is also systolic but does not start until after S1 because there is a delay from S1 to the onset of ejection - the isovolumic contraction time.
What is a holosystolic murmur associated with?
A VSD, mitral insufficiency and tricuspid insufficiency.A VSD causes a holosystolic murmur because flow through the VSD starts with the onset of ventricular contraction.
What is an ejection murmur associated with?
Ejection murmurs occur with aortic and pulmonic valve stenosis.
differential of hepatomegaly in an infant
The differential of hepatomegaly in an infant includes congestive heart failure, congenital infections, inborn errors of metabolism, anemias, and less commonly tumors.
Still's murmur
Innocent murmur: This is often described as musical or vibratory, and is heard best at the left lower sternal border in the supine position.
widely split, fixed S2 in a child aged 3-5 years
pathognomonic physical finding of an atrial septal defect.The systolic murmur is due to increased flow across a normal pulmonic valve.
when does coarctation of the aorta present?
infancy or at any age beyond because it tends to be a progressive problem, gradually getting more severe over a number of years. Coarctation presents with a murmur, hypertension in the upper extremities, and a discrepancy between the upper and lower extremity blood pressures.
what congenital heart defects typically present in infancy?
Ventricular septal defects, aortic and pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot
There is a prominent systolic ejection click just after S1, and a harsh systolic ejection murmur.
pulmonic stenosis
vibratory and low pitched, and is heard best at the left lower sternal border. The vibratory quality is the most characteristic feature of an innocent murmur.
innocent murmur
Which congenital heart defects can present with CHF in the newborn?
VSD, Aortic Stenosis, coarctation of the aorta, large PDA
pathophysiology behind CHF in children 2/2 a VSD
The infant with a VSD is supplying enough blood to the tissues to meet the body's metabolic needs, but is doing it from an elevated filling pressure (due to the left ventricular volume overload). The adequate cardiac output is achieved by creating a high adrenergic state and by activating the renin-angiotensin system. Many of the symptoms of CHF in the infant are caused by these neurohormonal changes.
why are VSD typically not heard at birth, but wks later
Newborns have elevated pulmonary vascular resistance. Since the systemic and pulmonary vascular resistances (PVR) are nearly equal, there is no reason for blood to shunt through the VSD. Classic teaching is that VSD murmurs are not heard in the nursery, and that was the case for Tyler. The murmur of a VSD will appear when the PVR drops, usually at a few days to weeks of age.
treatment of CHF 2/2 a VSD in an infant
Digoxin and diuretics
What is Eisenmenger's syndrome?
The pulmonary vasculature constricts in response to exposure to high pressure and high flow. With chronic exposure to these conditions the pulmonary vasculature will develop permanent changes and loses the ability to relax, even if the VSD is closed. This causes the pulmonary vascular resistance to exceed the systemic resistance, and shunting through the VSD will shift to right to left. The patient will then develop cyanosis, progressing to polycythemia, heart failure and death. Most patients with Eisenmenger's disease will live into their twenties, but with a very impaired quality of life.

Patients with a large unrepaired VSD will universally develop Eisenmenger's disease. In general this will not occur before 2 years of age, but VSD closure is now recommended at earlier ages to completely prevent development of Eisenmenger's disease.
fever + petechial rash
think meningococcemia
5 cyanotic heart diseases
1. Truncus Arteriosus
2. Transposition of the Great Vessels
3. Tricuspid Atresia
4. Tetralogy of Fallot
5. Total Anomalous Pulmonary Venous Return
Signs and Sxs of Kawasaki's Disease

Strawberry Tongue
Hand and Feet Edema/Swelling

Burn: Fever x 5days
tx: high dose ASA and IVIG within 10days
fever and petechiae on palms and soles of feet
fever and sandpaper/sun-burn type rash
Toxic Shock Syndrome
treatment of undescended testes if not palpated in the inguinal canal
orchiopexy after 12 months of age
treatment of undescended testes if palpated in the inguinal canal
hormonal therapy with LH-releasing hormone is controversial, but practiced?
gynecoogical tumor assoc with elevated beta-HCG
seminoma/dysgerminoma. most common gemr cell tumor. tx: radiation
what type of ulcers do chancroids and herpes cause
what type of ulcers do lymphogranuloma venereum (LGV) and syphilis cause?
PID treatment
Doxycycline for 2 wks.
Chlamydia treatment
Zithromax or Coxy, Erythromycin, Levofloxacinor ofloxacing for 7 days
Dx of HSV
Tzanck smear, tx: acyclovir
Dx of syphillis and tx
T. pallidum on dark-field microscopy and penicllin
Dx of chancroid and tx
Gram stain reveals gram-positive cocci arranged in boxcar formation. Tx: Azithromycin
Dx and Tx of Lymphogranuloma Venereum
Elevated Ab titers on complement fixation and microimmunofluorescence tests.
tx; Azithromycin
when someone is suspected to have Ghonorrhea, what should you do?
treat for BOTH gonorrhea and chlamydia
microcytic anemia, increased RDW, decreased ferritin, decreased TIBC
Fe deficiency anemia
variation in SHAPE of RBCs
variation in SIZE of RBCs
most common causes of hypochromic microcytic anemia
Fe deficiency, Anemia of Chronic Disease and Thalassemia Syndromes
4 sickle cell crises
vaso-occlusive, aplastic (parvovirus), sequestration, hemolytic
increased osmotic fragility, increased retic count, Positive family hx, and splenomegaly.
Hereditary spherocytosis (negative coombs)
Fever, anemia, thrombocytopenia, renal dyfunction, and neurologic abnormalitity
child with epistaxis, prolonged bleeding time, and nml platelet count
von Willebrand's Disease
what is the most common cause of amblyopia
watery, itchy red eyes with edema to the conjunctiva and lids,
allergic conjnctivitis: IgE medisated rxn 2/2 trigtgers like pollen or dust
conjunctivitis with lymph nodes
viral etiology: watery, red eyes with preauricular lymph nodes
most common cuases of viral conjunctivitis
adenovirus and coxsackievir
mucopurulent dishcage, red eyes, adn edema of the conjunctiva
bacterial: H. influenza and S. pneuminae are typical
what is dacryostenosis
congential nasolacrimal duct obstrution: see chronic tearing (overflowing), erythema 2/2 rubbing
4 mo old child with an exudative eye discharge and a painful, red lacrimal sac
sxs of orbital cellulitis
inflammation ofthe orgbital tissuesBEHIND the septum: PAINFUL extraocular motion, proptosis, decreased vision, erythema, eddema: IV Abx b/c EMERGENCY
sxs of periorbital cellulitis
infl of eyeleids and periorbital tissue ANTERIOR to the septum: erythema, edema, NO PAIN with extraocular mvmts. tx: ceftriaxone
most common organisms causing periorbital and orbital cellulitis
SHIP: S. aureus, H. influenza, S. pneumoniae
Leukocira (white pupilary reflext), strabismus, orbital inflammation, hyphema (blood layering anterior to the iris)
Retinoblastoma: most common orbital primary malignant tumor in children
2 common comp of otitis media
overall: hearing loss, intracranial: meningitis
"swimmer's ear": ear painw ith mvmt of pinna, pruritis, edema of ear canal, palpable lymph nodes
otitis externa: most common is P. aeruginosa
Meniere's triad
vertigo, tinnitus, and hearing loss
What two diuretics asre ototoxic
FUROSEMIDE and ethacrynic acid
Which Abx are ototoxic?
AMINOGLYCOSIDES, Gentamicin, erythromycin, Minocycline, Quinolones
Which Chemotherapeutics are ototoxic?
Cisplatin, Vinblastine
Ototoxic Antimalarials?
quinine, chlororquine, mefloquine
Ototoxic Antiarrhythmiccs
Ototoxic Salicylates
Paraneoplastic syndrome of Nasopharyngeal Carcinoma
Clubbing, fever, SIADH
endocrine disorder assoc with HLA-DR3 and DR-4
Type I DM
insulin increaseed, normal or decreased, but insulin resistance
Type II DM
hyperglycemia >300mg/dL, acidosis pH<7.30, Bicarbonate < 15 mEq/L
DKA: medical emergency b/c can progess to coma and death
sxs of DKA
polyuria, polydipsia, fatigue, HA, nausea, vomiting, tachycardia, ari hunger
most severe complication of DKA management
cerebral edema: if glucose levels fall too quickly. Insulin should be given 0.1U/kg/hr.
which DM has a greater family hx
Type II DM
Traid of hemochromatosis. what can cause hemochromatosis. labs?
hemocrhomatosis: increase storage of iron in the form of hemosiderin
triad: cirrhosis, bronzing of skin, DM
cuases: hereditary, neonatal, transfusion induced. Lab: increased ferritin adn transferrin
tx of hemochromatosis
chleation with desferoxamine
3 y/o boy that is unconscious, flushed face, pulse of 160, RR of 16, BP of 40/20. recalt temp of 36.2. unusual odor on his breath. he ahs a GTC seizure
DKA and check serum glucose
triad of hyperthyroidism with diffuse goiter, opthalmopahthy, dermopathy, gradual onset: 6-12 mo
Juvenile Graves' Disease
medical tx of hyperthyroidism
Propylthiouracil 5-10 mg/kg/day q8h PO and Propranolol 0.5-1 mg/kg/day PO, thyroidectomy
acquired hypothyroidism
Hashimoto's thyroidits is most common cause. see growth deceleration. tx: l-thyroxine 10 micrograms/kg/day
voracious appetite (c or s weight gain or loss, heat intolerance, emotionla labiity, restlessness, sx sweating, stools, poor sleep. declining school performance, flushed and fidgety, and warm
hyperthyroidism: Grave's Disease most comon.
Acute onsetn of hyperthermia, seere tachycardia leadin to cardiogenic shock, CNS manifestations, diaphroesis, N/V
throid storm which may be life threatening.
clinical manifestations of hypercalcemia should clue you into what endocrine abnormality: muscle weakness, anoreixa, N/V/C, polydipsia, polyuria, weight loss, fever
hyperparathyroidism: PTH causes an increase in Ca, decrease in P.
can be primary or 2/2 chronic renal failure, liver disease, or vitamin D deficiency
combination of hyponatermia and hyperkalemia clue you into what congenital problem
congenital adrenal hyperplasia: most commonly caused by 21-hyrdoxylase deficiency. can have severe salt wasting due to decreased aldosterone and cortisol. Females have ambiguosu genitalia.
urgent tests with suspected congential adrenal hyperplasia
1. serum glucose
2. serum electrolytes
(others: cortisol, testosterone, 17-OH progesterone)
Addison's Disease
Primary Adrenal Insufficiency, destruction of adrenal cortex: autoimmune, TB
sxs: weakness, nausea, vomiting, weight loss, HA, emotional lability, salt craving. physical : postural hypotension, hyperpigmentation
Addison's Disease (primary adrenal insufficiency).
increase in epinephrine and norepi, wkth HA, palpitations, diaphoresis, abdominal pain and flushing
pheochromocytoma of the adrenal medulla. if only norepi is high, then think of extra-adrenal tumor
what endocrine abnormality can cause pubertal delay
hypopituitarism (decrease in LH and FSH)
what endocrine abnormality can cause hypoglycemi and micropenis in a neonate
hypopituitarism (decreased ACTH and GH)
what endocrine abnormality can cause poor linear growth and hypoglycemia
GH deficiency
how do cortisol and GH regulate insulin
GH decreses insulin and Cortisol increses insulin?
etiology of gigantism, rapid linear growth, caors facial features, nelarging hadns and feet
Pituitary adenoma causing increased GH
normal female pubertal progression
thelarche -> height growth spurt -> pubic hair -> menarche (13 y/o)
normal male pubertal progression
testicular enlargemetn -> penile enlargement -> height groth spur (14 y/o) -> pubic hairmm
Kallman Syndrome
X-linked hypogonadotropic hypogonadism affecting males sand females, associated with anosmia, cleft lip/palate, and other midline defects
primary amenorrhea: definition and most common cause
no menstural flow by age 16. most common cause is Tuner's Syndrome
primary amenorrhea in an unambiguous female. Presence of testes in inguinal hernia
Testicular feminization: androgen insensitivity syndrome. XY males with testess appears as unambiguous female
normal testes (both gonads are testes) but undervirilization of external genitalia
Male pseudohermaphroditism 2/2 androgen insensitivty or enzyme defects int estosterone syntheiss.
pink macules and papules, initially on face adn spred inferiorly within 24 hrs
Rubella (German Measles)
eriythematrous macules and papules initialy along hairline, spreading inferiorly w/in 2-3 daiys, fade in 4-6 d with desquamation. hint: bluish-white papules on erythematous base appear on day 1-2 of fever, over buccal mucosa, adjacent to second molars
Koplik's spots with Measles (rubeola)
stomatitis (vesicles rapidly opne to painful ulcers). Gray blisters on hands and feet on background erythema
Hand-foot-mouth disease (Coxsackie A virus)
2-6 mm blanchable macules that first appear peripherally on wrists,forearms,k ankles, palms and soles. spreads to trunk proiximal extremitie adn face w/in 6-18 hours. evolve to deep red papules adn petechiae over 1-3 days. W/in 2-4 daiys, exanthem is no
RMSF (Rickettsia rickettsii)
"slapped cheks"-red papules coalesce on face. retiulate rash on buttocks and upper arms taht spreads. Palmos and soles may be involved. mucous membranes may have red spots
Fifth disease (eriythema infectiousum ) (parvovirus B19)
discrete, pink macules, papules, and petechiae over trunk, extremities, adn palate
meningococemia (n. meningitidis)
erythematous macules over arms and legs evolve itno hemorrhagic, painful pustules w/in 2-3 days
Gonococcemia (n. gonorrhea)
painless "button-lke" chancre with indurated borders
Primary Syphilis
multipel, dscrete, firm "ham-colored" papules scattered symmetrically over trunk, palms, soles, adn genitals; condyloma lata-soft lfat topped pink papules in anogenital region
secondary syphillis
erythema chronicum migrans-expanidng, erytheatous, annular plaque with central clearing
Lyme Disease (Borrelia burdorferi)
erythematous macules and plaques appear in stocking and glove distribution 1-3 days after onset of fever. Spreads to involve trunk and extremieits w/in 2 daiys, lasts an average of 12 days
Kawasaki's disease
raised patches on lower back with orange-peel texture.
Tuberous sclerosis and Shagreen patches
red, vascular noduels on face that may resemble aggravated acne
Tuberous sclerosis and Adenoma sebaceum
hemangioma variant; appears as sharply marginated, red or purple macule, commonly distruibuted unilarterally on face; presenta t birth adn never disapperas; lesion grows propritonallt o siz eof person, may develop pappula ran dnodular areas
Sturge-Weber syndrome adn port-wine stain
janeway lesion asn osler's nodes
Janeway Lesions: multiple, hemorrhagic, nontender macules on fingers and toes. Osler's nodes: tender, violaceous subcutaneous nodules on palms and soles.
palpable purpura (small vessel damage), arthritis, and abdominal pain.
what's the problem with accutane (oral isotretinooin)
threadlike burrows in the interdigital areas, growin, elbows, ankles
think scabies
signs and sxs of scabies
pruritis, 1-2mm red papules, some with excoritaitos, crustina gn scalin. tx with lindane or permethrin in infants
umbilicated (dome-shaped), skin-colored or pearly-white papules. what is tx
think molluscum contagiosum. it is ia self-liited, contagious, vrial infection transmitted by direct contact. it is caused by a poxvirus. tx: curettage, cryosurgery, sometimes observation
what causes scarlet fever
what is scarlet fever?
toxin-mediatd dz with sore throat, high fever, and mucous membrane eirythema. "strawberry tongue"
linear petechiae evident in body folds after strep infectoin
pastia's sign of scarlet fever
what can SJS progress to
how do you differentiate psoriasis from Reiter's syndrome witha psoriatic rash
Reiter's syndrome will inolve the mucous membranes, Psoriasis does not.
digitalis toxicity in infants
major criteria in rheumatic fever
carditis, arthritis, erythema marginatu, chorea, and subcutaneous nodules (joints, carditis, nodules, erythem, sydenham's chorea)
minor for RF
arthalgias, fever or hx of RF, increased ESr, Pos CRP, increase WBC and anemai, prolonged PR and QT on ECg. most common finding is arthralgias
hereditary angioedema
AD pattern , defect in complement -> increased kinin and edema in skin, sometimes throat and gi
ellis0van creveld syndrome assoc with what congenital heart defect
atrial septal defects
supraventricular tachycardia and tx
rapid heart rate, little variability in rate, and P wave before eveiry QRS. Tx by stimulating the vagus nerver b/c increased SVT can lead to hydrops fetalis.
a pulse greater than 250 should clue you into
chf from any cause can cause what
cyanosis, pallor, dyspnea, tachypnea, tachycardia, and cardimegaly
Ebstein's anomaly
Downward displacemnt of the tricuspid valve. confirmed by RV hypertrophy and RV conduction defects.
spindle shaped swelling of finger joints. systemic sxs: constituaionl dz, rheuamtoid rash, high spiking fevrs. diffuse rash
left axis deviation and hypertrophy of the LV can happen in what cyanotic heart defect
Tricuspid Atresia can cause a hypoplastic RV leading to left axis deviation. the rest cause right axis deviation
egg on a string, early cyanosis, normal sized heart,
transposition of the great vessels
marfan syndrome eye finding
subluxatin of the ocular lens (ectopia lentis) also dilatation of aroticc root and ascendign aorta, aorti caneurysm, xs height for age, long and thi extremities
Williams syndrome
supraventricular aortic stenosis mostly, also hypercalcemia in infancy, MR, and prominent thick lips, long philthrum, short stature, cog impairments
long QT
can cuase syncopal episodses in late childhood and adolescnce. arrhythmias may be noted, like v.fib.
complication of neonatal lupus
thrombocytopenia, neutropenia, rash, liver dysfunction, and congenital heart block
CHF presentation in an infant
weak, diaphoretic, poor weight gain, tacypnea w/ retractions. lungs: cracckles, wheezes.
nocturnal abdomainal pain adn gi bleeding with pos fam hx, discomfort, vomiting, anorexia, weight loss, hematemeis or melena
peptic ulcer disease. pain is most common
painless intermittent rectal bleeding in early childhood
Mecke's diverticulum. dx by meckel's scan
1st week of life with billous vomiting, adn/or intermittent abdominal pain. acute presntation caused by volvulus of hte intestines.
malrotation with volvulus (films show a dilated stomach adn proximal loops of bowel and "curl Q" twist on upper GI when barium through malrotated intestines. Billous vomiting 2/2 obstruction.
4 wk old with nonbillous vomiting for 10 days
pyloric stenosis. often see metabolic alkalosis with low K and Chloride.
RUQ pain with fever, vomiting, nausea,k adn jaundice....
acute cholecystitis. confirm with u/s of gallbladder. may happen in child with SCD
infant btween 4-10 months with sudden onset of intermittent colicky abd pain. passage of stool with blood and mucus, like current jell. Contrast enaema exam can be benefitical and diagnositc
protein requirement to prevent kwashiokor
8% of diet
Hemolytic Anemia
"Remember to decrease the RATE of IV fluids in these patients":
Renal failure
Anemia (microangiopathic, hemolytic)
Encephalopathy (TTP)
Pyloric Stenosis
Pyloric stenosis is 3 P's:
Palpable mass
Paristalsis visible
Projectile vomiting (2-4 weeks after birth)
what happens with XS Vitamin A, E and K
Excess vitamin A: Anomalies (teratogenic)
Excess vitamin E: Enterocolitis (necrotizing enterocolitis)
Excess vitamin K: Kernicterus (hemolysis)
Beckwith-Wideman Syndrome
Macroglossia/ Macrosomia

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