A Pediatrics Ck Part 4

Front 1

Question

Back 1

Answer

Hint 1

Hint

Front 2

FTT - Tx

Back 2

Tx depends on cause supplement nutrition if breastfeeding inadequate admit if - neglect severe malnourishment

Front 3

Atrial Septal Defect (ASD) - What is it

Back 3

Opening in atrial septum lets blood flow bet. atria L to R shunting due to lower R pressure blood flow to lungs inc.

Front 4

Atrial Septal Defect (ASD) - Hx/PE

Back 4

Hx - usu. presents in late childhd or early adult onset & severity dep. on size large defect - tire easy (DOE) freq. resp. infections FTT => CHF => cyanosis PE - RV heave wide, fixed split S2 systolic ejection murmur - upper left sternal border

Front 5

Atrial Septal Defect (ASD) - Dx

Back 5

Echo with color flow Doppler - diagnostic ECG - rt-axis deviation CXR - cardiomegaly and inc. pul vascular markings

Front 6

Atrial Septal Defect (ASD) - Tx

Back 6

. Small defects may close spontan (no Tx needed) . ABx prophylaxis before dental procedures . surgical closure - infants with CHF pts. > 2:1 pul to sys bld flow correct early to prevent - arrhythmia RV dysfunction Eisenmenger's syn

Front 7

Ventric Septal Defect (VSD) - What is it

Back 7

MC congenital heart defect More common in pts. with - Apert's syn Cri-du-chat Trisomies 13 & 18

Front 8

Ventric Septal Defect (VSD) - Hx/PE

Back 8

Hx - Sxs dep. on degree of shunting small def usu asymp at birth large def - CHF freq resp infections FTT PE - pansystolic murmur - lower lt sternal border loud pulmonic S2 in severe defects - systolic thrill cardiomegaly crackles

Front 9

Ventric Septal Defect (VSD) - Dx

Back 9

Echocardiogram - diagnostic EKG - may show RVH or LVH normal with small VSDs

Front 10

Ventric Septal Defect (VSD) - Tx

Back 10

. Most small defects close spontan (no Tx needed) . ABx prophylaxis before dental or pulmonary procedures . surgical closure - correct early to prevent - Eisenmenger's syn, et al . Tx CHF & resp infections

Front 11

Patent Ductus Arteriosus (PDA) What is it

Back 11

Failure of DA to close => L-to-R shunt (aorta to pulmonary artery) risk factors - high altitude (low O2) 1st trimester rubella in mom premies females (more common)

Front 12

Patent Ductus Arteriosus (PDA) Hx/PE

Back 12

Hx - typically asymp (small PDA) slowed growth recurrent lwr resp infections lwr extremity clubbing CHF Sxs PE - wide pulse pressure continuous machine murmur loud S2 bounding periph pulses

Front 13

Patent Ductus Arteriosus (PDA) Dx

Back 13

Small - often no signs of cardiomeg Large - echocardio - LA & LV enlarged EKG - LVH CXR - cardiomegaly color-flow doppler- diagnostic

Front 14

Patent Ductus Arteriosus (PDA) Tx

Back 14

Indomethacin (unless need PDA for survival) if indomethacin fails or child > 6-8 mos. old - surgical closure preferred

Front 15

Coarctation of the Aorta - What is it

Back 15

Narrowing prox or distal to DA => inc. flow above, dec. flow below coarctation more common in males Turner's 25% have bicuspid aortic valve

Front 16

Coarctation of the Aorta - Hx/PE

Back 16

Hx - often presents in childhood with asymp HTN headache syncope epistaxis DOE claudication PE - systolic BP higher in upr ext may be gtr in right arm femoral pulses weak or delayed late systolic murmur in left axilla apical impulse forceful advanced cases - well-developed upper body lwr ext wasting

Front 17

Coarctation of the Aorta - Dx

Back 17

EKG - LVH echocardiography color-flow doppler CXR - "3" sign rib notching aortography - diagnostic (cardiac catheterization)

Front 18

Coarctation of the Aorta - Tx

Back 18

Surgery or balloon angioplasty endocarditis prophylaxis

Front 19

Transposition of the Great Arteries - What is it

Back 19

Pulmon & sys circ in parallel aorta connected to RV pulmon artery connected to LV incompatible with life unless septal defect or PDA risk factors - babies of DM moms Apert's syn Down's cri-du-chat Trisomies 13 & 18

Front 20

Transposition of the Great Arteries - Hx/PE

Back 20

Critically ill cyanosis immed after birth tachypnea prog. resp failure CHF (some pts.)

Front 21

Transposition of the Great Arteries - Dx

Back 21

Echocardiography CXR - "egg-shaped sihouette" "egg on a string" "apple on a string"

Front 22

Transposition of the Great Arteries - Tx

Back 22

Prostaglandin E1 (PGE1) - to keep PDA open balloon atrial septostomy arterial or atrial switch op

Front 23

Tetralogy of Fallot - What is it

Back 23

VSD pulmonary stenosis RVH overriding aorta rt-to-lt shunting => early cyanosis risk factors - Down's cri-du-chat Trisomies 13 & 18

Front 24

Tetralogy of Fallot - Hx/PE

Back 24

Hx - cyanosis dyspnea fatigability profound cyanosis = tet spell squatting for relief hypoxemia => FTT, mental status changes PE - SEM at left sternal border RV lift single S2 CHF signs possible

Front 25

Tetralogy of Fallot - Dx

Back 25

Echocardiography catheterization CXR - boot-shaped heart dec. pulmon vascular markings EKG - rt-axis deviation RVH

Front 26

Tetralogy of Fallot - Tx

Back 26

PGE1 - keep reopen PDA for cyanotic spells - O2 propanolol knee-chest position fluids morphine balloon atrial septostomy before surgical correction

Front 27

Cerebral Palsy (CP) – What is it

Back 27

Group of nonprogressive, nonhereditary neurological d/o d/o in movement and posture MC movement d/o in kids MCC unknown - prenatal, perinatal and post insults risk factors – prematurity perinatal asphyxia intraut. growth retardation early infection or trauma brain malformation neonatal cerebral hemorrh

Front 28

Cerebral Palsy (CP) – What are the categories

Back 28

Spastic (pyramidal) - spastic paresis of any limb 75% of cases MR up to 90% athetoid - extrapyramidal, b. ganglia uncontrollable jerking writhing worse with stress disappears during sleep ataxic - cerebellum hard to coordinate movement wide-based gait mixed

Front 29

Cerebral Palsy (CP) – Hx/PE

Back 29

May be associated with - seizure d/o behavioral d/o hearing or vision impaired learning disabilities speech deficits hyperreflexia Babinski inc. tone/contractures weakness underdevelopment toe walking scissor gait hip dislocations scoliosis

Front 30

Cerebral Palsy (CP) – Dx

Back 30

Clinical r/o metabolic d/o, cerebellar dysgenesis, spinocerebellar degen EKG (if seizures)

Front 31

Cerebral Palsy (CP) – Tx

Back 31

Special ed physical therapy braces surgical rel of contractures for spasticity - diazepam dantrolene baclofen for severe contractures - baclofen pumps posterior rhizotomy

Front 32

Febrile Seizures - What is it

Back 32

In kids 6 mos. - 6 y/o no evidence of intracranial infection or other cause risk factors - rapid rise in temp Hx in close relative

Front 33

Febrile Seizures - Hx/PE

Back 33

Most are simple seizures simple - high fever fever onset within hrs of sz generalized seizure lasts < 15 min. 1 in a 24-hr period complex - low-grade fever fever for several days before seizure onset seizure has focal features can have postictal paresis lasts > 15 min. > 1 in a 24-hr period

Front 34

Febrile Seizures - Dx

Back 34

Find source of infection LP - if signs of CNS infection No labs if presentation consistent with febrile sz Atypical presentation - electrolytes glucose BC UA CBC with diff EEG & MRI - complex seizures

Front 35

Febrile Seizures - Tx

Back 35

Simple - aggressive antipyretics tx underlying illness complex - thorough neuro exam chronic anticonvulsants may be necessary

Front 36

Febrile Seizures - Complications

Back 36

Febrile Sz will recur in 30% no inc. risk of epilepsy, developmental, intellectual or growth abnorm those with complex seizures - 10% risk of dev. epilepsy

Front 37

Neonatal Jaundice - What is it What are the types What is kernicterus

Back 37

Inc. serum bilirubin from inc. production or dec. excretion conjugated - always pathologic uncon - patholog or physiolog physiologic jaundice - not present until 72 hrs after birth bilirubin peaks < 15 mg/dL resolves by 1 wk in term resolves by 2 wks in premies pathologic jaundice - present in 1st 24 hrs of life bilirubin rises to > 15 mg/dL persists past 1 wk in term persists past 2 wks in premies kernicterus - unconjug hyperbilirubinemia bilirubin deposits in pons, basal ganglia, cerebellum irreversible can be fatal risk factors - premies asphyxia sepsis

Front 38

Neonatal Jaundice - Hx/PE

Back 38

Hx - child breastfed or formula? intrauterine drugs fam Hx of - hemoglobinopathies enzyme def. RBC defects Sxs - abdom distention delayed passage of meconium light-colored stools dark urine low Apgar scores weight loss vomiting kernicterus - lethargy poor feeding high-pitched cry hypertonicity seizures jaundice may be cephalopedal check for signs of - infection congen malformations cephalohematomas bruising pallor petechiae hepatomegaly

Front 39

Neonatal Jaundice - Dx

Back 39

CBC periph blood smear blood type mom and baby Coombs' test bilirubin levels direct hyperbilirubinemia - LFTs bile acids BC sweat test tests for aminoacidopathies & a1-antitrypsin deficiency Sepsis w/u and ICU - jaundice febrile hypotensive and/or tachypneic

Front 40

Neonatal Jaundice - Tx

Back 40

Tx underlying cause unconjugated - severe - exchange transfusion if mild - phototherapy start earlier for premies (start at 10-15 mg/dL)

Front 41

Down Syndrome - What is it

Back 41

Trisomy 21 MC chromosome d/o #2 cause of congen MR risk inc. with mom's age, but 80% of kids are born to women < 35 y/o flat facial profile prominent epicanthal folds simian crease dec. levels of AFP brushfield spots duodenal atresia - double bubble on US/XR congen heart disease - septum primum-type ASD due to endocardial cushion defect Alzheimer's > 35 y/o inc. risk of ALL meiotic nondisjunction

Front 42

Edwards' Syndrome - What is it

Back 42

Trisomy 18 (election age=18) severe MR rocker bottom feet low-set ears micrognathia congen heart dis clenched hands prominent occiput death usu < 1 y/o

Front 43

Patau's Syndrome - What is it

Back 43

Trisomy 13 (puberty=13) severe MR microphthalmia microcephaly cleft lip/palate abnorm forebrain polydactyly congen heart disease death usu < 1 y/o

Front 44

Klinefelter's Syndrome - What is it

Back 44

XXY (male) inactivated X (Barr body) 1 of MCC of male hypogonadism testicular atrophy eunuchoid body shape, long long extremities gynecomastia female hair distribution

Front 45

Turner' Syndrome - What is it

Back 45

XO (No Barr body) short stature ovarian dysgenesis webbing of neck cystic hygroma coarctaton of aorta MCC of primary amenorrhea

Front 46

Double Y males - What is it

Back 46

XYY phenotypically normal very tall severe acne antisocial behavior

Front 47

Phenylketonuria (PKU) - What is it

Back 47

Phenylalanine => tyrosine In PKU, dec. phenylalanine hydroxylase or tetrahydrobiopterin cofactor tyrosine becomes essential phenylalanine builds up => excess phenylketones phenylketones - phenylacetate phenyllactate phenylpyruvate MR fair skin eczema musty body odor screened for at birth Tx - dec. phenylalanine (in Nutrasweet) and inc. tyrosine in diet

Front 48

Fabry's Disease - (lysosomal storage disease) What is it

Back 48

X-linked recessive def. of a-galactosidase A ceramide trihexoside accums renal failure

Front 49

Krabbe's Disease - (lysosomal storage disease) What is it

Back 49

AR (autosomal recessive) def. of B-galactosidase galactocerebroside accums in the brain optic atrophy spasticity early death

Front 50

Gaucher's Disease - (lysosomal storage disease) What is it

Back 50

AR def. of B-glucocerebrosidase glucocerebroside accums in brain, liver, spleen, bm Gaucher's cells - "crinkled paper" enlarged cytoplasm Type I - more common, compa- tible with normal life span

Front 51

Niemann-Pick Disease - (lysosomal storage disease) What is it

Back 51

AR def. of sphingomyelinase sphingomyelin and cholesterol build up in reticuloendo- thelial & parenchymal cells cherry-red spot on macula death by age 3