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1

Associations w/ Down syndrome?

- Cardiac: Endocardial cushion defects, VSD, ASD
- Duodenal atresia (double bubble w/ bilious vomiting)
- Hirschsprung disease (lack of Auerbach's plexus in colon w/ chronic contraction of colon)
- Imperforate anus
- Celiac's disease
- Hearing loss (conductive loss from chronic OM)
- Hashimoto's thyroiditis (hypothyroidism)
- Leukemia (ALL)

2

Associations w/ Turner syndrome?

Short stature
Webbed, short necks w/ cystic hygromas
Coarctation of aorta
Bicuspid aortic valve
Horseshoe kidney
Amenorrhea
Broad chest w/ wide-spaced nipples
Short 4th finger and toe

3

Child sick for >3 days w/ fever, cough, not drinking well and not getting better?

Suspect ear infection (AOM)

4

Centor criteria?

What are they used for?

Used to determine when to test & treat for Strep throat
- Tonsil exudates
- Tender anterior cervical lymphadenopathy
- Fever
- ABSENCE of cough
- Deep-throated voice

0-1: no Abx or Strep test needed
2-3: throat culture & Abx only if culture is (+)
4+: give empiric Abx (AMOXICILLIN)

5

3 signs for AOM?

DOC for AOM?

1) Middle ear effusion (non-movable TM)
2) Middle ear inflammation (TM is gray, yellow, hemorrhagic)
3) S/S relating to ear --> irritability, otalgia (ear pain)

DOC: Amoxicillin
- If fails, use Augmentin, ceftriaxone

Complications: mastoiditis (behind ear becomes red/swollen), facial nerve palsy, temporal bone osteomyelitis

6

Child has fever of >5 days + irritable w/ a rash, B/L non-exudative conjunctivitis, dry cracking lips, redness and swelling in extremities. What do you have to consider? What are common complications?

Kawasaki disease

- Acute vasculitis of medium-sized vessels in children b/w ages 6mo-5yo
**Coronary artery dilation and aneurysms can occur

7

Clinical signs of Kawasaki disease?

Lab criteria?

Tx?

5 day fever w/ 4 of 5 below:
1) Rash (polymorphous exanthema)
2) B/L, bulbar, non-exudative CONJUNCTIVITIS
3) Changes in lips + oral mucosa (dry, CRACKING, etc)
4) Changes in extremities (edema, erythema, induration)
5) U/L cervical lymphadenopathy (least common)

High ESR/CRP + evidence of 3 below:
1) Leukocytosis
2) Anemia
3) Thrombocytosis
4) Hypoalbuminemia
5) High ALT

Tx:
1) IV IgG
2) ASPIRIN until fever resides --> ONLY instance where you can give children aspirin!

8

Only instance where you can give children aspirin? Why?

Kawasaki disease

Normally can cause Reye syndrome --> acute liver failure in children (micro-vesicular centrilobular necrosis)

9

New onset truant behavior, depression, or euphoria in adolescents or declining school grades?

Substance abuse

10

Signs of Trisomy 18 (Edwards)?

Heart defect with Edwards?

*Closed fist w/ index finger overlapping 3rd digit and 5th digit overlapping 4th digit
*Rocker-bottom feet
Microcephaly (small head)
*Micrognathia (small jaw)
Cleft lip/palate
Single umbilical artery
Small pelvis

*VSD

11

Signs of Trisomy 13 (Patau)?

Cutis aplasia (missing part of skin & hair)
Polydactyly (>5 digits per extremity)
Holoprosencephaly (failure of forebrain growth)
VSD
Omphalocele
Hypersensitive to atropine & pilocarpine

12

VATER syndrome?

Vertebral problems
Anal anomalies
Trachea problems
Esophageal abnormalities
Radius/Renal abnormalities

13

Recent newborn still has part of umbilical cord stump attached well after birth. What do you suspect?

Leukocyte Adhesion Deficiency (LAD)

- Disorder of leukocyte adhesion & chemotaxis
- Delayed wound healing, recurring sinopulmonary infections
- Neutrophilic common (can't extravasate out of vasculature to tissues)

14

Both humoral (B cell) & cellular (T cell) deficiencies?

SCID

- Thymus shrinks in size
- Recurring infections

15

Decreased T cell production due to 22q11 deletion?

DiGeorge syndrome

*Thymus & parathyroid absent!
- Velocardiofacial defects (VSD, ToF)
- Atypical facies (prominent nose, small mandible)
- Cleft palate

16

Syndrome associated w/ behavior problems (immaturity, insecurity), developmental delay (speech, language), & physical findings (gynecomastia, hypogonadism, long limbs)?

What hormone findings are present?

Klinefelter syndrome

*XXY male --> gynecomastia, long limbs, hypogonadism
*Common to see verbal cognitive delays (reading, spelling, math, speech)

- Consider for all boys w/ MR, psychosocial/school/adjustment problems

Hormones: INCREASED gonadotropin, estradiol, FSH, LH

17

Most common form of INHERITED mental retardation?

Fragile X syndrome (CGG repeat)

- Boys w/ MR
- Long face, prominent forehead, protruding ears
**Macroorchidism
**Large jaw

18

What vital vitamins are not in breast milk?

Vitamin D & K

If taking goat's milk or mom is a vegan --> supplement folate & Vit B12

19

How do Vit C & Calcium affect iron absorption?

Vit C = increased Fe absorption
Ca = decreased Fe absorption

20

Autosomal dominant condition w/ short height, leg bowing, waddling gait; normal Ca, PO4, ALP; irregular lone bone mineralization?

Schmid metaphyseal dysostosis

21

What is Somogyi phenomenon?

Nocturnal hypoglycemic episodes seen as night terrors, HA, early morning sweating --> then presents several hours later w/ hyperglycemia

Switch from hypo --> hyperglycemia due to hormones released during sleep

22

What is the "honeymoon" phase in diabetes?

Period generally right after diagnosis where insulin requirements decrease and appear to no longer be diabetic --> however, after a few months, the insulin dependence returns and often worsens

23

Name common complications that must be considered in sickle cell disease?

*Pain crises
*Splenic enlargement --> splenic sequestration
- Overtime, spleen auto-infarcts until completely dead
*Vital to give vaccines for encapsulated organisms (SHiNE SKiS)
*Acute chest syndrome
*Acute stroke
*Priapism
*Gallstone risk (pigmented)

24

Describe the Maintenance Fluid calculations for children. Use 4-2-1 rule.

0-10kg: 4mL/kg/hr
10-20kg: + 2mL/kg/hr
>20kg: + 1 mL/kg/hr

OR

Daily (24hr) requirements
0-10kg: 100mL/kg/day (avg 80-140kcal/kg/day)
11-20kg: 1000mL + 50mL/kg for every kg over 10kg
>20kg: 1500mL + 20mL/every kg above 20kg up to a MAXIMUM daily volume of 2400mL

Breast milk or formula: 20kcal/30mL or 1 oz

**In an infant, they need an average b/w 120-210mL/kg/day of formula or breast milk (based on avg 80-140 kcal/kg/day)

25

Triad of congenital effects of rubella?

1) Patent ductus arteriosis
2) Cataracts
3) Sensorineural deafness

26

Triad of congenital toxoplasmosis effects?

1) Chorioretinitis
2) Hydrocephalus
3) Intracranial calcifications

More likely to present as learning & visual difficulties in 2nd & 3rd decades of life

27

Congential complications of CMV?

*Remember: MR DICS
Microcephaly (small head)
mental Retardation
Deafness
Intracranial Calcifications
Seizures (from intracranial calcifications)

28

Signs of congenital herpes?

Depends on which of the 3 forms the baby acquires
1) Disseminated: rash, encephalitis, resp & hepatic failure
2) CNS: seizures, poor feeding, lethargy
3) Skin-eyes-mouth: vesicles in eyes, mouth, skin

29

Effects of congenital syphilis?

Immediate: rash on palms & soles, rhinitis, hemolytic anemia

Long term: deafness, frontal bossing, Hutchinson teeth, saddle nose, saber shins

30

Infant w/ staccato cough, increased respiratory effort, afebrile and eye discharge?

Chalmydial pneumonia

31

Signs of organophosphate poisoning?

Reversal?

DUMBBELS (diarrhea, urination, miosis, bradycardia, bronchorrhea, emesis, lacrimation, salivation)

DOC: atropine or pralidoxime

32

Premature baby with blood stools/diarrhea, vomiting, fever and abdominal distention. On abd X-ray, air is seen in the abdominal wall (pneumatosis coli) and air is seen in the portal venous system. What do you suspect?

Necrotizing enterocolitis

33

2 year old child with intermittent, PAINLESS rectal bleeding. What must you consider?

Meckel's diverticulum

Rule of 2's
2 feet from ileocecal valve
2 inches long
2 yo child
2 types of tissue present (gastric tissue in intestine --> secrete gastric acid causing irritation of intestine wall --> bleeding results)

34

Most common cause of acute stridor in children?

Foreign body aspiration (most common in R lung b/c R mainstem bronchus more vertical)
- Acts as ball-valve: lets air in during inspiration, but can't get out during expiration
- Need both upright PA inspiratory & expiratory films
*R lung will be hyper-inflated during expiration
- both lungs look normal during inspiration

35

Child has stridor. What causes do you need to consider?

Foreign body aspiration, anaphylaxis, epiglottitis, croup, bacterial tracheitis

*Stridor: high-pitched harsh noise when air passes by partially obstructed airway (inspiration)

36

Child w/ rapid onset and progression fever, sore throat, & stridor. He appears very sick and is leaning forward with his hands on his legs and is drooling. What is it? What is most common organism? Management?

Epiglottitis

most commonly S. pneumonia, S. pyogenes, S. aureus
non-immunized kids: H. influenzae

Mgmt
1) Secure the airway (do NOT agitate child) --> take to OR for controlled ET intubation
2) Give IV broad spectrum Abx & steroids for 7-10 days

*On lateral neck X-ray can see "thumb print" sign (enlarged epiglottis)

37

Child w/ 3 day history of fever, runny nose, sore throat. Today she developed a cough that at times sounds like a barking cough w/ stridor. What are you thinking? What is organism? Management?

Croup

Paramyxovirus

Mgmt
1) Oral steroids (dexamethasone) to decrease swelling
2) symptomatic relief

*Neck X-ray can see "steeple" sign (narrowing of trachea from inflammation of sub-glottic structures)

38

Most common cause of blood in the urine in children usually after a respiratory infection?

IgA Nephropathy (Burger's disease)
*Recurrent URI followed w/ hematuria

39

Most common cause of renal failure in children?

MOA?

Signs?

Mgmt?

Hemolytic Uremic Syndrome

MOA: E.coli produces Shiga-like toxin --> binds to endothelial cells in kidney --> damage cells, releasing pro-coagulant factors --> platelet aggregation and decreases platelet count --> clots form --> shear RBC's and result in hemolytic anemia

Triad
1) Uremia (increased BUN)
2) Thrombocytopenia (low platelets)
3) Microangiopathic hemolytic anemia (schistocytes, low Hgb)

*Do NOT give Abx! They will lyse E. coli --> it's a G(-) organisms and lysis will release MORE endotoxin --> further damage!

40

Most common cause of hematochezia in infants, children, and teens?

Anal fissures

41

Newborn w/ immediate respiratory distress, scaphoid abdomen (anterior abdominal wall sunken inward), cyanosis & heart sounds only heard on R side of chest?

Diaphragmatic hernia

42

When a baby is calm and not crying, she starts to turn blue. When the baby cries, she is pink in color. Why? What's the mechanism?

Choanal atresia: back of nasal passage (choana) is blocked by a malformation

*Babies are obligate nose-breathers at REST and when they cry, they breathe through their mouths. This is why they are pink when crying (good oxygenation) and blue when calm (nose breathing)

43

Most common childhood movement or posture disorder?

Cerebral palsy

A result of antenatal insults (one-time CNS insult)

*Suspect when a child fails to meet developmental milestones

44

A child has recurrent respiratory infections with persistent coughing & wheezing, but no improvement when given asthmatic meds. You also notice clubbing on both hands. She has poor growth and foul-smelling stools. What are you considering? Potential complications?

Cystic Fibrosis
**Meconium ileus = CF

*Abnormality in CFTR protein (F508 deletion of phenylalanine in chromosome 7) --> normally a cAMP-activated Cl channel
- Low Cl secretion and increased reabsorption of Na & H2O in intestines causes dehydration and thick secretions

3 things to look for:
1) Chronic obstructive pulmonary disease (bronchiectasis, bacterial pneumonia from Pseudomonas, clubbing, nasal polyps)
2) Pancreatic exocrine deficiency (maldigestion, fat soluble vitamin deficiencies, meconium ileus, biliary cirrhosis)
*Peripheral neuropathy & hemolytic anemia (vit E)
*Night blindness (vit A)
*Mucosal bleeding & increased PT (vit K)
3) Abnormally HIGH sweat electrolyte test
- Confirm w/ DNA testing

**Early childhood signs: meconium ileum, persistent productive cough w/ sinus infections, steatorrhea, poor wt gain
**Prenatal ultrasound can show meconium peritonitis, bowel deletion, absent gallbladder
**Men can have azoospermia & NO vas deferens

45

Nasal polyps, absent gallbladder, meconium ileus, recurrent resp infections all characteristic of what?

Cystic Fibrosis

46

Child w/ fever, joint pain, limp, anemia, splenomegaly, and petechiae. What do you HAVE to consider?

Leukemia!

*In children, ALL most common
*Commonly mistaken for Juvenile RA
*Confirm w/ bone marrow aspirate (>25% blasts)

47

What congenital disorder has high association w/ ALL?

Down syndrome (both ALL and Down share association w/ Chromosome 21)

48

Child who recently overcame a viral illness develops generalized bruising and petechiae, especially in the legs. What do you suspect? What labs do you want? Tx?

Idiopathic Thrombocytopenic Purpura (ITP)
- also consider Henoch Schonlein Purport

CBC: normal Hgb, Hct, WBC
**LOW platelets

Can give steroids and if severe IV IgG

49

What 2 vaccines will give you a delayed rash 1-2 weeks after receiving them?

What vaccine will give you a delayed single joint arthritis that resolves after a few days?

MMR & Varicella


MMR - causes a postviral synovitis that resolves after a few days

50

What bug are you suspecting if someone has both ear infections (otitis media) & conjunctivitis?

H. influenzae (NOT type B)

51

How do you differentiate b/w CSF & boogers (basilar skulll fracture, trauma, etc.)?

CSF will have increased GLUCOSE compared to boogers

52

Illness where you see high fever and spots in the mouth first before other signs?

What vitamin can be helpful in treatment?

Measles

After the high fever and mouth spots (Koplik spots), look for the triad of:
1) Cough
2) Coryza (runny nose)
3) Conjunctivitis

*Vitamin A

53

What vitamin reduces morbidity and mortality of measles by 50% (prevent eye damage and blindness)?

Vitamin A

54

Exposure to what compound will result in microtia?

Isotretinoin (Accutane used for acne!) -- if exposed in utero, microtia can result

Microtia: incomplete development and growth of pinna (outer ear)

55

Child has microtia of his R ear. What other organ system(s) would you assess?

RENAL, cardiac, limbs, facial

56

Compression failure of bone where metaphysics & diaphysis meet?

Buckle (Torus) fracture

Common in distal radius

57

Fracture due to plasticity of bone cortex in kids where one side of the bone is fractures while the other side is bent?

Greenstick fracture

58

Infant born to a diabetic mother. What is one of the first initial tests you want on the baby after delivery? Why?

Blood glucose level

During pregnancy, baby was producing high levels of insulin to combat the high blood sugars from mom. Now after being removed from the food source, the baby still produces large amounts of insulin --> will rapidly become hyPOglycemic --> get blood sugar level

59

What congenital defects are suspicious for being exposed to diabetes in utero?

Sacral agenesis, small L colon, cardiac defects

60

Infant of diabetic mothers can have polycythemia. Why?

During pregnancy in a mom w/ diabetes --> macrosomia, increased O2 requirements, and placental insufficiency all lead to perinatal asphyxia --> signals erythropoietin production in kidneys --> polycythemia

Polycythemia will cause increased bilirubin levels (excess breakdown of fetal RBCs)

61

Infant has poor HR & peri-oral cyanosis despite intubation and PPV. Why?

Infant of diabetic mother --> complication is cardiac defects!

62

Aside from CF, what is another cause of meconium ileus?

Infant of diabetic mother w/ small L colon syndrome --> seen in first 2 days of life w/ abdominal distention and vomiting

63

Child has cough for more than 2 weeks. What are you thinking? Next best initial step?

Pertussis

Nasopharyngeal aspirate (culture for Bordatella)

64

What are the triad of symptoms in Henoch-Schonlein Purpura?

1) Purpuric rash (LE and trunk)
2) Joint swelling/pain w/ decreased ROM
3) Abdominal pain

Worry of intussusception w/ onset of abdominal pain

65

Explosive non-bilious vomiting? What other finding on physical exam?

Pyloric stenosis
Olive-shaped mass near umbilicus

66

Intermittent, progressively worsening abdominal pain, currant-jelly blood-red stools/diarrhea, and sausage-shaped abdominal mass?

Intussusception

67

In a child with asthma, initial lung sounds reveal very faint wheezes w/ reduced air movement. After treatment, wheezing increases. Why? Is this normal?

This is normal - more airways are opening up and airway obstruction is starting to decrease from the treatment

68

Most common cause of neonatal sepsis?

GBS

69

Is ELISA an accurate test for newborns in assessment of HIV status?

NO - mother will have passes maternal antibodies for HIV to baby transplacentally. Baby will have (+) ELISA, but doesn't truly have HIV

70

Newborn w/ high resp rate and grunting 1 hr after birth. Good tone and color. Why?

Transient tachypnea of newborn (TTN)

Incomplete evacuation of fetal lung fluid in full-term infants --> resolves in 24-48 hrs of life w/ supplemental O2

71

Describe the physiology behind VSD as a child grows.

After birth, pulmonary vascular resistance (PVR) falls w/in several weeks to normal levels --> this gradually decreases the initial pressure in the RV --> allows blood to eventually flow from L --> R ventricles via VSD

This is what causes the audible murmur around 3-6 months of age

72

What is Eisenmenger syndrome?

Overtime, RVH leads to increased pulmonary artery pressure, causing pulm HTN --> response of lungs is vasoconstrict, further increasing pulm artery & RV pressure --> the pulm arteries will hypertrophy and become irreversible by age 5 if not corrected --> results in R --> L shunt

73

Child presents w/ one side of body (arm & leg) larger in size than other side. What is this called? What are associations?

Hemihypertrophy

- Wilms tumor (look for flank/abd mass, aniridia, GU defects)
- Focal nodular hyperplasia of liver (non-malignant tumor): RUQ mass
- Beckwith-Widemann syndrome: pediatric overgrowth disease (macrosomia, gigantism, hemihypertrophy, macroglossia, omphalocele)

74

What is the syndrome of pediatric overgrowth of numerous parts of the body? What are associations with this syndrome?

Beckwith-Wiedmann syndrome

Macrosomia, gigantism, hemihypertrophy, macroglossia, omphalocele

75

Child has several week history of spiking fevers w/ associated rash & body aches that wax and wane with the fevers. Several days after the onset of fevers, the child refuses to bear weight. What do you suspect? What lab tests do you do to confirm? What complication do you have to test for frequently?

Juvenile Idiopathic Arthritis (JIA)

Labs: increased WBC & platelets w/ anemia

Anterior Uveitis (inflammation of iris & ciliary body)

76

1) Baby breastfeeding from vegan mom at risk for what vitamin deficiency?

2) What supplements must you give to baby on goat's milk?

1) Vit B12

2) Vit B12, folate, iron

77

5 viral exanthems?

Rubeola (measles)
Rubella
Roseola
Variola (varicella or chickenpox)
Fifth's disease (erythema infectiosum)

78

Illness where 3-4 days high (104F) fevers that then abruptly stop w/ sudden onset of a rash as soon as fevers subside?

Roseola (HHV-6)

79

Child w/ an infection is placed on Abx. His conditions worsen over the next 2 days. Why? Do you need to change Abx?

Abx take 24-48 hrs to start taking effect --> symptoms WILL worsen 1-2 days after starting Abx and there is no need to change Abx

80

Child w/ presence of infection and fevers and placed on appropriate Abx. At day 4 of treatment, child still have fevers despite the Abx. Why? Next appropriate step?

Suspect ABSCESS

The Abx will help reduce the infection and as the bacterial are killed off, they can easily form an abscess --> no amount of Abx will help!

Need to drain the abscess! Once drained, the Abx can be effective again

81

Newborn w/ bilious vomiting. What is the diagnosis until proven otherwise?

Malrotation of the midgut volvulus --> surgical emergency to prevent ischemic death of entire midgut (incompatible w/ life)

82

Classic abdominal pain presentations in children - points to:
- Belly button?
- RUQ?
- LUQ?
- Epigastric area?
- Lower abdomen, esp midline?

- Belly button --> nothing babd under here, could be early onset appendicitis but not if going on for several days
- RUQ --> gallstone sludge (esp if overweight)
- LUQ --> gastritis
- Epigastric --> reflux
- Lower abdomen, esp midline --> constipation

83

What is a concern for untreated IV line infection?

Endocarditis

Often a clot is the nidus for infection in an IV line --> can dislodge and infect heart valves

84

Most common cause for midline mass that's been present since infancy. Mobile, non-tender, and fluctuates in size?

Thyroglossal duct cyst

Can be anywhere from foramen cecum (base of tongue) to thyroid cartilage --> the descent of thyroid gland

Surgical excision w/ Sistrunk procedure

85

Child/adolescent (boy) w/ antalgic (trying to avoid pain when walking) gait and decreased hip abduction and internal rotation w/ pain. What is it?

Legg-Calve-Perthes disease (avascular necrosis of femoral head)

86

Findings for congenital hip dysplasia (developmental dysplasia of the hip)?

If uncertain about DDH, how to you confirm?

Joint instability subluxation
Dislocation of hip w/ passive manipulation
Distinct clicking sound w/ motion of abducted legs

Confirmatory test --> ultrasound

87

8 yo falls on outstretched arm. What is most common elbow fracture in this age? What are 2 complications?

Supracondylar humerus fracture

**Brachial artery and median/ulnar nerve damage

88

Constipation in a neonate should be considered ____ until proven otherwise, especially w/ no meconium within 48-72 hrs after birth? What test should be performed? How is definitive diagnosis made?

Hirschsprung Disease

Barium enema --> imaging shows megacolon w/ transition zone b/w normal & ganglionic segments of colon
**Usually recto-sigmoid area

Def diagnosis: mucosal biopsy (areas devoid of ganglionic cells)

89

Most common cause of constipation outside of infancy?

Functional constipation (voluntary withholding)

90

Child has pain opening their mouth, painful sore throat, a muffled voice and respiratory distress. They also have uvula deviation and U/L cervical lymphadenopathy. What are you thinking? Imaging test of choice? Treatment?

Peritonsillar abscess

Imaging test: CT neck w/ contrast

Tx:
- If no resp distress: Abx (ampicillin-sulbactam + clindamycin for anaerobes) and supportive tx
- If resp distress: I&D w/ Abx

91

Child w/ hydrocephalus since birth and ventriculo-peritonieal shunt in place develops 3 day hx of irritability, headache, nausea, and vomiting. He also has impairment of upward gaze. What is most likely the cause of the current condition?

Obstruction or infection of ventriculo-peritoneal shunts

*Symptoms of increased ICP = irritability, HA, N/V

92

One-sided malodorous nasal discharge w/ occasional blood w/ frequent sneezing?

Nasal foreign body

93

8 yo w/ 2 grossly bloody stools 1 week ago. What must you consider? What is best test to confirm?

Meckel diverticulum: contains gastric mucosa & acid production erodes nearby ileal mucosa

Technetium scintigraphy scan: radioisotope injected w/ high affinity for gastric mucosa, allowing visualization of ectopic tissue in diverticulum

94

5 yo boy w/ development of bowed legs and is taking Vit D. His mom's brother & maternal uncles had similar bone deformities. Exam shows frontal bossing, multiple enlargements of costochondral jxn, and bowing of legs. Xray shows severe bone demineralization. What is it? What electrolyte is decreased in the chronic phase?

Hereditary hypophosphatemic rickets (Vit D-resistant rickets)

Low phosphate

95

Child with history of MVA accident, abnormal CXR w/ L lung opacity w/ obscure L hemidiaphragm & shifting of mediastinum to the R. What do you suspect? What is best initial test?

Diaphragmatic injury w/ herniation of bowel into L chest

CT scan (chest & abdomen)

96

Only time you'll see B/L retinal hemorrhages in children?

Shaken baby syndrome

*Look for other signs --> bleeding behind TM's, bruising on both upper arms

97

What is adrenoleukodystrophy?

X-LINKED disease that results from mutations in peroxisome transport mechanisms allowing very long-chain fatty acids (VLCFA) into peroxisomes --> prevents B-oxidation and breakdown of VLCFA --> they accumulate in affected organs (neurons, adrenal cortex)

S/S:
Neurologic: weakness, spasticity --> dementia, blindness
Primary adrenal insufficiency --> hyponatremia, postural hypotension, hyperkalemia
**No response to consynotropin stimulation test

98

5 yo boy w/ development of bowed legs is taking Vit D. His mom's brother and maternal uncles had similar bone deformities. Exam shows frontal bossing, multiple enlargements of costochondral jxn, and bowing of legs. Xray shows severe bone demineralization. What is it? What electrolyte is decreased in chronic phase?

Hereditary hypophosphatemic rickets (Vit D-resistant rickets)

Low phosphate

99

10 mo with 4 day hx of high fevers. The fever has resolved and suddenly a rash developed from the chest and spread to arms and legs. What infection is it and what organism is responsible?

Roseola --> HHV-6 (human herpesvirus 6)

S/S: high fever that resolves and suddenly appearance of rash on trunk (spreads to extremities)

100

Child with diarrhea that is followed by anemia, low platelet count, and renal failure (oliguria). A decreasing urine volume in an adequately hydrated child with diarrhea should suggest what?

Hemolytic Uremic Syndrome (HUS)

*Prodrome of diarrhea followed by:
1) Low platelets
2) Anemia w/ high LDH
3) Acute renal failure (oliguria)

101

2 characteristic findings of scarlet fever?

What's the bug?

Tx?

Sandpaper-like rash
Strawberry-red tongue

Group A Strep

Penicillin V

102

What are risk factors for necrotizing enterocolitis?

S/S that point to nec enterocolitis?

Hallmark X-ray finding?

Prematurity, congenital heart disease, hypotension

*Ischemia to mesenteric arteries causing infarction of bowel

Newborn w/ feeding intolerance, abdominal distension, bloody stools

*Pneumatosis intestinalis (air in bowel wall)

103

Anorexic girl w/ nasogastric feeds develops non sustained VT. Why?

Insulin from feeds causes K & Mg to move INTO the cells --> decreases already low serum levels --> cardiac arrhythmias

104

Child with preorbital and tibial edema and proteinuria. What is most likely expected result of light microscopy of kidney biopsy?

NORMAL

Minimal change disease has normal microscopy findings
- Effacement of FOOT PROCESSES of podocytes on electron microscopy

105

Workup of suspected malrotation of midgut volvulus?

1) Abdominal xray --> r/o pneumoperitoneum (perforation)
2) If no signs of duodenal atresia or obstruction --> Upper GI series (most accurate)

Ligament of Trietz on R side of abdomen = malrotation
"Corkscrew" pattern = volvulus

106

Child with altered mental status (confusion), seizure activity, and anemia (low MCV). What do you suspect?

Lead toxicity

Causes sideroblastic anemia

107

Pink maculopapular exanthem beginning on the face and spreading quickly to the rest of the body. Child also has a mild fever and lymphadenopathy. Also has non-exudative conjunctivitis & patchy erythema on the soft palate. What is it?

Rubella

108

2 mo infant with vomiting worse after meals. However, not bilious or projectile vomiting. Exclusively formula fed and tried switching to other formulas with no success. Ht & wt in 5th percentile. What is likely cause and tx?

Infantile GERD

Start with formula thickening, smaller and more frequent meals, elevate head after feeds

109

In stable preterm neonate, are vaccinations given based on gestational age or chronological age?

Chronological age

110

Woman with no prenatal care has a baby with IUGR. The baby has clouded lenses and machine-like murmur. What is it? What sign would mom have had during pregnancy? What is best way to prevent fetus developing this?

Congenital rubella
Rash at some point
Live attenuated vaccine to mom BEFORE conception

111

What is the most common cause of isolated proteinuria in children?

What is monitoring criteria?

Transient proteinuria

Re-evaluate urine dipstick testing on 2 separate occasions

112

What defect occurs with delayed separation of the umbilical cord, recurrent bacterial infections, and necrotic periodontal infections with increased neutrophils in the blood and absence of neutrophils in inflamed/infected tissues?

Leukocyte Adhesion Defect Type 1

113

Baby with sub-periosteal hemorrhage and presents a few hours after birth with scalp swelling limited to only 1 cranial bone. What is it? What is best treatment?

Cephalohematoma

No treatment required and will resorb spontaneously within 2 weeks - 3 months

114

6 yo with easy fatiguability and pallor with the onset of these symptoms after he was treated with "some medication" for recent diarrhea. His labs show increased BUN and creatinine, low platelets. Child has a fever and peripheral smear of schistocytes with microangiopathic hemolytic anemia. What is it?

Hemolytic Uremic Syndrome

115

Child with flank mass and high homovanillic acid and vanillamandillic acid in urine. What is it? What is it derived from?

What are seen on X-ray or CT?

Neuroblastoma

Derived from neural crest cells --> this is why it can either be 1) adrenal or 2) sympathetic chain

*Calcification and hemorrhages

116

Most common cause of congenital aplastic anemia?

What type of anemia is present?

What are s/s?

Fanconi anemia --> auto recess or X-linked
- DNA repair genes damaged

Macrocytic (MCV > 100)

Low Hb, Low platelets, Low WBC
*Abnormal/bent thumbs
*Hypo/hyperpigmented spots on skin

117

Child born with L calcaneum and talus in equines and various positions, midfoot is varus, and forefoot is in adduction. Dorsi & plantar flexion are limited. Next best step in mgmt?

Club foot (talipes equinovarus)

*Stretching, manipulation, and serial casting --> if these fail, surgery

118

With impetigo in children, what is preferred treatment?

Topical antibiotics (avoid systemic effects)
e.g. mupirocin

119

In children (boys) with enuresis, after behavioral changes (enuresis alarms & rewards), what is first best pharmacotherapy choice?

Desmopressin 1st!
- Fewer side effects vs. TCAs

120

Child with acute onset SOB and respiratory distress has wheezing present over one lung only. CXR shows I/L hyperinflation of that same side. What is the cause?

Foreign body aspiration (more commonly on R side)

121

What is Beckwith-Wiedemann syndrome?

What are 4 classic physical findings?

Overgrowth disorder with predisposition to neoplasms
- Inherited alteration of chromosome 11p15 (IGF-2)

1) Macrosomia
2) Macroglossia
3) **Hemihyperplasia (one side of body larger than other)
4) Medial abdominal wall defects (Umbilical hernia, omphalocele)

122

What 2 tumors are children with Beckwith-Wiedemann syndrome at increased risk to get?

What is best screening tool?

1) Wilms tumor
2) Hepatoblastoma

Abdominal Ultrasound

123

2 conditions that can cause macrosomia in newborn?

Maternal gestational diabetes (uncontrolled)
Beckwith-Wiedemann syndrome (**unilateral body extremity swelling)

124

Newborn who chokes, coughs, and regurgitates her first feeding. Prenatal ultrasound showed polyhydramnios. Exam shows crying neonate with copious oral secretions, resp distress, and abdominal distention. What is it?
What are imaging findings, esp with Et and NG tubes?

Esophageal atresia and tracheoesophageal fistula

*Polyhydramnios
- Choking, coughing, regurgitation with initial feeding attempt

*NG and ET tubes stuck in proximal esophagus on Xray

125

11 yo boy with 2 weeks runny nose and now has irritating dry cough that is worsening and causes him to vomit occasionally. He has had vaccinations up to 5 yo. Subconjunctival hemorrhages are seen. Has atypical lymphocytosis. What is it? What is best step in mgmt? Best tx?

Pertussis (whooping cough)
- Runny nose initially followed by coughing spells, inspiratory whoop usually followed by vomiting
- Lymphocyte-predominant leukocytosis

*Bacterial culture OR PCR of secretions

Tx: macrolides

126

Most common complication of premature births under 3.3 lbs?
What s/s?
What is seen on imaging?

Intraventricular hemorrhage

Rapidly increasing head circumference
Bulging fontanels
Lethargy
High-pitched cry

Ultrasound of head --> hemorrhage in ventricles

127

What is constitutional growth delay? What is treatment?

Children who initially (first few months) have normal weight and height, but around 3yo their growth velocity slows and drops percentiles on the growth curve.

May have bone ages that are delayed compared to chronological age.
Can have delayed puberty.

NO treatment --> will eventually have growth spurt and reach normal adult height

128

What is breastfeeding failure jaundice?

What lab findings or s/s?

Failure of adequate feeding during first week of life

Unconjugated hyperbilirubinemia
Dehydration --> red deposits (urate crystals) in diapers
Decreased amt of diapers in first week

129

Most common nutritional deficiency in children?

What is a common cause?

Tx?

Iron deficiency --> look for anemia with LOW MCV

*COW's milk -- early introduction or excessive intake!
- Low in iron and can cause occult intestinal blood loss

Tx: oral iron intake

130

Premature babies at risk for what complication after delivery?

How to prevent this?

Respiratory distress syndrome --> due to inadequate surfactant production in alveoli --> have grunting, nasal flaring, retractions

CXR: Classic ground-glass opacities b/l

Steroids to mom during pregnancy but before birth

(+) pressure ventilation continuous

131

6 yo boy has recurrent bouts of sinusitis and recent nosebleeds. Sweat chloride test is (+). What is the factor deficient in him?

Either 2, 7, 9, 10

CF causes pancreatic exocrine failure -> no fat soluble vitamin absorption -> no Vit K absorbed -> responsible for the above factors

132

Most common cause of urinary tract obstruction (oligohydramnios) in newborn boys?

Posterior urethral valves

133

What signs point towards viral myocarditis?

What bugs are responsible?

Viral prodrome
*Fever
*Respiratory distress
*Signs of heart failure (dilated cardiomyopathy, hepatomegaly, pulmonary congestion w/ NO improvement after bronchodilators)

Coxsackie B
Adenovirus

134

7 yo develops scant pubic and axillary hair with her bone age at 9 yo. She also used a training bra. Her LH is elevated. What is next best step?
Tx?

Brain MRI

She has gonadotropin-dependent precocious puberty (central)

Treatment: GnRH agonist (clomid) to prevent premature epiphyseal plate fusion and help maximize height potential.

135

Any child under age of 2 who develops a febrile UTI needs what 2 things?

1-2 wk of antibiotics
Renal/bladder Ultrasound to rule out anatomical abnormalities

136

What causes Prader-Willi syndrome?

S/S?

Prader = Paternal absence of 15q11-q13

Poor suck and feeding in infancy
Binge-eating & obesity as child

137

What is cause of Angelman syndrome?

S/S?

Angelman = Mom's absence of gene

*Smiling/laughing
Hand-flapping

138

Signs of Henoch-Schonlein purpura?

What is a complication?

Abdominal pain
Palpable purpura (non-blanching on buttocks/legs)
Hematuria
Arthralgias
Scrotal swelling

Intussusception --> bloody (currant-jelly) stools

139

What do you suspect in increased residual gastric volume, vomiting, and abdominal distention in a premature neonate?

What is X-ray finding?

Necrotizing enterocolitis

Pneumatosis intestinalis - air can get into portal vein

140

How can you quickly estimate volume of IV fluids needed for child with dehydration?

What is best type of fluid to use?

1 kg of weight change from "normal" = 1 L fluid to be replaced

Isotonic NS

141

What are the 3 findings of fetal alcohol syndrome?

1. Small palpebral fissures
2. Smooth philtrum (Vertical groove above upper lip)
3. Thin vermilion border

*Growth is also compromised
Microcephaly
Social withdrawal
Delays in motor and language milestones

142

What are 2 important risk factors for neonatal respiratory distress syndrome?

**Prematurity

Maternal diabetes --> high maternal blood sugar triggers high fetal insulin levels --> the high insulin blocks release of cortisol in the baby (opposite functions) and thus blocks the maturation of sphingomyelin (needed in surfactant)

143

Pregnant women with a history of Graves disease, even if the thyroid has been removed - their children are at risk for what?

Tx?

Neonatal thyrotoxicosis

**The maternal anti-TSH receptor autoantibodies are still in mom's circulation --> these will cross the placenta (b/c they are IgG) and cause acquired Graves disease in the baby --> may be irritable, warm skin, tachycardic

Tx: can give B-blockers and methimazole, but the condition resolves over a few weeks-months

144

Child has a (+) capillary (fingerstick) blood test for lead exposure. What is the next step?

When is treatment needed?

Confirm with venous lead level

*Treatment only needed ABOVE 44 mcg/dL
Start with DMSA
*If BELOW 44, do repeat lead level in 1 month

145

A newborn with a scrotal mass that is cystic and transilluminates. Is surgery needed?

NO -- most hydroceles resolve spontaneously by 1 yo

146

3 yo has recent eye and leg swelling. No recent illnesses. Labs show low protein and albumin with 4+ proteinuria and no RBCs. What is it? What's next best step?

Minimal change disease

**Tx with steroids (prednisone)

147

Children with Turner syndrome are at risk for what skeletal abnormality?

**Osteoporosis --> low estrogen from gonadal dysgenesis and from only 1 copy of X chromosome

148

What is genetic defect of Marfan syndrome?

What heart defect can result?

Mutation of Fibrillin-1 gene --> systemic collagen synthesis defects

**Aortic root dilation --> aortic regurgitation, aneurysms, aortic arch dissections

149

When to suspect SCFE?

Tx?

Adolescent boy with knee/hip pain and fixed external rotation

Tx: pinning of femoral head

150

Newborn has conjugated hyperbilirubinemia and enlarged liver...what do you suspect?

Biliary atresia --> evaluate with abdominal ultrasound

151

Newborns of mothers with active HepB should be given what at birth?

HepB immune globulin followed by active immunization with recombinant HBV vaccine

152

11 yo child is fed exclusively with home food, not store bought food. His anterior fontanelle is wide open with pliable skull bones without step-offs. There are bony prominences of the costochondral junctions b/l. He also has genu varum. What is most likely cause?

Ricketts --> Vit D deficiency

**Exclusive breastfeeding
**Delayed fontanel closure
**Costochondral joints (rachitic rosary)
**Genu varum (femoral and tibial bowing)

153

What condition has enlarged liver and spleen, decreased reflexes, and "cherry-red" macula?

What is the enzyme deficiency?

Niemann-Pick disease

Sphingomyelinase deficinecy

"Pick you nose with you Sphinger"

154

How is Tay-Sachs different from Niemann-Pick?

Hyperreflexia
NO hepatosplenomegaly

**Both have "cherry-red" macula

155

1 day old girl has short webbed neck, dysplastic nails, and b/l non-pitting carpal and pedal edema. Ultrasound shows horseshoe kidney. What is the cause of her edema?

Congenital lymphedema --> abnormal development of lymphatics

Severe obstruction of lymphatic vessels results in CYSTIC HYGROMA of neck and fetal hydrops

156

Why will a fetus with b/l renal agenesis NOT survive outside the uterus?

Severe PULMONARY HYPOPLASIA is associated with renal agenesis in a fetus

157

What childhood disorder is comprised of NON-progressive MOTOR dysfunction?

Greatest risk factor?

Commonly seen s/s?

Cerebral palsy

*Premature birth (

158

3 mo old boy comes to ER b/c of refusing to feed. He recently has not been latching onto the nipple. He was previously feeding well and stooling 3-4 times a day but his last BM was several days ago. His family recently moved to California and has been enjoying stroller walks in their newly-built neighborhood. No honey has been eaten. Exam shows b/l ptosis, sluggish pupillary reaction to light, copious drool, weak suck and gag reflexes and head lag. Extremities are flaccid and in extension. What is the cause of this? Tx?

C. botulinum spore ingestion from environmental dust
*Construction areas in California, Penn, Utah

Spores found in soil

B/L bulbar palsies followed by descending flaccid paralysis

*Constipation also

Tx: botulism immune globulin

159

In croup, what should ALWAYS be tried before intubation?

Racemic epinephrine

160

14 yo boy presents with a change in his voice. He has been having frequent nosebleeds over the pat month and says his L nostril is always congested. His nasal septum is intact, but a visible mass is seen at the back of his L nostril. CT scan shows erosion of the adjacent bone. What is this until proven otherwise?

Juvenile Angiofibroma

*Typically at the back of nose or upper throat
*Locally invasive

161

Triad for angiofibroma?

Any ADOLESCENT with:
1) nasal obstruction
2) visible nasal mass
3) frequent nosebleeds

162

What condition has phenotypic female with 46XY karyotype?

Androgen insensitivity syndrome

*B/L gonadectomy recommended AFTER completing puberty (Attain adult height)

163

In children under 3 yo, what is a common finding on CXR not seen in anyone older than 3?

Thymic silhouette --> "Sail sign"

*Seen in R upper chest near sternum

164

6 yo infant brought to ER for lethargy and poor feeding. He shows hypotonia, poor reflexes, and bulging fontanelles. Temp is 103, WBC count 16,000. What is going on? What is common bug? Tx?

Neonatal sepsis

GBS & E.coli

Tx: ampicillin + gentamicin

165

Infants who are small for gestational age are at risk for several complications due to their size - what are they?

Hypoxia --> causes polycythemia
Perinatal asphyxia
Meconium aspiration
Hypothermia
Hypoglycemia

166

What are the 3 common findings in Wiskott-Aldrich syndrome (WAS)?

What is the cause of thrombocytopenia?

1) Thrombocytopenia (low platelets - bleeding)
2) Dry, scaly lesions (eczema)
3) Recurrent infections

"TIE"

Decreased platelet production is primary cause

167

15 yo with unstable gait and speech difficulty. He has scoliosis and hammer toes. He also has dysarthria, dysmetria, nystagmus, and absence of deep plantar reflexes on LE. What is he most likely to die from?

Friedrich ataxia

**Neurologic (ataxia, dysarthria), skeletal (scoliosis, feet deformities), and cardiac (hypertrophic cardiomyopathy)

Cardiomyopathy

168

12 wk old has apathy, weakness, hypotonia, large tongue, and sluggish movement with an umbilical hernia. What should you suspect and test for?

Congenital hypothyroidism

TSH levels

169

Diagnostic for intussusception?
Treatment for intususpeption?

Ultrasound --> target sign
Air enema

170

Newborn born with ulcerative lesions his feet, anemia, and high bilirubin. He also has hepatosplenomegaly and clear rhinorrhea. What is the congenital infectious cause?

Syphilis

171

What findings should point you towards rheumatic fever?

Pericarditis (friction rub, diffuse ST elevations)
Chorea
Sub-Q nodules
Untreated sore throat hx

172

What is a contraindication to rotavirus vaccine?

Intussusception
Meckel's

173

How is human milk better than formula?

Protein composition in human milk is 70% whey and 30% casein --> whey is more easily digested and helps to improve gastric emptying!

174

Neonate with bilious vomiting - best initial test?

Next test?

Xray - r/o pneumoperitoneum and need for emergent surgery

If no pneumoperitoneum --> contrast enema

175

What is the most common nutritional deficiency in children?

What is a common cause?

What lab finding is specific for it?

Iron deficiency

Excessive cow's milk consumption (>700ml/day)

High RDW (>20%) = Fe def anemia

176

What should always be suspected in children with recurrent intussusceptions?

Confirmatory diagnostic test?

Meckel's diverticulum

Technetium-99m pertechnaetate scan

177

4 yo boy has difficulty walking. Often falls and walks on his toes. He has thigh atrophy, b/l calf enlargement. What is it?
What is the exam finding called?
What is confirmatory test?

Duchenne Muscular Dystrophy

Gower sign

Genetic testing --> X-linked recessive (like G6PD def)
*Dystrophin gene

178

18 yo has elective hernia repair and needs blood transfusion. He experiences an anaphylactic transfusion reaction. His past hx included recurrent sinopulmonary infections and intermittent episodes of diarrhea since childhood. What is the cause?

IgA deficiency

- Diarrhea = Giardia
- Form antibodies to IgA - predisposed to anaphylactic transfusion reactions

179

4 mo male with webbed neck, cleft lip, shielded chest, triphalangeal thumbs, and pale mucus membranes and conjunctivae has Hb 8 and reticulocytes of 0.4. What is the cause?

Diamond-Blackfan anemia
Congenital hypoplastic anemia w/ macrocytic anemia, low reticulocyte count, congenital anomalies.

180

Child develops fevers, hives, and joint pain. He has been taking penicillin for a strep pharyngitis that was diagnosed 9 days ago. He is febrile and has palpable lymph nodes in cervical, axillary, and inguinal regions. What is the cause?

Serum sickness-like reaction

*Fever, hives, multiple joint pains 1 week after B-lactam/TMP-SMX treatment*

181

What 2 things should children be given in exclusively breastfed?

Iron
Vit D

182

Only contraindication for breastfeeding?

Galactosemia

183

What to look for in McCune-Albright syndrome?

4 P's
Precocious Puberty
Pigmentation (cafe-au-lait spots)
Polyostotic fibrous dysplasia (fractures)

184

How does Chlamydial conjunctivitis present?

Tx?

S/E of tx?

*5-14 days after delivery
*B/L chemosis, eyelid swelling, watery/purulent discharge

Tx: oral erythromycin
*May cause hypertrophic pyloric stenosis (stimulating GI tract motility)

185

How does gonorrheal conjunctivitis present?

What is used at birth to prevent this?

*2-5 days after delivery
*Profuse purulent discharge, corneal edema/ulceration

*Erythromycin eye ointment

186

How does chemical conjunctivitis present?

mild conjunctival irritation AFTER applying silver nitrate drops

187

2 wk old infant has inguinal skin fold that extends to the anal region. What is the next best test?

Developmental dysplasia of the hips (also do Barlow and Ortilani)

*Ultrasound of hips

188

What are risk factors for jejunal atresia?

What signs are found from history / imaging?

Risk factors: maternal use of cocaine, tobacco (any vasoconstrictive drugs)

*Bilious vomiting
*Abdominal distension
*CXR: "triple-bubble" sign + gasless colon

189

Developmental milestones in 1 yo?

Wt should triple (from birth)
Ht should increase by 50%

Walking independently
2-finger pincer grasp
Few words
Imitating actions of others

190

2 month old born at 32 weeks who has pallor tachypnea, tachycardia, and flow murmurs. He has low Hb and low reticulocytes. Peripheral smear shows normocytic, normochromic RBCs. What is diagnosis?

Anemia of prematurity
- Low reticulocyte count

191

Children with evidence of vesicoureteral reflux should be monitored for what complication is untreated?

What hx component should raise suspicion for this?

Renal scarring

*Retrograde passage of urine up into ureters and renal pelvis

*Recurrent UTIs in boys!!

192

Newborn male cries like a cat and has microcephaly with moon-like facies, hypotonia?

Cri-du-chat
*Cat-like cry

193

6 yo with Down syndrome develops behavioral changes and seems dizzy. She has developed urinary incontinence and an ataxic gait. Exam shows hypotonia but hyperreflexia with (+) Babinski reflex. What is the cause?

Atlantoaxial instability

*Laxity b/w C1-C2 w/ compression of spinal cord

*Behavioral changes, urinary incontinence, dizziness, vertigo, diplopia
*UMN s/s --> hyperreflexia, (+) Babinski
Hypotonic

194

2 yo boy is found to have substantial amount of maroon-colored stool in his diaper. Labs show low Hb, but normal platelets and WBCs. He is afebrile and remainder of exam non-contributory. What is best method to confirm diagnosis?

Meckel's diverticulum --> PAINLESS hematochezia

*Technetium-99m pertechnetate scan

*Rule of 2's
2 yo
2 feet of ileocecal valve

195

Infant with low birth weight, closed fists w/ index finger overlapping 3rd digit and 5th digit overlapping 4th digit, prominent occiput, micrognathia, and rocker-bottom feet. What is the cause?

Edwards syndrome

196

Child has 2 wk hx of rhinorrhea, congestion, and mild cough. The cough has worsened to the point where he vomits after the coughing spells. Cough is worse at night. What is most likely cause?

Bordetella pertussis

*Paroxysms of coughing followed by vomiting

197

B/L leg pains that occur at night in a 6 yo boy. He has no systemic symptoms, has normal activity levels, and normal physical examination. What is the cause and tx?

Growing pains

Observation and reassurance

198

Most common agent of pediatric lymphadenitis following sore throat?

S. aureus

199

What are 3 common causes for physiologic jaundice of the newborn?

1) Fetal RBC have shorter life span = high Hb turnover and bilirubin production

2) Bilirubin clearance decreased due to decreased UGT activity --> doesn't reach adult levels until 2 weeks of age

3) Sterile newborn gut can't breakdown bilirubin to urobilinogen for fecal excretion

200

1 mo old has regurgitation of large amt of milk with every feed. His stools have become bloody over the past day. He has hx of eczema. He has been exclusively breastfeeding since birth. What is the cause?

Milk protein-induced enterocolitis

*Severe reflux/vomiting + painless bloody stools

201

In children with breath-holding spells, what blood work must also be investigated?

CBC --> Fe-def anemia often associated

202

Difference between neuroblastoma and Wilms tumor?

*Hematuria + one-sided mass --> Wilms tumor
Aniridia, GU deformation

*Systemic symptoms + abdominal mass