Step 2 Peds.txt

• Spiral Fxrs
• bucket fxrs
• post. rib fxrs

• phenytoin
• alcohol
• lithium
• thalidomide

• ASD
• VSD
• PDA

• RtLft shunt
• "12345"

• Truncus arterioss
• Transposition of great vessels
• Tricuspid atresia
• Tetralogy of fallot
• Total Anomalous Pulmonay Venus Return

VSD

• Apert's Syndrome
• cranial deformity
• fusion of fingers/toes

• Down's
• Fetal Alcohol Syndrome
• TORCHES
• Cri du Chat
• Trisomies 13, 18

• harsh holosystolic murmer
• L sternal border

Dx with Echo

• CXR: poss LVH w/ small defects
• LVH+RVH w/ larger defects
• pulm vascular markings

small defects close spontaneously

• Surgery if:
• pts fail medical management
• pts <1yo + pulm HTN
• older kids w/ large VSD that hasnt shrunk

• Holt-Oram Syndrome
• absent radii
• ASD
• 1st deg heart block

• FAS
• Downs

• 1: si/sx in early childhood
• 2: si/sx in late chldhood, or early adulthood

2 is most common

• RT ventricular heave
• Systolic Ejection murmur
• Upper Left Sternal border
• **Wide and Fixed, Split S₂**

may also have mid-diastolic rumble at left lower sternal border

• Echo: shows blood flow btwn atria
• EKG: R axis deviation and RVH, PR prolongation is common
• CXR: cardiomegaly  pulm vascular markings

most are small and resolve spontaneously

• Surgery:
• infants w/ CHF
• >2:1 pulmonary to systemic blood flow

• L-to-R shunt --> Pulm HTN
• Pulm HTN--> shunt reversal

• 1st trimester Rubella infxn
• prematurity
• female

• Usually no symptoms
• Large defects:
• FTT
• recurrent lower RI's
• Lower extremity clubbing
• CHF

• Wide Pulse Pressure
• continuous "machinary murmur"
• 2nd L IC space at sternal border
• loud S2
• bounding Periph pulses

Dx: Color flow doppler

• EKG: poss LVH
• CXR: poss cardiomegaly w/ large lesions

• Tx: Indomethacin
• CI: cyanotic heard dz

• Tricuspid Valve displacement into Right Vent
• **associated with mom taking LITHIUM**

child >6-8 yo and indomethacin fails

• Bicuspid aortic valve (2/3 of patients)
• Turner's
• Berry Aneurysms
• males

• SBP upper extremities > lower
• Different BP in L and R arm
• **Differential Cyanosis
• Weak femoral pulses
• Childhood HTN
• LE claudication
• syncope
• epistaxis
• HA

• short systolic murmur
• in left axilla
• forceful apical impulse

• Dx with Echo and color flow doppler
• CXR: cardiomegaly and pulm congestion
• ECG: "3" sign d/t pre/post ductal dilation, rib notching

• Severe coarctation needs PDA kept open with...
• PGE₁
• Surgery or balloon angioplasty
• Monitor for:
• restenosis
• aneurysm
• aortic dissection

Transposition GV (per 1st Aid)

• Tachypnea
• progressive hypoxemia
• extreme cyanosis
• Poss signs of CHF
• Single loud S2

• Dx: Echo
• CXR: narrow base heart, no main pulm artery segment
• "egg-shaped "
• pulm vascular markings

• IV PGE₁ to keep PDA open
• Balloon atrial septostomy to creat/enlarge ASD if PGE₁ fails

• "PROV"
• Pulmonary stenosis
• RVH (R vent. outflow obstruction)
• Overriding arota
• VSE

**MC cyanotic congenital heard dz in children**

• No cyanosis at birth
• develops over 1st 2 yrs
• degree of cyanosis reflects extent of pulm stenosis

• Infants often no si/sx 'til 4-6 mos
• 4-6 mos when CHF poss and manifests as sweating w/ feeding or tachypnea
• Hypoxemia may FTT
• "Tet spells"

• Murmur: syst. ejection @ L upper sternal border
• R vent heave, single S2

• CXR: boot shaped heart, v pulm vasc markings
• EKG: R-axis dev and RVH

• if severe pulm stenosis: immediate PGE1
• tet spells:
• Morphine
• O2
• Phenylephrine
• propanolol
• squatting
• "tx tet spills w/ MOPPS"

MR, flat facial profile, Prominent epicanthal folds, simian crease

• Assoc: maternal age, duodenal atresia, Hirschsprung's,
• endocardial cushion (ASD, VSD, Mitral/Triscuspid valve abnormalities)

Malignancy: ALL

Other: hypothyroidism, early Alzheimer's

• Trisomy 18
• Rocker-bottom feet
• Micrognathia
• prominent occiput
• May have horse-shoe kidney

Death usually w/in 1yr of birth

• Patau's Syndrome:
• Severe MR
• micropththalmia
• microcephaly
• cleft lip/palate
• scalp lesions
• polydactyly
• Congenital Heart Dz

• 45, XXY
• + inactivated X chromo (Barr body)
• MCC of hypogonadism in males

• PE:
• testicular atrophy
• eunuchoid body, tall
• long extremities
• gynecomastia

testosterone

• 45, XO no barr body
• MCC of 1 anenorrhea d/t gonadal dysgenesis

• Features:
• Short stature
• Shield chest, wide spaced nipples
• webbed neck
• coarctation of aorta
• +/- bicuspid AV
• poss lymphedema of hands/feet in neonates
• horseshoe kidney

• Double Y males
• ^ freq among inmates
• Tall w/ bad acne
• Antisocial behavior

• hydroxylase or
• tetrahydrobipterin cofactor

• Features:
• MR
• fair skin, blond, blue eyes
• eczema
• mousy/musty urine

Guthrie Test

• change diet by:
• dec phenylalanine
• inc tyrosine

• X-linked defect:
• affects methylation and expression of FMR1 gene
• *a triplet repeat disorder, may show anticipation

• Features:
• MR
• big nuts
• long face/large jaw
• large everted ears
• autism

AR

• mutations in CFTR (chloride channel)
• Chromosome 7
• widespread exocrine gland dysfxn

50% pts present w FTT or chronic pulm dz

• recurrent pulm infxns (esp w/ Psuedo and S. areus)
• cyanosis
• digital clubbing
• cough, dyspnea, bronchiectasis, hemoptysis
• chronic sinusitis
• rhonchi, rales
• hyperresonance percussion
• nasal polyposis

15% w/ meconium ileus

greasy stools/farts

• pancreatitis
• rectal prolapse
• biliary cirrhosis, jaundice
• esophageal varices
• ADEK vit deficiency

• Sweat Chloride test:
• >60mEq/L for pts <20 yo
• >80 in adults

DNA probe test

• Pulm Tx: chest PT, bronchodilators, steroids, Abx, DNase
• GI Tx: pancreatic enzymes, ADEK vits
• Lung/Pancreas transplants

• XR
• def of alpha-galactosidase A
• build up of ceramide trihexoside in heart, brain, kidneys

Renal Failure, ^ risk of stroke, MI

• AR
• galactosylceramidase deficiency
• galactocerebroside in brain

Optic atrophy, spasticity, early death

• AR
• def of glucocerebrosidase
• Build up of clucocerebroside in brain, liver, spleen, marrow
• Marrow has 'gaucher cells' w/ "crinkled paper" enlarged cytoplasm

Hepatosplenomegaly, anemia, thrombocytopenia

• AR
• def of sphingomyelinase
• build up of sphingomyelin in reticuloendothelial and parenchymal cells/tissues

pts w/ Type A die by 3yrs of age

• no hexosaminidase
• build up of GM2 ganglioside

• Babies initially normal, 3-6 mos weakness begins, development slow/regresses
• ^startle response, death by 3yrs
• Cherry-red macula

• AR
• def. of arylsulfatase A
• build up of sulfatide in brain, liver, kidney, periph nerves

• AR
• def of alph-L-iduronidase

Corneal clouding, MR, gargoyl facies

• XR
• def ofiduronate sulfatase

• Mild form of Hurler's
• no corneal clouding, mild MR

• MCC of bowel obst. in first 2 yrs of life
• Triad: abd pain, vomiting, blood PR

• Sudden onset, colicky abd pain
• w/ flexed knees and vomiting
• late signs: currant jelly stools
• "sausage" RUQ mass

US may show "target sign"

• Air-Contrast Barium enema, both diagnostic and therapeutic
• Surgery if enema doesn't work, or +peritoneal signs

• sphincter hypertrophy --> obstruction
• Nonbilious emesis ~3wks old and progresses to projectile

babies eat well at first, then malnutritioned

palpable olive-shaped, mobile, nontender epigstric mass

visible gastric peristaltic waves

hypochloremic, hypokalemic metabolic alkalosis

d/t emesis of HCl

Abd US (imaging of choice): shows hypertrophic pylorus

Barium studies: narrow pyloric channel= "string sing", or pyloric beak

• Tx: correct dehydration, acid/base, 'lytes
• surgery: pyloromyotomy

failure of omphalomesenteric or vitelline duct to obliterate

MC congenital abnormality of small intestine

• Usually asymptomatic
• Classically painless rectal bleeding
• Abd pain=possible complication:
• 'ticulitis, vovulus, intussusception

• MC in kids <2
• 2x more common in males
• has 2 types of tissue (pancreatic and gastric)
• 2 in. long
• W/in 2 ft of ileocecl valve
• occurs in 2% of population

• Scintigraphy scan: Technetium 99m pertechnetate
• Plain films: limited value, may dx obst. or perf

• Tx:
• active bleeding- excision
• asymptomatic- poss excision

• no ganlion cells in distal colon
• ncoordinated peristalsis and dec mobility

• Assoc:
• males
• down's
• Waardenburg's
• MEN 2

• neonate failure to pass meconium w/in 48hrs of birth
• +bilious vomiting, +FTT

Kids w/ less severe lesions have chronic constipation

• Dx: barium enema=study of choice, shows narrow distal colon w/ prox dilation
• anorectal manometry detects failure of rectal relaxation
• Full-thickness biopsy confirms Dx

Tx: Sx 1)diverting colostomy 2)connecting colon to rectum

• congenital malrotation of midgut
• abnorm. positioning of small intestine
• (cecum in R hypochondrium)
• formation of fibrous bands (Ladd's bands) --> obstruction and constricted blood flow

newborn w/ bilious emesis, crampy abd pain, distention, blood or mucus in stool

• AXR: may show no intestinal gas, may be norm
• Upper GI: study of choice, shows abnormal location of Treitz

Tx: NG tube, IVF, Sx repair (emergent when volvulus present)

• partial bowel necrosis
• MC GI emergency in neonates
• Common in premies, but also in fullterm

• first: feeding intolerance, delayed gastric emptying, abd distention, bloody stools
• then: perf, peritonitis, abd erythema, shock

• Nonspecific labs:
• hypoNa, metab. acidosis
• leuko penia/cytosis w/ L shift
• Thrombocytopenia
• Coagulopathy

• Abd plain films: pneumatosis intestinalis (pathognomonic), poss dilated bowel loops, portal venous gas, free air
• serial fims q 6hrs

• Tx:NPO, Orogastric Tube, IVF & 'lytes, TPN, Abx
• Surgery: ileostomy w/ mucus fistula for perf, or worsening films

• Bruton's
• CVID
• IgA Deficiency

• X-linked agammaglobulinemia
• boys only

• ^^infxns w/ encapsulated bact:
• Pseudomonas
• H. Influ
• S. Pneumo

show up ~6mos when mom Ab's wear off

• Quant Ig levels
• if low quant levels, confirm B- and T- cell subsets
• (so B's will be absent, T's high)

Absent tonsils and other lymphoid tissue

Tx: prophylactic Abx, IVIG

• Usu a combo of B- and T- cell defect
• Ig levels in the 20s/30s

• ^pyogenic U/L resp infxns
• ^risk of lymphoma and autoimmune dz

• Dx: Quant Ig levels, confirm w/ B/T subsets
• Tx: IVIG

• mild, MC immunodeficiency
• usually asymptomatic

poss recurrent pulm/GI infxns

• Dx: Quant IgA levels
• Tx: treat infxns
• *don't give Ig's can lead to Anti-IgA Ab's and eventual anaphylactic shock*

Thymic aplasia

• CATCH 22:
• Cardiac abnormalities
• Abnormal facies
• Thymic Aplasia
• Cleft palate
• Hypocalcemia
• 22q11 deletion

• Tetany (d/t hypoCa⁺⁺) in newborns
• infxn with fungi and PJP

• Dx: absolute lymphocyte count, mitogen stimulation test, delayed hypersensitivity skin test
• Tx: bone marrow transplant + IVIG, PJP prophylaxis
• Thymus transplant is alternative

• Oculocutaneous telangiectasias
• progressive cerebellar ataxia
• DNA repair defect

^NH lymphoma, leukemia, and gastric CA

No specific Tx, poss IVIG if severe Ig deficiency

Severe lack of B & T cells

severe, freq bact. infxns, chronic candidiasis and opportunistic organisms

Tx: bone marrow or stem cell transplant, IVIG, PJP prophylaxis

• X-linked
• less severe B/T dysfxn

• Classic si/sx: bleeding, eczema, freq OM
• also ^IgE/IgA and dec IgM

• Inc risk of atopic disorders, lymphoma/leukemia
• Infxn w/ S. pneumo, S. aureus, H. influ B

• Tx:supportive, IVIG & Abx
• Pt's w/ bad infxn may get marrow trnsplnt

• X-linked (2/3)
• AR (1/3)

jacked superoxide production by PMN and macrophages

• Chronic skin, pulm, GI, GU infxns; osteomyelitis, hepatitis
• organisms are catalase +
• ^risk of Aspergillus infxn

may have granulomas of skin, GI/GU tracts

Nitroblue tetrazolium

• Tx: daily TMP-SMX
• INF gamma can dec serious infxn
• Bone marrow trnsplnt and gene therapy are new options

defective chemotaxis of WBCs

• recurrent skin, pulm, mucosal infxns
• may present with omphalitis w delayed separation of umbilical cord

• No pus w/ minimal inflammation in wounds
• High WBC's in blood

Tx: Bone Marrow transplant is curative!!

• AR
• defect in neutrophil chemotaxis & microtubule polymerization

Triad: Oculocutaneous albinism, neuropathy, neutropenia

• Inc in bad infxns w/ S. aureus, S. Pneumo, Pseudomonas
• Dx: giant granules in neutrophils
• Tx: BM transplant TOC

• AD
• aka: C1 esterase def

• episodes of angioedema for 2-72hrs, d/t stress or trauma
• **poss life-threatening airway edema

• Dx: Tot hemolytic complement to assess quant/fxn of complement
• Tx: purified C1 and FFP b4 Sx

• (C5-C9 def)
• Can't form MAC

• Si/Sx: recurrent meningococcal or gonococcal infxns
• rarely lupus or GN

Tx: Menactra Vacc & appropriate Abx

• B-cell def are most common 50%
• onset after 6 mos

• recurrent sinopulm, GI, GU infxns
• with encapsulated bact:
• H.influ, S. pneum, N. Meningitidis

Tx: IVIG (**except IgA Def)

present earlier 1-3 mos

• opportunistic
• low grade fungal
• viral
• intracellular bact infxn (mycobact)

• mucus membrane infxns
• absesses
• poor wound healing

• Infxn w/ catalse + organisms (staph)
• fungi, and G- enteric organisms

• kids / congnital asplenia
• splenic dysfxn (sickle cell)

recurrent infxns with encapsulated organisms

• Strep Pneumo
• N. Meningitidis
• H. Influenza
• Klebsiella
• Group B Strep
• Salmonella
• Pseudomonas

• multisystemic acute vasculitis
• 80% are <5yrs old

• Fever >40C at least 5 days
• Conjuctivitis (bilat.)
• Polymorphous rash
• Cervical lymphadenopathy at least on node >1.5cm
• Mucous membrane erythema (strawberry tongue)
• Erythema of palms and soles, late desquamation

• Other:
• sterile pyuria, GB hydrops, hepatitis, arthritis

• High dose ASA (for inflammation/fever)
• IVIG (prevents aneurysms)
• Corticosteroids in IVIG refractory cases
• Low dose ASA usually continued for 6wks

poss complications: MI coronary aneurysm

AI disorder

• Morning stiffness
• gradual loss of motion for at least 6wks
• pts <16 yrs old

• Pauciarticular: MC
• 4 or fewer joints involved
• usually ANA + and RF-
• Uveitis common

• Polyarthritis:
• >5 joints, symmetric
• rarely RF +, but idicates severe dz
• may be ANA+ in mild dz

• Systemic-onset (Still's dz):
• recurrent High fevers (usually >39C)
• hepatosplenomegaly
• Salmon-colored macular rash
• usually RF-/ANA-

• 1st Line:
• NSAIDs
• strengthening exercises

• 2nd Line:
• Corticosteroids
• Immunosuppresive meds (methotrexate, anti-TNF)

• bacterial:
• S. pneumo
• H. influ
• M. catarrhalis

• viral:
• Influenza A
• RSV
• Parainfluenza

• acute inflammatory illness of small airways
• usually <2yrs old
• MCC=RSV
• others: parainflu, influenza, metapneumo

• low fever, rhinorrhea, cough apnea
• tachypnea, wheezing, IC retractions
• prolonged expiration, hyperres

mild dz: fluid & nebs outpt

resp distress: hospitalize, hydration, O2, albuterol nebs

hospitalize if: O2 sat <92%, toxic appearance, premie, <3mos, cardiopulm dz, bad parents

• aka Laryngotracheo-bronchitis
• MCC parainfluenza
• other: RSV, flu, adenovirus

• URI, then low fevers, mild dyspnea
• Inspiratory stridor worse w/ agitation
• barking cough, hoarse voice

• Dx: clinical impression
• Xray may show Steeple sign
• Tx:
• mild cases-cool mist therapy, fluids
• moderate - O2, PO/IM corticosteroids, epi nebs
• Severe - hospitalze, epi nebs

• supraglottic infxn
• MCC was H. Influ before vacc
• others: strep, nontypable H. Influ, viral

• Dysphagia, drooling, muffled voice
• inspiratory retractions, stridor
• Sniffing dog position

• Dx: clinical
• confirmed via visualization of cherry-red swollen epiglottis and arytenoids
• Xray may show thumb print sign

• Tx: endotracheal intubation, tracheostomy
• IV Abx