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APGAR = ?


•Pulse of 130, acrocyanotic, grimaces to stimulation, moving all extremities and crying

8.


2pts for pulse, 1 for color, 1 for irritability, 2 for tone and 2 for respiration
(Pulse of 130, acrocyanotic [Acrocyanosis is blueness of the extremities (the hands and feet)], grimaces to stimulation, moving all extremities and crying)

8.




2pts for pulse, 1 for color, 1 for irritability, 2 for tone and 2 for respiration


(Pulse of 130, acrocyanotic [Acrocyanosis is blueness of the extremities (the hands and feet)], grimaces to stimulation, moving all extremities and crying)




acrocyanotic = blue hands and feet





What does the APGAR tell you?




What does the APGAR not tell you?

General info about how the newborn tolerated labor (1min) and the newborn’s response to resuscitation (5min)




What to do next (does not guide therapy) How the baby will turn out (does NOT predict neurologic outcome)

Erb-Duchenne


level involved


nerves involved


muscles involved


presentation

C5-C6
Erb–Duchenne palsy presents as a lower motor neuron syndrome  and the most commonly involved nerves are the:
1) suprascapular nerve, 
2) musculocutaneous nerve, 
3) and the axillary nerve



  The signs of Erb's Palsy include loss of sensa...

C5-C6


Erb–Duchenne palsy presents as a lower motor neuron syndrome and the most commonly involved nerves are the:


1) suprascapular nerve,


2) musculocutaneous nerve,


3) and the axillary nerve




The signs of Erb's Palsy include loss of sensation in the arm and paralysis and atrophy of the deltoid, biceps, and brachialis muscles.[8] "The position of the limb, under such conditions, is characteristic: the arm hangs by the side and is rotated medially; the forearm is extended and pronated. The arm cannot be raised from the side; all power of flexion of the elbow is lost, as is also supination of the forearm".[6] The resulting biceps damage is the main cause of this classic physical position commonly called "waiter's tip."

Klumpke


level involved


nerves involved


muscles involved


presentation

C7-C8 + T1 ( the eighth cervical (C8) and first thoracic (T1) nerves are injured either before or after they have joined to form the lower trunk)


paralysis affects, principally, the intrinsic muscles of the hand (notably the interossei, thenar a...

C7-C8 + T1 ( the eighth cervical (C8) and first thoracic (T1) nerves are injured either before or after they have joined to form the lower trunk)




paralysis affects, principally, the intrinsic muscles of the hand (notably the interossei, thenar and hypothenar muscles) and the flexors of the wrist and fingers (notably flexor carpi ulnaris and ulnar half of the flexor digitorum profundus). Forearm pronators and wrist flexors may be involved, as may dilators of the iris and elevators of the eyelid (both of which may be seen in the case of associated Horner's syndrome). The classic presentation of Klumpke's palsy is the “claw hand” where the forearm is supinated and the wrist and fingers are flexed.

on physical exam you find:


When assessing Moro on an LGA newborn, the right arm remains extended and medially rotated.

Erb-Duchenne C5-C6. waiter's tip

on physical exam you find:


When palpating the clavicles on a LGA newborn, you feel crepitus and discontinuity on the left.

Clavicular Fracture.Will form a callus in 1wk. No tx needed. Can use figure of 8 splint.

Caput succedaneum


How will it present?


How to differentiate from cephalohematoma?

Edema. Crosses suture lines

Edema. Crosses suture lines

Cephalo-hematoma


How will it present?


How to differentiate from Caput succedaneum?

“Fluctuance. Doesn’t cross suture lines.”

“Fluctuance. Doesn’t cross suture lines.”

mongolian spots




Mongolian spot = arrested melanocytes

Nevus Simplex (Salmon Patch) =pale pink, vascular, face disappear, neck persist – get red when angry or plays sports (face or neck only really). Not palpable



Milia = filledw/ keratin, will see on DOL 1

Erythema toxicum DOL2, yellow on erythematous base. Eosinophils




Erythema toxicum neonatorum[1] (also known as erythema toxicum,,[1] urticaria neonatorum and toxic erythema of the newborn[1]) is a common rash inneonates.[2]:139[3] It appears in up to half of newborns carried to term, usually between day 2–5 after birth; it does not occur outside the neonatal period.Erythema toxicum is characterized by blotchy red spots on the skin[4] with overlying white or yellow papules or pustules.[5] These lesions may be few or numerous. The eruption typically resolves within first two weeks of life, and frequently individual lesions will appear and disappear within minutes or hours. It is a benign condition thought to cause no discomfort to the baby

Strawberry Hemangioma:




A hemangioma is a benign and usually self-involuting tumor (swelling or growth) of the endothelial cells that line blood vessels, and is characterised by increased number of normal or abnormal vessels filled with blood. It usually appears in the first weeks of life and grows most rapidly over the first six months. Usually, growth is complete and involution has commenced by twelve months. Half of all infantile hemangiomas have completed involution by age five, 70% by age seven, and most of the remainder by age twelve.

Neonatal Acne = week of life 1 or 2 (different from milia in timing). Likelydue to circulating androgens in mom.

Nevus Sebaceous = Remove nevus sebaceous (can be malignant)




Described as “an area of alopecia with orange colored nodular skin”.




The condition is named for an overgrowth of sebaceous glands in the area of the nevus.




Skin growths such as benign tumors and basal cell carcinoma can arise in sebaceous nevi, usually in adulthood. Rarely, sebaceous nevi can give rise to sebaceous carcinoma


What is it? 
What to do? 



What is it?


What to do?

Seborrheic Dermatitis = The specific causes are not known.[9] Current theories for the cause of the disease include a weakened immune system (fungal), the lack of specific nutrients (for example zinc), or issues with the nervous system




Described as “thick, yellow/white oily scale on an inflammatory base”.




What to do? Gently clean w/ mild shampoo

Two disorders screened for in every state because they are disastrous if not caught early (and happen to be a contraindication to breast feeding…)




which will occur @ birth and which will be delayed?

Phenylketonuria.




and




Galactosemia.




See galactosemia right at birth (G1p crosses BBB andplacenta), see PKU issues delayed from birthtin;mso:{*\

Phenylketonuria.

Phenylketonuria. 
•Deficient Phehydrolxalase. 
•Sxs= MR, vomiting, athetosis [

a condition in which abnormal muscle contractions cause involuntary writhing movements. It affects some people with cerebral palsy, impairing speech and use o...

Phenylketonuria.


•Deficient Phehydrolxalase.


•Sxs= MR, vomiting, athetosis [a condition in which abnormal muscle contractions cause involuntary writhing movements. It affects some people with cerebral palsy, impairing speech and use of the hands. ], seizures, developmental delay over 1st few mos


•Signs = fair hair, eyes, skin, musty smell.


•Low Phediet.

Galactosemia.


Which organs affected?


Key signs?


Management?

Galactosemia. 
•Deficient G1p-uridyl-transferase. G1p accumto damage kidney, liver, brain. 
•Sxs= MR direct hyperbili& jaundice, ↓glc, cataracts, seizures. 
•Predisposed to E. coli sepsis. 
•No lactose porvida.

Galactosemia.


•Deficient G1p-uridyl-transferase. G1p accumto damage kidney, liver, brain.


•Sxs= MR direct hyperbili & jaundice, ↓glc, cataracts, seizures.


•Predisposed to E. coli sepsis.


•No lactose porvida.

A Yellow Baby 3 days old, bili @ 10, direct is 0.5. Eating & pooping well.
Physiologic Jaundice. Gone by 5th DOL. blue light. Liver conjugation not yet mature.
A Yellow Baby 7 days old, bili @ 12, direct is 0.5. dry mucous membranes, not gaining weight.
Breast feeding Jaundice. ↓feeding = dehydration = retain meconium & re-absorb deconjugated bili



Breast feeding (issue) jaundice before breast milk jaundice.Breast feeding (issue) jaundice = dehydrated likely also w/ dry mucousmembranes

A Yellow Baby 14 days old, bili @ 12, direct is 0.5. Baby regained birth weight, otherwise healthy.
If jaundice lasts past the first week of life in a breastfed baby who is otherwise healthy, the condition may be called "breast milk jaundice."

Breast milk Jaundice. Breast milk has glucuronidase and de-conj bili.




Breast milk jaundice is likely caused by:


Factors in a mother's milk that help a baby absorb bilirubin from the intestine


Factors that keep certain proteins in the baby's liver from breaking down bilirubin

A Yellow Baby 1 day old, bili @ 14, direct is 0.5. Are you worried?


Next best test? (If positive?/If negative?)

Yes, Pathologic Jaundice = on 1stDOL, bili >12, d-bili >2, rate of rise >5/day.





Next best step w/ pathologic jaundice = coombs test =




Coombs test



if +, Means Rh or ABO incompatability



if -, Means twin/twin or mom/fetus transfusion, IDM (infant of diabetic mom), spherocytosis, G6p-DH deficiency, etc.

A Yellow Baby 7 days old. Dark urine, pale stool. Bili @ 12, dbili is 8. LFTs also elevated





Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.





causes of non-inherited direct hyperbilirubinemia?



What type of bili can cross BBB?

Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.



Always r/o sepsis!


Galactosemia,


hypothyroid,


choledochal cyst,


CF

Random inherited causes of indirect hyperbili? (2)

Gilbert. ↓glucoronyl transferase level 

Crigler-Najjar. (type1) total deficiency

Gilbert. ↓glucoronyl transferase level




Crigler-Najjar. (type1) total deficiency



Random inherited causes of direct hyperbili (2)

Dubin Johnson. black liver. 

Rotor. No black liver.

Dubin Johnson. black liver.




Rotor. No black liver.

Why do we care about hyperbilirubinemia?

Indirect bili can cross BBB, deposit in BG and brainstem nuclei and cause kernicterus. (esp if bili is >20)

What is the treatment for hyperbilirubinemia?



Kernicterus= deposits in…

Phototherapy = ionizes the uncoj bili so it can be excreted. Double volume exchange transfusion if that doesn’t work. >20



Kernicterus = deposits in… basal ganglia and cranial nervenuclei. (extreme worry if bili >20)

Baby is born w/ respiratory distress, scaphoid abdomen



•Biggest concern?


•Best treatment?

Diaphragmatic hernia



Biggest concern? = Pulmonary hypoplasia



Best treatment? = If dx prenatally, plan delivery at @ place w/ ECMO. Let lungs mature 3-4 days then do surg

Baby is born w/ respiratory distress w/ excess drooling.




Dx




Best diagnostic test?




What else do you look for?

TE-Fistula




Best diagnostic test? = Place feeding tube, take xray, see it coiled in thorax




What else do you look for? = VACTER associated anomalies-vertebral, anal atresia, cardiac, radial and renal. [i.e. renal US, spinal survey]

1 week old baby becomes cyanotic when feeding but pinks up when crying.




What else do you look for?

Dx = Choanal Atresia




What else do you look for?




CHARGE associated anomalies- coloboma [A coloboma (from the Greek koloboma, meaning defect,) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc], heart defects, retarded growth, GU anomalies , Ear anomalies and deafness

32 wk premie has dyspnea, RR of 80 w/ nasal flaring.



*Prenatal dx?



*Pathophys?



*Tx?

RDS



*Prenatal dx? = L/S<2 (lichtin/sphingomyelin ratio), give antenatal betamethasone



*Pathophys? = Surfactant def, can’t keep alveoli open.



*Tx? = O2 therapy with nasal CPAP to keep alveoli open

38 wk LGA infant born by C/S to an A2GDM has dyspnea/grunting




*Pathophys?




*Prognosis?

dx = TTN [Transient Tachypnea of the Newborn]




*Pathophys? Lung fluid not squeezed out, retained [perihilar streaking, air trapping]




*Prognosis? Usually minimal O2 needed. Self-resolves in hours to days.

41 wk AGA infant was born after ROM yielded greenish-brown fluid.




*Next best step?




*Complications?

dx = Meconium aspiration syndrome




*Next best step? Intubate & suction before stimulation




*Complications? Pulmonary artery HTN, pneumonitis

Respiratory Distress Syndrome (RDS) is a clinical diagnosis but one which is often interchanged with the terms Hyaline Membrane Disease (a pathological diagnosis) and Surfactant Deficiency (a term describing the typical appearances on radiographs of infants with RDS).




The typical radiological features of Surfactant Deficiency are:


Small volume lungs


Homogenous "ground glass" opacity


Air bronchograms



Imaging in Transient Tachypnea of the Newborn




Perihilar streaking and trapped air





The lungs usually are affected diffusely and symmetrically, and the condition is commonly accompanied by a small pleural effusion.[8, 9] The clinical course of transient tachypnea is relatively benign when compared with the severity suggested by chest films. Radiographic resolution by the second or third day characterizes this entity and differentiates it from other possible disorders;

Meconium aspiration syndrome




suction and Intubate FIRST




The radiograph usually shows


Coarse infiltrates


Widespread consolidation


Hyperinflation


Pleural effusions are not uncommon


Pneumothorax and pneumomediastinum may be present

Gastroschisis - lat to midline, no sac. elevated AFP

Omphalocele - midline, sac. Beckwidth Weidman (large baby, ear pits, big tongue)

GI disorders



Defect lateral (usually R) of the midline, no sac.



–Assoc w/ other disorders?



–Complications?

Gastroschisis



*will see high maternal AFP



–Assoc w/ other disorders? Not usually.



May be atretic or necrotic req removal. Short gut syndrome

GI disorders Defect in the midline. Covered by sac.



–Assoc w/ other disorders?

Omphalocele



assoc w/


Edwards & Patau (18) = holoprosencephaly, microencephaly, polydactyly, low set ear, omphalocele, cleft palate, abnormal genitalia, kidney, heart defects


Beckwith Wiedemann Syndrome = big baby w/ big tongue, ↓glc, ear pits

GI disorders Defect in the midline. No bowel present.




–Assoc w/ other disorders?




–Treatment?


Umbilical Hernia




–Assoc w/ other disorders?


Assoc w/ congenital hypo-thyroidism. (also big tongue)




–Treatment? Repair not needed unless persists past age 2 or 3.

4wk old infant w/ non-bileous vomiting and palpable “olive”



–Metabolic complications (ABG)?



–Tx?

Pyloric Stenosis



–Metabolic complications? Hypochloremic, metabolic alkalosis




The cardinal findings in pyloric stenosis are dehydration, metabolic alkalosis, hypochloremia, and hypokalaemia. Loss of gastric fluid leads to volume depletion and loss of sodium, chloride, acid (H+) and potassium. This results in a hypokalemic, hypochloremic metabolic alkalosis. The kidneys attempt to maintain normal pH by excreting excess HCO3.The kidneys attempt to conserve sodium at the expense of hydrogen ions, which can lead to paradoxical aciduria. In more severe dehydration, renal potassium losses are also accelerated owing to an attempt to retain fluid and sodium.





–Tx? Immediate surg referral for myotomy (pyloric sphincter)

2wk old infant w/ bileous vomiting. The pregnancy was complicated by poly-hydramnios.




–Assoc w/?

Intestinal Atresia, doudenal atresia (double-bubble sign) Or Annular Pancreas




–Assoc w/? Down Syndrome (esp duodenal)

1 wk old baby w/ bileous vomiting, draws up his legs, has abd distension




–Pathophys?

Malrotation and volvulus




*Ladd’s bands (little pieces of peritoneum) can kink the duodenum




–Pathophys? Doesn’t rotate 270 ccw around SMA

A 3 day old newborn has still not passed meconium.




–DDX? (name 2)

Meconium ileus (CF) - consider CF if +FH*gastrograffin enema is dx & tx




Hirschsprung’s - DRE exposion of poo. bx showing no ganglia is gold standard

A 5 day old former 33 weeker develops bloody diarrhea




–What do you see on xray?




–Treatment?




–Risk factors?

Necrotizing Enterocolitis

  –What do you see on xray?   Pneumocystis intestinalis (air in the wall)

  –Treatment?  NPO, TPN (if nec), antibiotics and resection of necrotic bowel

–Risk factors? Premature gut, introduction of feeds, ...

Necrotizing Enterocolitis




–What do you see on xray? Pneumocystis intestinalis (air in the wall)




–Treatment? NPO, TPN (if nec), antibiotics and resection of necrotic bowel




–Risk factors? Premature gut, premature introduction of feeds, formula.



A 2mo old baby has colicky abd pain and current jelly stool w/ a sausage shapend mass in the RUQ.




dx and tx

Intussusception




*Barium enema is dx and tx

Newborn male with no palpable testes.


–Where are they usually?


–Next best test?


–When to do surgery?

Cryptorchidism
Assoc w/ prune belly syndrome


 –Where are they usually?

Inguinal canal


–Next best test?

Ultrasound if not palpable


–When to do surgery?

If not descended by 1yr to avoid sterility/cancer

Cryptorchidism


Assoc w/ prune belly syndrome




–Where are they usually? Inguinal canal




–Next best test? Ultrasound if not palpable




–When to do surgery? If not descended by 1yr to avoid sterility/cancer





Newborn male with urethral opening on the ventral surface.




–What do you NOT do?

Hypospadias




–What do you NOT do? Circumcise! Foreskin is used in eventual repair

Newborn child with ambiguous genitalia. One month later has vomiting & ↓Na ↑K and acidosis.




–MC Cause?


–Definitive test?


–Tx?

Congenital Adrenal Hyperplasia = 21 Hydroxylase deficiency. (autosomal recessive)


  –Definitive test?   17-OH progesterone before and after ACTH bolus



  –Tx?  Hydrocortisone and fludrocortisone (↑ doses in times of stress)

Congenital Adrenal Hyperplasia = 21 Hydroxylase deficiency. (autosomal recessive)




–Definitive test? 17-OH progesterone before and after ACTH bolus




–Tx?


Hydrocortisone [cortisol] and fludrocortisone [aldosterone] (↑ doses in times of stress)





Infants of Diabetic Mothers



•Mothers with pre-existing diabetes (esp type 1)


-special management = ?


-risks = ?

Infants of Diabetic Mothers



•Mothers with pre-existing diabetes (esp type 1)



–Control glc in the 1st trimester & take 4mg folate/day


– Generally worse issues w/ moms in DM1 = Placental insufficiency/IUGR, Congenital heart dz, NTD, Caudal regression syndrome, Small left colon syndrome (ie. Trouble with tubes - cord/placenta colon heart anus, ntd)

Mothers with gestational diabetes




–LGA. Complications?


–Hypoglycemia. Why?•Complications?•Treatment?


–Hypocalcemia. Complications?


–Polycythemia. Why?•Complications?


–Jaundice. Why?


–RDS. Why?

–LGA. Complications? ↑risk of birth trauma (clavicle, Erbs), C/S & TTN




–Hypoglycemia. Why? •Complications? •Treatment?


Maternal hyperglycemia causes fetal hyperinsulinemia.


Complication = Neonatal seizure (always check glc!) Tx =Feed frequently if <40. IV dextrose if <20




–Hypocalcemia. Complications? Neonatal seizure (always check Ca!)




–Polycythemia. Why? •Complications?


Big baby needs more O2, hypoxia causes ↑EPO.


complications = renal or splenic vein thrombosis.




–Jaundice. Why? More RBCs to bread down. Risk for kernicterus




–RDS. Why? ↑insulin interferes w/ cortisol surge prior to birth that normally stimulates lung maturation. Check L/S ratio >2

If a baby < 28 days has a fever >100.4 = what condition?

If a baby < 28 days has a fever >100.4 = sepsis until proven otherwise.

sepsis Sxs in newborn = ?




tests to run if fever >100.4 = ?

Sxs might include irritability, poor feeding.




tests = CBC w/ diff, CXR, blood cultures, urine cultures (use catheter), LP

Risk factors for neonatal sepsis? (x6)




Most common bugs that cause sepsis? empiric treatment?

Prematurity, chorioamnionitis, intrapartum fever, maternal leukocytosis, prolonged rupture of membranes (>18hrs), GBS+ mom.




Group B Strep, E. Coli, Lysteria monocytogenes.




Tx = Amp + gent until 48hr cx are negative. Cefotaxime + Amp if meningitis suspected

Newborn w/ Maculopapular rash on palms and soles, snuffles, periostitis (inflammation of periostium).



tx?

Syphilis. Tx w/ PCN



TORCH infections

Newborn w/ Hydrocephalus, intracranial calcifications and chorioretinitis.




tx = ?

Toxoplasmosis. Tx w/ sulfadiazine + leucovorin.




TORCH infections

Cataracts, deafness and heart defects (esp PDA, VSD), extramedullary hematopoeisis.

Rubella. No tx




TORCH infections

Microcephaly, periventricular calcifications, deafness, thrombo-cytopenia and petechiae.




tx =?

CMV. Tx w/ ganciclovir, but won’t prevent MR




TORCH infections

Limb hypoplasia, cutaneous scars, cataracts, chorioretinits, cortical atrophy.



tx = ?

Congenital Varicella if mom infected 1stor 2nd trimester. If mom is exposed 5 days before –2 days after delivery, baby gets VZIG.



TORCH infections

DOL 1-3, red conjunctiva and tearing.

Chemical conjunctivitis caused by silver nitrate drops. Not common anymore b/c we use erythromycin.

DOL 3-5, bilateral purulent conjunctivitis can cause corneal ulceration.



Tx?

Gonococcal conjunctivitis tx w/ topical erythromycin and IV 3rd gen ceph.



Hint: purulent = gonococcal / mucoid = chlamydial

DOL 7-14, red conjunctiva w/ mucoid discharge & lid swelling?



Tx?

Chlamydia conjunctivitis



tx w/ oral erythromycin.



Complication is chlamydial pneumonia leads to cough, nasal drainage, scattered crackles+ bilat infiltrates on CXR

A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue, white spots on his iris





Down’s Syndrome

Down’s Syndrome


expected IQ?


Common medical complications?–Heart?–GI?–Endocrine?–Msk?–Neuro?–Cancer?

likely have moderate MR. Speech, gross and fine motor skill delay



VSD, endocardial cushion defects


Hirschsprung’s, intestinal atresia, imperforate anus, annular pancreas


Hypothyroidism


Atlanto-axial instability (concern with intubation)


Incr risk of Alzheimer’s by 30-35. (APP is on Chr21)


10x increased risk of ALL

Omphalocele, rocker-bottom feet/ hammer toe, microcephaly and clenched hand, multiple others.

Edward’s syndrome(Trisomy 18)

Holoprosencephaly, severe mental retardation and microcephaly, cleft lip/palate, multiple others.

Patau’s syndrome(Trisomy 13)

14 year old girl with no breast development, short stature and high FSH.

Turner’s syndrome. XO. MC genotype of aborted fetuses

Turner’s syndrome


–Assoc anomalies?


–Tx?

Horseshoe kidney, coarctation of aorta, bicuspid aortic valve




Estrogen replacement for secondary sex char, and avoid osteoporosis

18 year old tall, lanky boy with mild MR has gynecomastia and hypogonadism. *increased risk for gonadal malignancy*

Klinefelter’s syndrome

Café-au-laitspots, seizures large head. Autosomal dominant

Neurofibromatosis

Mandibular hypoplasia, glossoptosis, cleft soft palate. W/ FAS or Edwards.

Pierre Robin Sequence

Broad, square face, short stature, self-injurious behavior. Deletion on Chr17

Smith Magenis

Hypotonia, hypogonadism, hyperphagia, skin picking, agression. Deletion on paternal Chr15.

Prader-Willi

Seizures, strabismus, sociable w/ episodic laughter. Deletion on maternal Chr15.

Angelman

Elfin-appearance, friendly, increased empathy and verbal reasoning ability. Deletion on Chr7.

Williams syndrome

IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive.

Cornelia de Lange

Microcephaly, smooth philtrum, thin upper lip, ADHD-like behavior. Most common cause of mental retardation.

Fetal Alcohol Syndrome

Most common type of MR in boys, CGG repeats on the X-chrw/ anticipation. Macrocephaly, macro-orchidism, large ears.

Fragile X Syndrome

Autosomal dominant, or assoc w/ advanced paternal age. Short palpebral fissures, white forelock and deafness.

Waardenburg Syndrome

2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam.




–Labs?

Bruton agammaglobulinemia-x-linked-infx start @ 6-9mo (why?)




–Labs? Absence of B cells on flow cytometry, low levels of all Igs




[no tonsils = B cell problem = Burtons]

17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells.



–Complication?

Combined variable immune deficiency. (acquired). Treatment consists in infusions of protective antibodies, which patients would otherwise lack.



comes on later (age 17), less severe.



Increased lymphoid tissue leads to increased risk for lymphoma

Most common B-cell defect. Recurrent URIs, diarrhea.




–Complication?

Selective IgA deficiency




–Complication? Anaphylaxis reaction if given blood containing IgA

3wk old M with seizure, truncus arteriosus, micrognathia



–Genetic defect?


–What types of infxns in childhood?

DiGeorge Syndrome [seizure, truncus arteriosus, micrognathia and no thymus - problem w/ t cells]



–Genetic defect? Microdeletion on Chr22



–What types of infxnsin childhood?Candida, viruses, PCP pneumonia

Infant w/ severe infxns, no thymus or tonsils. Severe lymphopenia.


–Inheritance?


–Tx?

SCID [no thymus = problem w/ T cells, no tonsils = problem w/ b cells]. See infxns w/ bacterial, viral and opportunistic bugs.




–Inheritance? MC is XLR. [few are AR is an ADA deficiency]




–Tx? Pediatric emergency! Need bone marrow transplant by age 1 or death.

3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses.




inheritance?




•How to diagnose?

Chronic granulomatous disease




XLR. PMNs can ingest but not kill catalase + bugs.




•How to diagnose?




Nitrotetrazolium blue (yellow means they have the dz). New test is Flow cytometry w/ DHR-123

18mo M baby w/ severe ezcema, petechiae, and recurrent ear infxns.



–Ig make up?

Wisckott-Aldrich Syndrome.



rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea


Often present w/ prolonged bleeding after circumcision.



Immunoglobulin M (IgM) levels are reduced, IgA and IgE are elevated,


and IgG levels can be normal, reduced, or elevated

Newborns lose 10% of birth weight in 1st week. Why?

Diuresis of extravascular fluid

Should regain birth weight by?

2 weeks

Should double weight by?

6 months

Should triple weight by?

1 year

Increased 50% of length by?

1 year

Double length by?

5 years

Contraindications to breast-feeding.

Galactosemia, PKU, HIV, HSV on the breast, chemo, Li, Iodide, alcohol.

Breast milk vs. Formula


fatty acid


protein


minerals

Breast milk is whey dominant, more lactose, more LCFA, less Fe but its better absorbed.

14 y/o boy, always been below 5% in height. Parents are tall & were “late bloomers”.

Constitutional Growth Delay: Bone age < Real age. Child is likely to have normal final adult height.

14 y/o boy, always been below 5% in height. father is 5’2” and mom is 4’10”

Familial Short Stature



Bone age = Real age.

14 y/o boy, 50% in height, 97% for weight.



Bone age?

Obesity



Bone age > Real age.



(fat cells make estrogen, mature bone and cause closure of ephysiseal plate)

Other causes of same bone age findings? X4

- Precocious puberty,


- CAH (21-hydroxylase deficiency, 11β-hydroxylase deficiency),


- Hyperthyroidism


- Familial Short Stature (fss)



Bone age = Real age.

14 y/o boy, starts out in 50% for height, in the past 2 years is now between the 5%-10%.



(DDx x 4)


Vision problems


Fatigue


Issues with sex hormones

Pathologic Short Stature (falls off growth curve): (3 brain causes, one chromosomal)



Consider craniopharyngioma (vision problems, chect CT),


Hypothyroidism (check TFTs),


Hypopituitarism (check IgF1 - In most of the cases, three or more hormones are deficient. The most common problem is insufficiency of follicle-stimulating hormone (FSH) and/or luteinizing hormone (LH) leading to sex hormone abnormalities. Growth hormone deficiency is more common in people with an underlying tumor than those with other causes),


Turners (check karyotype).

Primitive Reflexes:




When head is extended, arms and legs both flex.



Moro. From birth – 4/6mo

Primitive Reflexes:




When you place your finger in palm, flexes hand.

Grasp. From birth –4/6mo

Primitive Reflexes:




Rub cheek, head turns to that side

Rooting. From birth –4/6mo

Primitive Reflexes:




When stimulate dorsum of foot, steps up.

Placing (stepping)




From birth –4/6mo

Primitive Reflexes:




When neck is turned to one side, opposite arm flexes and ipsilateral arm extends

Tonic neck. From birth –4/6mo

Primitive Reflexes:




When a fall is simulated, arms are extended.

Parachute. From 6-8mo –por vida

Primitive Reflexes:




CNS origin of these reflexes?

Brainstem and vestibular nuclei

Developmental Milestones:




Roll over?

6mo. Also, sits w/ support, creep/crawl, stranger anxiety

Developmental Milestones:




Skips & copies a triangle?

60mo. Also draws a person w/ 8-10 parts.

Developmental Milestones:




Walk alone?

15mo. Also, builds 3 cube tower and scribbles w/ crayon.

Developmental Milestones:




Walk upstairs w/ alternating feet?

30mo. Also, stands on 1 foot, knows name, refers to self as “I”.

Developmental Milestones:




Copy cross and square?

48mo. Also, hops on 1 foot, throws ball overhead, group play and goes to toilet alone.

Developmental Milestones:




Sit unsupported + Pincer grasp?

9mo. Also, walks w/ hand held, object permanence, peak-a-boo & bye-bye

Developmental Milestones:




Walks downstairs, copies a circle and can jump with both feet.

36mo. Also, knows age and sex. Understands taking turns. Counts to 3.

Developmental Milestones:




½ of speech is comprehensible & 2-3word sentences?

24mo. Also, runs well, builds 7 cube tower, holds spoon, helps undress.

Developmental Milestones:




Social smile, start to coo?

2mo. Also, sustains head in plane of body, follows an object 180deg, some vowel sounds

Urinary continence should be attained by:

5 years

Primary vs Secondary incontinence = ?

Primary if continence never achieved, Secondary if after a 6mo period of dryness.

Primary if continence never achieved,


Secondary if after a 6mo period of dryness.



•Medical causes to r/o?


•Tx of Enuresis?

•Medical causes to r/o? UTI (do a UA), constipation (disimpact) or Diabetes (check sugar)



•Tx of Enuresis (only age greater than 5)? 1st-behavioral-reward system, pee before bed, bell-alarm pad. 2nd-pharmacological-DDAVP or imipramine

Fecal continence should be attained by:

4 years

Most common cause of Fecal incontinence?

Constipation, fecal retention

Treatment of Fecal incontinence ?

Disimpact, stool softeners, high fiber diet (MCC = Constipation, fecal retention)

Behavioral modification of Fecal incontinence ?

Post-prandial toilet sitting.

Immunizations


•Due at birth?


•Due at 2mo, 4mo and 6mo?


•Starting a 6mo and then yearly?


Contraindications to flu vac?


•Due at 12mo?


–Contraindications to MMR?


•Due before age 2?


•Due before kindergarden?


•Due at age 12?

Immunizations 


•Due at birth? HepB (remember to give HepBIV if mom is HbsAg +)


•Due at 2mo, 4mo and 6mo? HepB, Rota, Dtap, HiB, PCV and polio vaccine (IPV)


•Starting a 6mo and then yearly? Influenza 
–Contraindications to flu vac? Eg...

Immunizations



•Due at birth? HepB (remember to give HepBIV if mom is HbsAg +)



•Due at 2mo, 4mo and 6mo? HepB, Rota, Dtap, HiB, PCV (pnemo) and polio vaccine (IPV)



•Starting a 6mo and then yearly? Influenza


–Contraindications to flu vac? Egg allergy, also CI for yellow fever vac



•Due at 12mo? MMR, varicella, HepA (live vaccines not for kiddos<12mo)


–Contraindications to MMR? Neomycin or streptomycin allergy



•Due before age 2? Dtap and 2nd HepA (6mo after the 1st one)



•Due before kindergarden? Last IPV, Dtap, MMR and varicella



•Due at age 12? Tdap booster, meningococcal vaccine, and HPV (girls)

Childhood murmurs




Good characteristics (x2) vs Never normal (x2, with dx method)

Good characteristics =




Stills murmur-SYSTOLIC,less than II/VI, soft, vibratory and musical, heard best @ lower mid-sternum


Venous hum-best heard in anterior neck, disappears when jugular vein is compressed.




Never normal =–Anything DIASTOLIC. Anything greater than 2/6 murmur


GET AN ECHO



Newborn is cyanotic @ birth, O2 does not improve.


–Most common in?


–Associated murmur?


–Immediate tx?

Transposition of the Great Arteries




–Most common in? Infants of diabetic mothers




–Associated murmur? NONE! (unless PDA or VSD)




–Immediate tx? PGE1 to keep PDA patent

2y/o child who gets cyanotic and hypernea while playing, squats down.




- Associated murmur?


–Treatment?

Tetralogy of Fallot = VSD + RA hypertrophy + over riding aorta, pulmonary stenosis.




- Associated murmur? Harsh SEM + single S2 (VSD)




–Treatment? O2 and knee-chest position, surgical correction



Bipolar woman gives birth to a child w/ holosystolic murmur worse on inspiration.




–Associated arrhythmia?

Ebstein Anomaly- Tricuspid insuficciency 2/2 TV displacement into RV.




–Associated arrhythmia? Wolff-Parkinson-White

Cyanosis @ birth with holosystolic murmur, depends on VSD or ASD for life. EKG shows LVH.



Dx?


Tx?

Tricuspid atresia. Give PGE1 until surgery

Heart defect associated with DiGeorge syndrome. CXR shows ↑pulm blood flow and bi-ventricular hypertrophy.



dx = ?


tx = ?

Truncus arteriosis. Eisenmenger develops early. Do surg in 1st few weeks of life

#1 congenital heart lesion. Harsh holosystolic murmur over LL sternal border, loud P2.

Ventriculoseptal defect.

Ventriculoseptal defect.


–If II/VI in a 2mo old?


–Gold standard dx test?


–When is surgery indicated?


–Is louder better or worse?

Ventriculoseptal defect.


–If II/VI in a 2mo old? If no sxs, continue to monitor. Most close by 1-2yrs


–Gold standard dx test? Echo


–When is surgery indicated? FTT, 6-12mo w/ pHTN, >2yrs w/ Qp/Qs >2:1


–Is louder better or worse? Better. It means the defect is small. Most often membranous. More likely to spontaneouslyclose.

Loud S1 w/ fixed and split S2. Older child w/ exercise intolerance.

ASD

Most common defect in Down Syndrome baby. Fixed & split S2 + SEM w/ diastolic rumble.




tx = ?

Endocardial Cushion Defect




–Tx? @ risk for early Eisenmengers. Surgery before pHTN @ 6-12mo.

Continuous machine-like murmur w/ bounding pulses and wide pulse pressure.



–Associations?–Treatment?

PDA



–Associations? Prematurity, congenital rubella syndrome



–Treatment? If not closed by 1wk, give indomethacin or surgically close

Most common defect in Turner’s baby.

Coarctation of the Aorta



Decreased femoral pulses, “reverse 3 sign”, “notching” @ infrib border 2/2 incrcollateral. May see asymmetry in arm BPs

15 year old athlete complains of occasional palpations angina and dizziness. Last week he fainted during the 1st inning of his baseball game

HOCM

SEM, better w/ ↑ preload (squat, handgrip) louder w/ valsalva, standing, exercise (↓preload)

HOCM

tx HOCM




–Restrictions?

Beta blockers or CCB (no diuretics or dig-why?) Alcohol ablation or surgical myotomy




–Restrictions? No sports or heavy exercise!

7 year old girl presents with vague chest pain, pain in several different joints over the past few days, and a rash. Her ESR is elevated, and her EKG shows prolongation of the PR interval.




–Treatment?–Complications?

Acute Rheumatic Fever




–Treatment?Oral PCN (erythromycin) for 10 days, then prophylactic till 20




–Complications? Mitral stenosis, (then aortic or tricuspid involvment)

failure to thrive (<5th% weight & height), foul-smelling, bulky, floating stools, recurrent respiratory infections and nasal polyps.

Cystic Fibrosis



Signs at birth? Meconium ileus = dilated loops, “ground glass”, dx/tx with gastrograffin enema. Can also see rectal prolapse from chronic diarrhea

Cystic Fibrosis Genetic Defect & Inheritance?

AR, mutation on Chr7, CFTR protein

Cystic Fibrosis:



Diagnosis?



Treatment?


–For thick resp. secretions?


–For pneumonia?


–For pancreatic insuff?


–For electrolyte loss through skin?

Sweat test = >60mEq/L chloride is diagnostic


TX for thick resp secretions = DNAse (mucolytic), albuterol/saline nebs


for PNA = Most often pseudomonas or colonized w/ b. cepacia Tx w/ piperacillin + tobramycin or ceftazidime


for pancreatic stuff = Enzy replacement w/ meals + ADEK supplement


for electrolyte loss via skin = Adequate fluid replacement when exercising or when hot.

Asthma Tx •If pt has sxs twice a week and PFTs are normal?

Albuterol only

Asthma Tx If pt has sxs 4x a week, night cough 2x a month and PFTs are normal?

Albuterol + inhaled CS

Asthma Tx If pt has sxs daily, night cough 2x a week and FEV1 is 60-80%?

Albuterol + inhaled CS + long-acting beta-ag (salmeterol)

Asthma Tx If pt has sxs daily, night cough 4x a week and FEV1 is <60%?

Albuterol + inhaled CS + salmeterol + montelukast and oral steroids

Asthma Exacerbation Tx

exacerbation Tx = albuterol + PO/IV steroids





Normalizing PCO2 in an asthmatic means = ?

Normalizing PCO2 means impending respiratory failure -> INTUBATE.

Poss Complication of asthma tx

Allergic Brochopulmonary Aspergillus

A 12 y/o girl presents with a 2 day history of vomiting. For the last 4 weeks, she noticed weight loss, polyphagia, polydipsia and polyuria.Na = 130, Cl= 90, HCO3 = 15, glucose = 436.



Next best step?


Pathophys?



Long term treatment?


Diagnostic criteria?

Next best step? Start insulin drip + IVF. Monitor BGL and anion gap. Start K+. Bridge w/ glargine once tolerating PO.



Pathophys? T-cell mediated destruction of islet cells, insulin autoAb, glutamic acid decarboxylase autoAb



Long term treatment? Will need insulin tx.


Diagnostic criteria for diabetes? Fasting glc >125 (twice) / 2hr OGTT (75g) > 200 / Any glc > 200 + symptoms

A kiddo is peeing blood…•Best 1st test?

Urinanalysis

A kiddo is peeing blood w/ Dysmorphic RBCs or RBC casts?

Glomerular source

Definition of nephritic syndrome?

Proteinuria (but <2g/24hrs), hematuria, edema and azotemia

A kiddo is peeing blood 1-2 days after runny nose, sore throat & cough?

Berger’s Dz (IgA nephropathy). MC cause



The classic presentation (in 40-50% of the cases) is episodic hematuria which usually starts within a day or two of a non-specific upper respiratory tract infection (hence synpharyngitic) as opposed to post-streptococcal glomerulonephritis which occurs some time (weeks) after initial infection. Less commonly gastrointestinal or urinary infection can be the inciting agent.



IgA nephropathy is the most common glomerulonephritis throughout the world. Primary IgA nephropathy is characterized by deposition of the IgA antibody in the glomerulus.



In IgA nephropathy there is a slow progression to chronic kidney failure in 25-30% of cases during a period of 20 years.



A kiddo is peeing blood 1-2 weeks after sore throat or skin infxn?

Post-strep GN-smoky/cola urine, best 1st test is ASO titer. Subepithelial IgG humps

Hematuria + Hemoptysis?

Goodpasture’s Syndrome. Abs to collagen IV

Hematuria + Deafness?

Alport Syndrome. XLR mutation in collagen IV

Kidney Stones = Flank pain radiating to groin + hematuria.




•Best test?

CT.

Types of kidney stones



–Most common type?


–Kid w/ family hx of stones?


–Chronic indwelling foley and alkaline pee?


–If leukemia being treated w/ chemo?


–If s/p bowel resection for volvulus?

–Most common type? Calcium Oxalate. Tx w/ HCTZ



–Kid w/ family hxof stones? Cysteine. Can’t resorb certain AA.



–Chronic indwelling foleyand alkaline pee? Mg/Al/PO4 = struvite. proteus, staph, pseudomonas, klebsiella



–If leukemia being treated w/ chemo? *Uric AcidTx by alkalinizing the urine + hydration



–If s/p bowel resection for volvulus? Pure oxylate stone. Ca not reabsorbed by gut (pooped out)

Treatment of kidney stones

–Stones <5mm = Will pass spontaneously. Just hydrate


–Stones >2cm = Open or endoscopic surgical removal


–Stones 5mm-2cm = Extracorporal shock wave lithotropsy

A kiddo is peeing protein…•Best 1st test?

Repeat test in 2 weeks, then quantify w/ 24hr urine

Definition of nephrotic syndrome?

>3.5g protein/24hrs, hypoalbuminemia, edema, hyperlipidemia (fatty/waxy casts)

A kiddo is peeing protein… MC in kiddos?




Other random causes?

Minimal change dz-fusion of foot processesTreat with prednisone for 4-6wks. Most common complication is infection-Make sure immunized against pneumococcus and varicella.




Orthostatic= MC in school aged kids. Normal while supine, increased when standing.

If nephrotic patient suddenly develops flank pain?

Suspect renal vein thrombosis! 2/2 peeing out ATIII, protein C and S. Do CT or U/S stat!

An African American (or Mediterranean) kid w/ sickle cell disease comes in with




Swollen, painful hands and feet =?




Point tenderness on femur, fever, and malaise. = ?

Swollen, painful hands and feet =? Dactylitis. 2/2 necrosis of small bones




Point tenderness on femur, fever, and malaise. =? Osteomyelitis.
MC bug is salmonella (in sickle cell kids)





An African American (or Mediterranean) kid w/ sickle cell... Things seen on blood smear?

Things seen on blood smear?




↑retics, nl MCV sickles, targets, HJ bodies (autosplenectomy)

An African American (or Mediterranean) kid w/ sickle cell... Acute drop in HCT with ↓↓retics?

Aplastic crisis. Parvo B19

An African American (or Mediterranean) kid w/ sickle cell... Recurrent RUQ pain after meals

Pigment gallstones (any dark brown-to-black stone, consisting of calcium salts of bilirubin, phosphate, carbonate and other anions).




Do Chole.

An African American (or Mediterranean) kid w/ sickle cell... Respiratory distress & emergent tonsilectomy?

Waldyer Ring hyperplasia

Waldyer Ring hyperplasia





An African American (or Mediterranean) kid w/ sickle cell... Proteinuria and increased creatinine+ recurrent UTIs?

Kidney infarcts due to sickled RBCs

Sickle Cell




Most common cause of sepsis? (why does this make sense?)

Strep Pneumo (encapsulated bacteria)





encapsulated bacteria = ? (x4)

The polysaccharide capsule which surrounds bacterial species such as:




Haemophilus influenzae,


Streptococcus pneumoniae,


Neisseria meningitidis


and Salmonella typhi




is a potent virulence factor by protecting the bacteria from phagocytosis.

Sickle Cell pt Presents w/ fever, cough, chest pain, chills, and SOB?




tx?

Acute Chest syndrome. Pulmonary infarction. MC cause of death.




tx? O2, abx and exchange transfusion.

Sickle Cell pt w/ Acute confusion and focal neurologic deficits?




–Tx?




–Assessing risk?

stroke




tx = Exchange transfusion (NOT tPA!)




assessing risk = Transcranial doppler (v <200cm/sec), keep HbS <30%

Sickle Cell pt Vaccination and prophylaxis?

23-valent pneumococcal vaccine @ age 2 + H. flu and N. meningitides.




PCN prophylaxis from age 2mo until age 6yrs




(To prevent pneumococcal infection, the American Academy of Pediatrics recommends the use of penicillin prophylaxis in children with sickle cell disease under the age of five and in older children who have had a previous severe pneumococcal infection or have functional/surgical asplenia. )

If a Sickle Cell patient presents w/ fatigue and megaloblasticanemia?




tx?

Most likely folate deficiency. Has higher need 2/2 ↑retics




Hydroxyurea incr production of HbFTx infx aggressively and manage pain.




Bone marrow transplant cures, but has 10% post op mortality

Kids with Anemia




•When is anemia not a big deal?

Physiologic drop in H&H for 1st 2-3mo (HgF dies quicker than can be replaced by adult Hg).




Transient Erythroblastopenia occurs later (3mo-6yrs) = immune suppression after viral infxn (not B19)

Kids with Anemia: 18 mo kiddo, picky eater, drinks lots of cow’s milk. ↓H&H, MCV 75, ↓ferritin, ↑TIBC

Fe-deficiency. Tx w/ oral ferrous salts.

Kids with Anemia: 18 mo kiddo, eats a varied diet. Mom is Italian. ↓H&H, MCV 60, ↓RDW

Thalessemia. Varying degrees. Tx w/ transfusion & deferoxamine. Can see expanded medullary space



Hint = Low MCV (very low)

8 mo kiddo is irritable, has glossitis & FTT. Picky eater, drinks lots of goat’s milk

Folate-deficiency. See low serum (RBC) folate. Tx w/ daily folate.

Folate-deficiency. See low serum (RBC) folate. Tx w/ daily folate.




[formula can be based on goat's milk]

4 mo pale baby, normal plts, WBCs but hemaglobin is 4. Incr ADA (adenosine deaminase) RBC activity and low retics. Triphalangeal thumbs.



–Tx?

Blackfan-Diamond Anemia (a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which ar...

Blackfan-Diamond Anemia (a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Fanconi anemia, where all cell lines are affected resulting in pancytopenia.



This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate.)



tx = Corticosteroids, transfusions, stem cell transplant.

18mo baby presents w/ low plts, low WBCs and profound anemia. He has café-au-lait spots, microcephaly, and absent thumbs.




–Dx?


–Tx?


–Complications?

Fanconi Anemia [all cell lines are affected resulting in pancytopenia]

dx = Bone marrow shows hypoplasia, Cytogenetic studies for chr breaks.

tx = Corticosteroids, androgens, bone marrow transplant.

Complications = Incr risk for AML and other c...

Fanconi Anemia [all cell lines are affected resulting in pancytopenia]




dx = Bone marrow shows hypoplasia, Cytogenetic studies for chr breaks.




tx = Corticosteroids, androgens, bone marrow transplant.




Complications = Incr risk for AML and other cancers.

2 y/o baby presents w/ hyperactivity, impaired growth, abdominal pain and constipation


–Dx?


–Tx?


–Screening?

Lead Poisoning

–Dx? Venous blood sample, check lead level

–Tx? >45-tx w/ succimer. >70-admit and tx w/ EDTA + dimercaprol

–Screening? Test blood lead levels btwn 12-24 mo if low SES, live in old house (<1960).

Lead Poisoning




–Dx? Venous blood sample, check lead level




–Tx? >45-tx w/ succimer. >70-admit and tx w/ EDTA + dimercaprol




–Screening? Test blood lead levels btwn 12-24 mo if low SES, live in old house (<1960).





basophilic stippling



 These dots are the visualization of ribosomes and can often be found in the peripheral blood smear, even in some normal individuals.[1]

It is associated with several conditions, including:
Myelodysplastic Syndrome
Sideroblastic anemia
Lead...

These dots are the visualization of ribosomes and can often be found in the peripheral blood smear, even in some normal individuals.[1]




It is associated with several conditions, including:


Myelodysplastic Syndrome


Sideroblastic anemia


Lead poisoning (normocytic anemia)


Arsenic poisoning


Beta thalassemia (though some have questioned this)


Alpha-thalassemia,


HbH Disease


Hereditary Pyrimidine 5'-Nucleotidase Deficiency


Thrombotic thrombocytopenic purpura

A kiddo walks in with thrombocytopenia...15 y/o F recurrent epistaxis, heavy menses & petechiae. ↓plts only.




tx?

ITP.




Tx w/ IVIG for 1-2 days, then prednisone, then splenectomy. NO plts!!

A kiddo walks in with thrombocytopenia...15 y/o F recurrent epistaxis, heavy menses, petechiae, normal plts, ↑ bleeding time and PTT.




tx?

VWD. DDAVP for bleeding or pre-op. Replace factor VIII (contains vWF) if bleeding continues.

(likely family Hx)

  This is a synthetic analogue of vasopressin. It acts on storage sites in vascular endothelium, rapidly releasing stored vWF and Fa...

VWD. DDAVP for bleeding or pre-op. Replace factor VIII (contains vWF) if bleeding continues.




(likely family Hx)




This is a synthetic analogue of vasopressin. It acts on storage sites in vascular endothelium, rapidly releasing stored vWF and Factor VIII.The storage bodies are called Weibel-Palade bodies (Normally, von Willebrand Factor and factor VIII are bound together and circulate around as a soluble complex)




Thus, Desmopressin shortens APTT. But….It also does a bunch of other useful things:




Increases the density of platelet surface glycoprotein receptors Thus, increases platelet aggregation




Also, increase activity of tissue plasminogen activator antigen.




Desmopressin is the only drug useful for treatment of platelet dysfunction induced by clopidogrel,aspirin, NSAIDs in general, and uraemia.

A kiddo walks in with thrombocytopenia...7 y/o M recurrent bruising, hematuria, & hemarthroses, ↑ PTT that corrected w/ mixing studies*.




tx?

Hemophilia. 


If mild, tx w/ DDAVP, otherwise, replace factors.

Hemophilia.




If mild, tx w/ DDAVP, otherwise, replace factors.

A kiddo with thrombocytopenia... 1 wk old newborn, born at home, comes in with bleeding from the umbilical stump & bleeding diathesis




tx?

VitK def. ↓ II, VII, IX and X. Same in CF kid with malabsorbtion




Tx w/ FFP acutely + vitK shot

A kiddo walks in with thrombocytopenia... 9 y/o F with Wilson’s disease developed fulminant liver disease.




–1st factor depleted?


–2 factors not depleted?

1st factor depleted? VII, so PT increases 1st




2 factors not depleted? VIII and vWF [travel together] b/c they are made by endothelial cells.

A 3 y/o child is brought in with petechiae, abdominal pain, vomiting and lethargy. He had bloody diarrhea 5 days ago after eating hamburgers at a family picinic. Labs reveal thrombocytopenia and ↑creatinine




Most common cause? Treatment?

MCC = Hemolytic Uremic Syndrome due to E. Coli O157H7*, Shigella, Salmonella, Campylobacter

tx = NO platelets! Tx w/ aggressive nutrition (TPN) and early peritoneal dialysis. Don’t give abx for bloody diarrhea. Can ↑ risk of HUS 

MCC = Hemolytic Uremic Syndrome due to E. Coli O157H7*, Shigella, Salmonella, Campylobacter




tx = NO platelets! Tx w/ aggressive nutrition (TPN) and early peritoneal dialysis. Don’t give abx for bloody diarrhea. Can ↑ risk of HUS




[schistocytes in img]

A 5 y/o child is brought in with purpura on his legs and buttocks, abdominal pain, joint pain, current jelly stool. His smear appears normal, as are his coagulation studies and electrolytes. IgA and C3 are deposited in the skin.




Most common cause? Treatment?

Henoch Schonlein Purpura

Most common cause? Usually follows a URI

Treatment? Symptomatic treatment. Can use steroids for GI or renal dz

Henoch Schonlein Purpura




Most common cause? Usually follows a URI


[hence IgA and C3 deposition]




Treatment? Symptomatic treatment. Can use steroids for GI or renal dz

New onset seizure, ataxia and HA worse in the AM with vomiting for a month.




– Most common = ?


– 2nd most common, worse prognosis = ?

Brain tumor. Most likely infratentorial




– Most common = Pilocytic astrocytoma of cerebellum [in children most tumors are infratentorial]. Resect. ~90% survive.




–2nd most common, worse prognosis = Medullobastoma [small blue-cell tumor, causes non-communicating hydrocephalus. infrantentorial]. Vermis, obstruct 4th V

Adolescent with height in 5th%, w/ bitemporal hemianopsia. See calcifications in sella turcica

Craniopharyngioma. Suprasellar [A remnant of Rathke’s pouch]

2 year old hypertensive child with asymptomatic abdominal mass




–Associations?–Best test?–Treatment?

Wilm’s tumor [don't look sick]




–Associations? Aniridia, GU anoms, Hemihypertrophy, Beckwith-Weidemann




–Best test? Abdominal CT. Do CXR to check lung involvement




–Treatment? Surgery chemo, rads

4 year old with jerking movements of eyes and legs, bluish skin nodules and an tender abdominal mass.

Neuroblastoma [dancing arms and legs, tender abdominal mass]

–Diagnostic tests?  ↑urine homovanillic or vanillylmandelic acid.

(blueberry muffin = blueish skin nodules)

Neuroblastoma [dancing arms and legs, tender abdominal mass]




–Diagnostic tests? ↑urine homovanillic or vanillylmandelic acid.




(blueberry muffin = blueish skin nodules)

3 year old girl w/ a limp & left leg pain, T = 99.9, HSM (hepatosplenomegally), petechiae, & pallor. Cells are TdT +.


–Best test?


–Treatment?


–Poor prognostic factors?

ALL

–Best test? Bone marrow biopsy + if >30% lymphoblasts
–Treatment?  VDP [

Vincristine / Dexamethasone or prednisone / Doxorubicin (Adriamycin), daunorubicin, or a similar anthracycline drug]+ CNS tx w/ intrathecal methotrexate
–...

ALL


–Best test? Bone marrow biopsy + if >30% lymphoblasts


–Treatment? VDP [Vincristine / Dexamethasone or prednisone / Doxorubicin (Adriamycin), daunorubicin, or a similar anthracycline drug]+ CNS tx w/ intrathecal methotrexate


–Poor prognostic factors? <1 or >10 yrs, >100K WBC

14 y/o boy w/ enlarged, painless, rubbery nodes, drenching fevers, and 10% weight loss.




–Best test?


–And then?


–Treatment?

Hodgkin Lymphoma 


–Best test? 

Excisional biopsy.


–And then? Staging CT or laparoscopy. (determines tx)
–Treatment? Chemo + Rads. 90% cure if stage I or II

Hodgkin Lymphoma


–Best test? Excisional biopsy.


–And then? Staging CT or laparoscopy. (determines tx)


–Treatment? Chemo + Rads. 90% cure if stage I or II

7 year old girl with non-productive cough and large anterior mediastinal mass on CXR.


–Best test?


–Treatment?

Non-Hodgkin Lymphoma: [often occur in mediastinum, present w/ cough 2/2 mass effect]




– Best test? Biopsy of mass, bone marrow bx for staging


– Treatment? Surgical excision if abdominal tumor. Can use anti-CD20 if B-cell tumor. Rads for some.

2y/o w/ a fever to 105, 3 days later gets a pink, mac-pap rash on trunk arms and legs.

Roseola-HHV6

Roseola-HHV6





2y/o w/ a low grade fever, lacy reticular rash on cheeks and upper body (spares the palms/soles)–Who is this bad for?

5thDisease/ErythemaInfectiosum-Parvovirus B19

bad for - Preggos, sickle cell, thalessemia 

5thDisease/ErythemaInfectiosum-Parvovirus B19




bad for - Preggos, sickle cell, thalessemia

Fine, mac-pap desquamating rash begins on chest and spreads to neck, trunk, & extremities+ strawberry tongue. Sore throat 1-2wks prior.




–Treatment

Scarlett Fever (group A strep)

PCN prevents rheumatic fever. (won’t help reduce changes of APSGN)

Scarlett Fever (group A strep)




PCN prevents rheumatic fever. (won’t help reduce changes of APSGN)

Cough, runny nose, fever w/ macular rash begins behind ears & spreads down. Gray spots on the buccal mucosa.




•Tx?

Measles (paramyxovirus)




Tx? Vitamin A + supportive care

Sore throat, joint pain fever w/ pinpoint rash on the face and spreads down. Rose spots on the palate.



•Complications?

Rubella (paramyxovirus)



complications = Congenital rubella syndrome [Congenital rubella syndrome (CRS) is an illness resulting from rubellavirus infection during pregnancy. When rubella infection occurs during early pregnancy, serious consequences—such as miscarriages, stillbirths, and a constellation of severe birth defects in infants can result including Sensorineural deafness (58% of patients)Eye abnormalities—especially retinopathy, cataract, and microphthalmia(43% of patients)Congenital heart disease—especially pulmonary artery stenosis andpatent ductus arteriosus (50% of patients)]

Baby with poor feeding. Vesicles in the mouth on palms and soles + rash on buttocks

Hand-Foot-and Mouth Disease (Coxsackie virus A16)

Hand-Foot-and Mouth Disease (Coxsackie virus A16)





16 year old M with swollen parotid glands, fever & HA.




•Complications?

Mumps (paramyxovirus)




complications = Orchidis and sterility

6y/o kid from central PA, went camping. Had fever.




–Complications?–Treatment?

Lyme Disease. Borrelia burgorferi




– Complications? Arthritis, heart block, meningitis, Bells




–Treatment? Amox for this kid. Doxy if >8.

6 y/o kid from coastal NC, went camping. Had fever, myalgias, abd pain.



–Complications?


–Treatment?

Rocky Mountain Spotted fever. Rickettsia rickettsii



complication = Vasculitis and gangrene



tx = Doxy no matter what age

8 y/o kid, multiple excoriations on arms. Itchy at night.



–Treatment?

scabies!

tx = 5% permetrin for the whole family!

scabies!



tx = 5% permetrin for the whole family!

Honey-colored crusted plaque on face.




–Treatment?

Impetigo. MC bug is staph if bullus.




tx = Topical muciprocin if localized



Inflamed conjunctiva and multiple blisters. Nikolsky’s +



–Treatment?

Staph Scalded Skin Syndrome From exfoliative toxin



Tx w/ IV ox or nafcillin

Meningitis




Most Common bugs?




In young & immune suppressed?




In pplw/ brain surg?




other random possibilities (x2)

Most Common bugs? Strep Pneumo, H. Influenza, N. meningitidis (tx w/ Ceftriaxone and Vanco)




In young & immune suppressed? Add Lysteria. (tx w/ Ampicillin)




In pplw/ brain surg?Add Staph (tx w/ Vanco)




other random possibilities (x2) = TB (RIPE + ‘roids) and Lyme (IV ceftriazone)

Meningitis




Best 1st step?




Diagnostic test?




Roommate of the kid in the dorms who has bacterial meningitis and petechial rash?

Best 1st step? Start empiric treatment (+ steroids if you think it is bacterial)




Diagnostic test? Then, check CT if signs of increased ICP. Then, do an LP: +Gram stain, >1000WBC is diagnostic. High protein and low glucose support bacterial




Roommate of the kid in the dorms who has bacterial meningitis and petechial rash? Rifampin!!





2 y/o w/ fever to 102, tugging on his right ear. Patient’s tympanic membrane is red and bulging.–Most sensitive dx test?


–RF?


–Treatment?


–Complications?

Otitis Media




Most sensitive dx test? Limited mobility on insufflation or air-fluid level





RF? ↓SES, Native Americans, formula fed, tobacco smoke, around kids




Treatment? Amox or azithromycin for 10days. If no improvement in 2-3 days, switch to amox-clav




Complications? Effusion-place tubes if bilat effusion >4mo or if bilateral hearing loss.



12y/o in summer swim league has pain when adjusting his goggle straps behind his ear. Thick exudates coming from the ear and tender posterior auricular nodes




–Treatment?–Complications?

Otitis Externa




–Treatment? Topical ciprofloxacin




–Complications? Malignant external otitis can invade to temporal bone leading to facial paralysis, vertigo. Need CT and IV abx. May need surgery

7 y/o w/ exudative pharyngitis w/ tender cervical lymph nodes and fever to 102



–Best 1st test?


–If negative?


–Treatment?

Sounds like GABHS Pharyngitis



–Best 1st test? Rapid strep antigen


–If negative? If clinical suspicion ↑ (ie, no viral sxs) –do culture


–Treatment? PCN or erythromycin. (prevent RF)

A child presents w/ “muffled voice”, stridor and refuses to turn her head to the left.


–Treatment?


–Complications?

Retropharyngeal abscess




tx = I&D for C&S. GAS + anaerobes. 3rdgen ceph + amp or clinda




complications = Retropharyngeal space communicates w/ mediastinum

A young child presents w/ “hot potato voice” and upon throat exam her uvula is deviated to the right 2/2 a bulge.




–Treatment?


–Indications for tonsilectomy?

Peri-tonisillar abscess [used for a defect of resonance in which the speech has a muffled quality, similar to a person speaking with a hot potato in the mouth]




tx = Aspiration or I&D + abx, tonsillectomy if recurrent.




–Indications for tonsilectomy? >5 episodes of strep/year for 2 years or>3 episodes/year for 3 years.

an older child presents w/ a sore throat fever, fatigue, generalized adenopathy and splenomegaly (anterior and posterior cervical nodes).

Think Epstein-Barr virus (mono)

EBV + ampicillin or amoxicillin = ?

Maculopapular Rash (immune mediated vasculitic)

EBV




Diagnosis?




Treatment?





Precautions?

dx = Blood smear shows lymphocytosis w/ atypical lymphs + Heterophile antibody (Monospot) test.




tx = Rest and symptomatic therapy.




precautions = Splenic hemorrhage or rupture. (most in 2nd week) No contact sports until splenomegaly resolves.

1 y/o w/ fever to 100.5 & “barking” cough and loud noises on inspiration.


–Most common bug?


–X-ray buzzword?


–Treatment?

croup 

common bug =  parainfluenza virus
xray buzzword = steeple sign
tx = mist, epinephrine neb, steroids

croup




common bug = parainfluenza virus


xray buzzword = steeple sign


tx = mist, epinephrine neb, steroids



2 y/o w/ fever to 104 & drooling w/ intercostal retractions and tripod position.


–Most common bug?


–X-ray buzzword?


–Next best step?


–Treatment?

Epiglottitis

mc bug = H. flu (unimmunized). (other = strep pyo, strep pneumo, staph)

x-ray buzzword = "tumbprint sign"

next best step = go to OR and intubate

Tx = anti-staph abx + 3rd gen. cephalosporin

Epiglottitis




mc bug = H. flu (unimmunized [immigrant]). (other = strep pyo, strep pneumo, staph)




x-ray buzzword = "tumbprint sign"




next best step = go to OR and intubate




Tx = anti-staph abx + 3rd gen. cephalosporin



Kid comes in w/ cough productive of yellow-green sputum, runny nose and T = 100.8. Lung exam only reveals some coarse rhonchi.




–Next best step?

Acute Bronchitis [funky sputum, runny nose, low grade fever, but no abnormal signs on lung exam= acute bronchitis. As long as no abnormal lung findings, would do a lung exam]




–Next best step? Supportive tx w/ anti-pyretic, tussives, histamines.

Kid comes in w/ similar sxs but decrease breath sounds and crackles in the LLL and WBC = 16K.–




Next best step?


–MC cause in neonates <28days?


–MC cause 1mo-3mo?


–MC cause in kids 4mo-5y/o?


–MC cause in kids >5y/o?

Pneumonia




Next best step? CXR to confirm. Typical vs atypical.




–MC cause in neonates <28days? GBS, E. Coli, Lysteria




–MC cause 1mo-3mo? C. trachomatis, RSV, paraflu, strep pneumo




–MC cause in kids 4mo-5y/o? VIRAL! (RSV) then s. pneumo




–MC cause in kids >5y/o? Mycoplasma, s. pneumo

Specific findings for chlamydia pneumonia?

Staccato cough,




eosinophilia

9mo infant w/ runny nose, wheezy cough, T = 101.5, and RR = 60. Retractions are visible and pulse ox is 91%.




–Most common bug?


–CXR findings?


–Treatment?


–Who needs vaccine?

Bronchiolitis [RSV bronchilitis]




–Most common bug? RSV. Confirm w/ swab





–CXR findings? Hyperinflation w/ patchy atelectasis




–Treatment? Hospitalize if respiratory distress. Albuterol nebs. NO steroids




–Who needs vaccine? Palivizumab for premies, CHD, lung dz, immune dz

9 mo infant with severe coughing spells with loud inspiratory breaths and vomiting afterwards. 2 weeks ago she had runny nose and dry cough.



–Responsible bug?


–Lab findings?


–Treatment?


–*Family members and kids in her daycare?

Whooping Cough



–Responsible bug? Bordetella pertussis



–Lab findings? CBC shows lymphocytosis (weird for a bacteria)



–Treatment? Erythromycin for 14 days



–*Family members and kids in her daycare? Erythromycin for 14 days (extremely contagious!)

In neonates-sxs are vague-fever, dehydration, fussy.




Before age 1, boys are more likely than girls

UTI




If fever is present its pyelo. Cystitis has NO fever

Anatomic risk factor for UTI?

Vesicoureteral reflux. Need abx prophylaxis

Diagnosis of UTI?




–Need ultrasound if:

Clean catch or cath sample, UA and Culture (>10K CFU)




Need ultrasound if:Any febrile UTI for anatomy, abscess or hydronephrosis

Treatment of UTI?

PO trim-sulfa or nitrofurantoin

Treatment of pyelo?

14 days of IV ceftriaxone or amp & gent

Who needs VCUG?

Uti in All males, females <5,


any pyelo,


females >5 w/ 2nd UTI

Role of Tc-labeled DMSA scan w/ UTI?

It is most sensitive and accurate study of scarring and renal size, but is not first line.

Kid with a limp•Most common cause overall?

Trauma (not any of the special things we learn about)

18mo F w/ asymmetric gluteal folds on exam.


–RF?


–Dx and Tx?

Developmental hip dysplasia


–RF? 1stborn Females, +FHx, breech position


–Dx and Tx? clunk (click) on Barlow. U/S of hip if unsure.


Tx w/ Pavilk harness, surg





5 y/o M initially w/ painless limp now has pain in his thigh

Legg-Calve’-Perthes Disease. (avascular necrosis).

5 y/o M initially w/ a cold 1wk ago now presents w/ a limp & effusion in the hip. X-rays are normal and ESR is 35 (↑), T = 99.8, WBCs = 10K.




–Next best step?

Transient Synovitis




–Next best step? Bed rest for 1 wk + NSAIDS

14 y/o lanky M w/ nagging knee pain and decreased ROM of the hip on exam.




–Tx

SCFE. Remember they’re not always fat!




–Tx = Surgically close and pin the epiphysis to avoid osteonecrosis.

14 y/o basketball player has knee pain and swelling of the tibial tubercle

Osgood-Schlatter. Osgood–Schlatter disease (also known as apophysitis of the tibial tubercle or OSD)



Overuse injury from jumping

12 y/o F w/ 2 wk history of daily fevers to 102 and a salmon colored evanescent rash on her trunk, thighs and shoulders. Her left knee and right knee are swollen.




–Good Prognostic factor?


–Bad Prognostic factor?


–Treatment?

JRA [JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants]




–Good Prognostic factor? +ANA


–Bad Prognostic factor? +RF, also polyarticular and older age @onset


–Treatment? [like adult RA]


1st line = NSAIDs,


2nd line = methotrexate,


3rd= steroids

2 y/o F w/ a 2 wk history of daily fevers to 102 and a desquamating rash on the perineum. She has swollen hands and feet, conjunctivitis and unilateral swollen cervical lymph node.




–Other lab findings?


–Best 1st test?


–Treatment?


–Most serious sequellae?

Kawasaki dz




–Other lab findings? ↑ plts (wk2-3), ↑ urine WBC, ↑LFTs, ↑CSF protein




–Best 1st test? 2D echo and EKG. Repeat the Echo after 2-3wks of tx




–Treatment? Acute = IVIG + high dose aspirin. Then aspirin + warfarin [despite Reyes syndrome risk]




–Most serious sequellae? Coronary artery aneurysm or MI



“Onion skinning” on xray.




tx ?

Ewing Sarcoma (typically affects the middle of long bones)

If <10, more likely. M>F. More common if hx of retinoblastoma or previous radiation. “Onion skinning” on xray. (layers of periosteal development). 

–Treatment? Rads and/or surgery

Ewing Sarcoma ["ew" = onion] (typically affects the middle of long bones)




If <10, more likely. M>F. More common if hx of retinoblastoma or previous radiation. “Onion skinning” on xray. (layers of periosteal development).




–Treatment? Rads and/or surgery

“sunburst” and “Codman’s triangle” on xray.




–Treatment?

Osteogenic sarcoma (typically the end of long bones)
If >10, more likely. M>F. See “sunburst” and “Codman’s triangle” on xray.

tx = Chemo and/or surgery 

Osteogenic sarcoma (typically the end of long bones)


If >10, more likely. M>F. See “sunburst” and “Codman’s triangle” on xray.




tx = Chemo and/or surgery

More diffuse bone pain in a patient w/ petechiae, pallor and increased infections

leukemia [cancer involvement in marrow]




Don’t forget bone pain can be presenting sx for leukemia

This morning, a 1 y/o develops a fever to 102.4. Four hours later, the parents bring her in after she has a 3-4 minute tonic-clonic seizure.




–Next best step?

Febrile Seizure




–Next best step? Give acetamenophen. NO ↑risk for epilepsy

An 8 year old boy gets in trouble in school because he is always “staring into space”. These episodes last only seconds, have lip smacking, and he goes right about his business after they are done.




–Common EEG finding?


–Best Tx?

Absence Seizure




–Common EEG finding? 3Hz spike and wave discharge


–Best Tx? Ethosuxamide or valproic acid

A 6mo old is brought in for multiple symmetric contraction episodes of neck, trunk and extremities that occur in spells.


–Dx?


–Common EEG finding?


–Best Tx?

Infantile Spasms



Common EEG finding? Hypsarrhythmia = asynchronous, chaotic, bilat



–Best Tx? ACTH. Prednisone is 2ndline.

8y/o w/ difficulty w/ balance while walking, no DTRs, bilateral Babinski and “explosive, dysarthric speech”.


–Most common cause of death?

Friedrich Ataxia AR, trinuc repeat




death = HOCM leading to CHF.

2 y/o w/ gait disturbance, loss of intellectual fxn, nystagmus and optic atrophy. Cresylviolet displays metachromatic staining.



–Pathophys?

Metachromatic leukodystrophy = AR



–Pathophys? Deficiency of arylsulfatase A accum cerebroside sulfate

12 y/o w/ decreased school performance, behavior changes, ataxia, spasticity, hyperpigmentation, ↑K, ↓Na, acidosis.



–Prognosis?

Adrenoleukodystrophy XLR



Prognosis? Death w/in 10 years

9mo who had previously been reaching milestones starts to lag. Seizures, hypotonia, cherry red macula.




–Pathophys?

Tay-Sachs = XLR




–Pathophys? Def of hexosaminidase A accum GM2

3mo infant lays in the “frog-leg” position, <5th% 2/2 feeding difficulties, hypotonic, fasiculations of the tongue and absent DTRs.


–Dx?


–Prognosis?

SMA 1-Werdnig Hoffman Disease




Most die before age 2

6y/o is brought in 2/2 “clumsiness” and frequent falls. The lower leg has decreased muscle bulk and appears “stork-like”. There are multiple small injuries on the hands and feet. You notice pes cavus and claw hand.




–Dx?


–Tests?


–Treatment?

Marie-Charcot-Tooth Disease




–Tests? Decreased motor/sensory nerve vel, sural nerve bx. *CPK is normal




–Treatment? Stablize ankles w/ surgical fusion. Usually normal lifespan and most remain ambulatory.



anuria w/ distended abdominal mass in first few DOL = ?




tx?

posterior urethral valves




tx = catheter followed by surgical correction