Uworld peds Flashcards
(192 cards)
1
Q
Lymphadenitis? Common bugs?
A
Lymph node becomes enlarged, tender, erythematous
Acute unilateral: bacterial; S. Aureus is most common, then Group A Streo
Bacterial lymphadenitis usually seen in
2
Q
Bacterial causes of lymphadenitis other than S. aureus?
A
Francisella tulranesis
- Acute unilateral cervical
- Fever chills headache malaise
- Zoonosis and presents after contact with infected animal (rabbits, hamsters, blood sucking arthropods)
Peptostreptococcus:
- Acute unilateral
- Seen in older children with h/o periodontal disease
EBV:
- Subacute/chronic, bilateral
- Fever, pharyngitis, hepatosplenomegaly
3
Q
Tetralogy of Fallot clinical presentation? What are the 4 TOF abnormalities?
A
Fatigue
Peripheral and perioral cyanosis
Systolic murmur along left sternal border
- VSD
- Overriding aorta over right and left ventricles
- Right ventricular outflow obstruction
- Right ventricular hypertrophy
4
Q
Clinical presentation of those with TOF depends on:
A
SEVERITY of right ventricular outflow tract obstruction
5
Q
Why do you get cyanosis with TOF? Does squatting help?
A
Presence of R->L shunt in pts with severe/worsening RVOT obstruction such as
- Subvalvular
- Pulmonary valve stenosis
- Supravalvular narrowing of the main pulmonary artery
Squatting increases peripheral vascular resistance (afterload) and decreases degree of R->L shunt across the VSD
–> This increases the intensity of the systolic murmur due to increased flow across the RVOT
6
Q
What are 3 heart anomalies seen in Turners?
A
Bicuspid aortic valve (20-30%) - get an echo!
Coarctation of aorta (3-10%)
Aortic root dilation
7
Q
TOF is occasionally seen in ____ and ____ but not _____
A
Downs
DiGeorge
Not Turners!
8
Q
When should you suspect aplastic anemia?
A
Any patient with thrombocytopenia with drug intake, exposure to toxins, or viral exposure
9
Q
How do you dx acute bacterial rhinosinusitis?
A
PERSISTENT sx for 10 or more days without improvement
or
Severe symptoms, fever >39(102F), purulent nasal discharge, or face pain for 3 or more days
or
Worsening symptoms for 5 or more days after initially improving upper respiratory infection
10
Q
Lesch Nyhan syndrome mode of inheritance and enzyme? How and when does it present?
A
X-linked recessive
Hypoxanthine-guanine phosphoribosyl transferase (leads to increased uric acid levels, which accumulates in tissues)
Presents around 6mo with hypotonia and persistent vomiting–> progresses –> mental retardation, choreoathetosis, spasticity, dysarthric speech, dystonia, compulsive self-injury (esp biting of upper extremities)
11
Q
Gout in a boy should make you think _____
A
Lesch-Nyhan syndrome
Gout, gouty arthritis, tophus formation
12
Q
At what age is precocious puberty considered?
A
Girls
13
Q
You can resuscitate someone with .45% saline or 5% dextrose. T/F? Why or why not?
A
False
They are both hypotonic solutions and will leave intravascular space rapidly and lower the sodium too rapidly –> cerebral edema
14
Q
What are the major and minor criteria of acute rheumatic fever?
A
Major: JONES Joints - migratory arthritis Heart - carditis (e.g. pericarditis, friction rub, ST elevations) Nodules (subcutaneous) Erythema marginatum Sydenham chorea
Minor: Fever Arthralgias Prolonged PR interval Elevated ESR/CRP
15
Q
How do you dx acute rheumatic fever?
A
2 major criteria OR
1 major + 2 minor criteria OR
If either Sydenham chorea or carditis is present
16
Q
What causes acute rheumatic fever?
A
Untreated group A strep (s. pyogenes)
Pharyngitis from group A strep normally self resolves BUT a 10 day course of oral penicillin is recommended to prevent ARF.
17
Q
How does lymphedema compared to edema from liver failure?
A
Lymphadema is usually NOT pitting
Liver failure edema is usually pitting
18
Q
Congenital lymphedema can be seen in _____ syndrome
A
Turners
Abnormal development of the lymphatic network –> accumulation of protein-rich interstitial fluid in hands, feet, neck (webbed neck)
SEVERE obstruction of lymphatic vessels –> cystic hygroma
19
Q
Two most common offending triggers of pediatric myocarditis?
A
Coxsackie B
Adenovirus
20
Q
Course of viral pediatric myocarditis?
A
Viral prodrome (URI) –> worsening respiratory distress (tachypnea, dyspnea, wheezing, and/or crackles) from acute left heart failure and pulmonary edema
Holosystolic murmur may be identified 2/2 dilated cardiomyopathy and resulting functional mitral regurgitation
Hepatomegaly can be present from passive congestion from right heart failure
21
Q
Tx of pediatric myocarditis?
A
Diuretics and inotropes
22
Q
What are three causes of neonatal conjunctivitis and which is the most destructive?
A
Chemical
Gonococcal - most destructive; may lead to corneal perforation and blindness
Chlamydia
23
Q
_____ is the treatment of choice for chlamydial conjunctivitis in pneumonia. Side effect of?
A
Oral erythromycin
Increased risk of pyloric stenosis with erythromycin
24
Q
Ceftriaxone should be avoided in infants with _____ because:
A
Ceftriaxone should be avoided in infants with hyperbilirubinemia because it results in displacement of bilirubin from albumin binding sites –> increasing risk for kernicterus
25
Bedwetting is normal before age ___
5
26
Boys generally complete toilet training EARLIER or LATER than girls?
Boys generally complete toilet training LATER than girls
27
Pubertal gynecomastia is seen in up to 2/3 adolescent boys during mid-late puberty. T/F?
True
- Uni or bilateral, sometimes tender
- Due to transiently increased testicular production of estrogen over testosterone and peripheral conversion of prohormones to estrogen
- No workup necessary, resolves in months to 2 years
28
Common pathological causes of gynecomastia?
Androgen deficiency
- Renal failure
- Hyperprolactinemia
- Primary or secondary hypogonadism (Klinefelter, gonadal damage)
29
Pt has severe paroxysms of cough and has subcutaneous emphysema. What is the next step in management and why?
Get CXR to rule out pneumothorax
- Severe coughing paroxysms may result in subcutaneous emphysema wherein air leaks from the chest wall into the subq tissues due to the high intraalveolar pressures provoked by the cough
30
Duodenal atresia is strongly associated with ____ syndrome
Downs Syndrome
31
Duodenal atresia classically presents with:
Bilious vomiting within first 2 days of life
| - Prenatal US shows polyhydramnios due to inability to swallow and remove amniotic fluid
32
Dysmorphic features in downs?
```
Epicanthic folds
Upslanting palpebral fissures
Low set small ears
Flat facial profile
Short neck with excess skin
Sandle toe deformity
Hypoplastic incurved 5th finger
Single transverse palmar crease
Brushfield spots
```
33
Cause of colic?
Unknown but may be because:
- Overstimulation of infant
- Parental unfamiliarity with alternative soothing methods like infant swing, swaddling, minimizing environmental stimuli, holding/rocking baby, making sure you dont under/overfeed, burping correctly
34
Children with bacterial rhinosinusitis present with:
nasal drainage, congestion, cough
- Sx last 10-30 days without improvement
- Appear ill with high fevers >39 (102.2F)
- Purulent nasal discharge for >3 days
35
Most common predisposing factor for acute bacterial rhinosinusitis?
Viral URI because viral infection --> mucosal inflammation --> poor mucociliary clearance of bacteria --> 2ndary bacterial infection
36
GH is usually normal in Turners syndrome. T/F?
True
37
How do vascular rings present?
Before 1yo old with respiratory or esophageal symptoms
- Stridor (improves with NECK EXTENSION)
- Wheezing
- Cough
- Dyspnea or
- Difficulty feeding
38
What causes vascular rings? How do you evaluate/tx?
```
Results from abnormal development of aortic arch causing tracheal, bronchial, or esophageal compression
Dx:
- Barium contrast esophagram
- Bronchoscopy
- CT
- MRA
- Surgical correction
```
39
SGA have a weight under the ____ percentile for gestational age and may have complications such as:
```
Under 10th percentile
Complications
- Hypoxia
- Polycythemia
- Hypoglycemia
- Hypothermia
- Hypocalcemia
```
40
Wilms tumor?
Most common primary renal neoplasm in child, affects ONE kidney
- Usually dx between 2-5 years old
- Common presentation: asymptomatic abdominal mass
41
What is Henoch-Schonlein purpura?
Immune mediated vasculitis of childhood that often occurs after mild illness such as URI
- More common in boys and in fall/winter
- Abdominal pain, palpable purpura, arthralgias, renal disease
- Rare: SCROTAL PAIN AND SWELLING
- Intussusception is a can be a complication (currant jelly stool) but small bowel/ileo-ileal (vs ileocecal)
42
Brutons agammaglobulinemia is also known as ___ and is characterized by ____. Pathophys and tx?
X-linked agammaglobulinemia
Recurrent bacterial infections (normal T lymphocyte count with low/absent B cells); sinusitis, otitis media, pneumona, etc
- Defect in Brutons tyrosine kinase; a signaling molecule in B cells at all stages
- Tx: Regular infusions of IVIG
43
Type I Renal Tubule Acidosis is often a genetic disorder associated with:
Nephrolithiasis
44
Type 2 Renal Tubule Acidosis can be isolated but more commonly a component of ____ syndrome
Fanconi Syndrome, also with:
- Glucosuria
- Aminoaciduria
- Phosphaturia
45
How do you dx fanconi anemia? Findings?
Chromosomal breaks on genetic analysis +
Clinical findings
- Aplastic anemia and progressive bone marrow failure (usually macrocytic anemia!)
- Short stature, microcephaly, abnormal thumbs, hypogonadism
- Hypo/Hyperpigmented areas, cafe au lait spots, large freckles
- Strabismus, low set ears, middle ear abnormalities
46
Most common congenital cause of aplastic anemia in children?
Fanconi anemia
47
Pink stains/brick dust in neonatal diapers are worrisome. T/F?
False; they represent uric acid crystals; uric acid excretion is especially high at birth and decreases until adolescence
Parents should be reassured that urinary uric acid crystals rarely represent a disorder or purine metabolism (Lesch Nyhan); no workup if baby is feeding, urinating, growing appropriately.
48
Clinical features of cystitis vs pyelonephritis?
Cystitis: dysuria, urgency, frequency, hematuria, suprapubic pain
Pyelonephritis:
- CVA tenderness
- Fever >38
- Chills
- N/V
- +/- cystitis sx
49
Amenorrhea and absence of secondary sex characteristics is normal up to age 15. T/F?
FALSE
Isolated amenorrhea + presence of 2ndary sex characteristics is NORMAL up to age 16
Amenorrhea + absence of 2ndary sex characteristics = work up should not be delayed beyond age 14
50
What test would you get to evaluate for central vs peripheral amenorrhea?
FSH
- High? peripheral cause --> karyotype
- Low? central cause --> pituitary MRI for sella turcica lesion
NOT GnRH! GnRH is for evaluating precocious puberty
51
Symptoms of a newborn with tetanus infection?
Presents in first two weeks of life with poor suckling and fatigue --> rigidity, spasms, opisthotonus
52
Most common cause of isolated proteinuria in children? How do you manage?
Transient proteinuria that can be caused by fever, exercise, seizures, stress or volume depletion
Reevaluate with repeat urine dipstick testing on two separate occasions to rule out persistent proteinuria that might be due to renal disease
53
Most common bugs that cause bacterial meningitis in children >1 month?
S. pneumo
| N. meningitidis
54
How do you treat Hib meningitis?
Dexamethasone
55
How do you treat bacterial meningitis in >1 mo old?
IV vanco + ceftriaxone OR
| Cefotaxime
56
Coarctation of aorta is seen in 7% of Turners. What are some clues to COA?
Occasional headaches
Increased BP in both arms
Leg muscle fatiguability due to lower extremity hypoperfusion
Continuous murmur heard all over the chest
57
What is PKU?
Phenylketonuria
- ARecessive
- Deficiency of phenylalanine dehydroxylase --> inability to metabolize phenylalanine to tyrosine --> build up of phenylalanine and its neurotoxic metabolites --> INTELLECTUAL DISABILITY AND SEIZURES
- Also get fair complexion and MUSTY ODOR
58
How is PKU dx'd? What kinds of foods should they avoid?
Newborn screen via tandem mass spec
If PKU is suspected later in life (since initially asymptomatic), get a quantitative amino acid analysis that will show elevated phenylalanine
AVOID HIGH PROTEIN FOODS
59
Batteries swallowed by kids always need to be removed by endoscopic removal. T/F?
FALSE
If its lodged in esophagus by XR, then YES
If its past the esophagus, 90% of cases pass battery uneventfully
60
Hydroceles disappear spontaneously by the age of 12 months. T/F?
True- you can safely observe
| If they persist, remove surgically due to risk of INGUINAL HERNIA
61
Chromosomal deletion of 5p? Presentation?
Cri-du-chat
- Microcephaly
- Hypotonia
- Short stature
- CAT LIKE CRY
- Moonlike facies
- B/l epicanthal folds
- Wide-flat nasal bridge
62
What signs/sx would you expect to see in Vit B2 deficiency?
Riboflavin deficiency
- Angular cheilitis
- Stomatitis
- Glossitis
- Normocytic/normochromic anemia
- Seborrheic dermatitis
63
Vesicoureteral reflux is a risk factor for ______, which can lead to ____
Risk factor for recurrent UTIs, can lead to renal SCARRING
- All children with a first febrile UTI between 2-24 months should get a renal ultrasound to evaluate for renal abnormalities
- If they get recurrent UTIs, they should get a VCUG to evaluate for VUR
64
What is atlantoaxial instability and who would you suspect it in?
Instability due to excessive laxity in the posterior transverse ligament --> increased mobility between atlas and axis (C1 and C2)
Seen in 10-15% of Down's Syndrome pts; only 1-2% are symptomatic
Sx:
- Behavioral changes
- Torticollis
- Urinary incontinence
- Vertebrobasilar sx like dizziness, vertigo, diplopia
- UMN signs like positive babinski, spasticity, hyperreflexia
65
Contraindications to rotavirus vaccine? When is it usually given? Live or inactivated?
Usually given between 2-6 months, LIVE attenuated
Contra:
- Anaphylaxis to vaccine ingredients
- Hx of intussusception
- Hx of uncorrected congenital GI malformation (e.g. Meckel's)
- SCID
66
Oral doxycycline is used as first line to treat lyme disease. T/F?
True-ish
| - Contraindicated in
67
Features of septic arthritis of knee?
```
Fever >38.5 (101F)
Inability to bear weight
WBC >12,000
ESR >40mm/hr
CRP >2mg/dL
```
68
Most common cause of hip pain in children? Tx?
Transient synovitis
- Tx: ibuprofen and rest
- No lab abnormalities or fever
- Get bilateral hip XR to evaluate for Legg-Calve-Perthes disease
69
What is Legg-Calve-Perthes disease? Population? Presentation?
Idiopathic avascular necrosis of the femoral head
- Onset between 4-9 yo
- More in caucasians and Asians and boys 4:1
- Active, thin boys, small for their age
- Slightly painful limp w/ decreased internal rotation and abduction of hip
70
How do you dx and treat Legg-Calve-Perthes?
Dx: AP and frogleg lateral XR of pelvis
- Look for increased density in the affected femoral head or
- Crescenteric subchondral fracture in the femoral head - "CRESCENT SIGN"
Tx:
- Containment so femoral head stays in acetabulum
- PT and restrict vigorous exercise
- Surgery if >50% damage to femoral head or if there is movement of femoral head out of acetabulum
71
All vaccinations should be given according to CHRONOLOGICAL/GESTATIONAL age in preterm infants with the exception of ____
Chronological
| Weight should be 2kg or more before first Hep B vaccine
72
Live attenuated vaccines can be safely given to immunocompetent infants regardless of gestational age. T/F?
TRUE
| *First dose of MMR and varicella typically given around 1 year
73
What s/s would you look for in sepsis?
```
High fever
Hypotension
Lethargy
Neutrophil predominant leukocytosis
Bandemia
```
74
Describe rubella and its course. Vs Measles?
Rubella
- RNA togavirus
- Asymptomatic/mild disease 2-3 weeks after inhalation of RESPIRATORY DROPLETS
- Erythematous, "pink" maculopapular exanthem begins on face --> rest of body in a cephalocaudal and centrifugal pattern --> lasts for spread down to chest and upper extremities in the next 24 hours
75
Most common complication and cause of mortality of measles?
```
Bacterial pneumonia!
Other common complications:
- Otitis media
- Laryngotracheitis
- Encephalomyelitis
- Subacute sclerosing panencephalitis (rare late complication)
```
76
Management of measles?
Vitamin A can improve outcomes
SUPPORTIVE CARE
PEP with immunoglobulin in high risk (children with HIV, immunodeficiencies)
77
Most serious complication of rubella?
Congenital rubella syndrome
- Occurs after primary maternal infection during FIRST trimester --> fetal anomalies occur in 30-50%
- Blueberry muffin baby; purpura, thrombocytopenia, hepatosplenomegaly, jaundice
- Congenital cataracts
- PDA
- Sensorineural hearing loss
78
Dx and management of rubella?
Dx: Viral culture and serology/PCR
Tx: SUPPORTIVE
79
Dx criteria for febrile seizure?
```
Age 6mos-6years
Fever >100.4/38.4
No history of previous AFEBRILE seizures
No CNS infection
No acute systemic metabolic cause of seizure
```
80
Risk factors for febrile seizure?
- Fever from mild viral (influenza, adeno, HHV6) or bacterial infection
- Immunizations (DTaP, MMR)
- Family history
81
What is considered "mild dehydration" and how does it present?
3-5% volume loss
| - Presents with history of decreased intake or increased fluid loss with minimal or no clinical sx
82
What is considered "moderate dehydration" and how does it present?
6-9% volume loss
- Decreased skin turgor
- Dry mucus membranes
- Tachycardia
- Irritability
- Delayed cap refill
- Decreased UOP
83
What is considered "severe dehydration" and how does it present?
10-15% volume loss
- Cool, clammy skin with decreased cap refill
- Cracked lips
- Dry mucus membranes
- Sunken eyes
- Sunken fontanelle
- Tachycardia
- Lethargy
- Minimal/no UOP
* **CAN PRESENT WITH HYPOTENSION AND SHOCK SX WHEN SEVERELY DEHYDRATED
84
Who should get oral rehydration vs IV fluids?
Mild to moderate = oral rehydration
| Moderate to severe = IVF
85
How does congenital syphilis present?
Early sx:
- Cutaneous lesions on palms, soles of feet
- Hepatosplenomegaly
- Anemia
- Jaundice
- Rhinorrhea
Late congenital malformations (presents after 2yrs of age):
- Frontal bossing
- High arched palate
- Hutchinson teeth
- Interstitial keratitis
- Saddle nose
- Perioral fissures
86
How is syphilis dx'd? Tx of choice?
Serologic testing
Initial screening? VDRL, RPR, EIA
Confirmatory? FTA-ABS, TPPA
Tx: parental penicillin G
87
How does congenital rubella present?
```
Sensorineural hearing loss
Cataracts
Heart defects
Hepatosplenomegaly
Microcephaly
Thrombocytopenic purpura (blueberry muffin rash)
```
88
How does congenital CMV present?
```
Sensorineural hearing loss (usually unilateral)
IUGR
Hepatosplenomegaly
Petechiae, purpura
Microcephaly
Chorioretinitis (vs cataracts in rubella)
Periventricular calcifications
NO HEART INVOLVEMENT (vs rubella)
```
89
What are some indications to suspect a Vit A deficiency?
Suspect if a 2-3 year old has:
- impaired adaptation to darkness
- photophobia
- dry scaly skin
- xerosis conjunctiva
- xerosis cornea
- keratomalacia (wrinkled, cloudy cornea)
- bitot spots (dry, silver-gray plaques on bulbar conjunctiva)
- follicular hyperkeratosis on shoulder, buttocks, extensor surfaces
90
Most common helminthic infection in USA? How do you treat?
Pinworms
Single dose of mebendazole, albendazole, or pyrantel pamoate
***TREAT ALL CLOSE CONTACTS
91
Capillary blood specimen for lead comes back elevated. Whats the next step?
REPEAT with venous blood draw to confirm
| Cap/fingersticks are widely used for initial screening but have high rates of false positives
92
What is hereditary angioedema/how is it characterized?
RAPID onset of:
- Non-inflammatory edema of face, limbs, genitalia
- Laryngeal edema (life threatening!)
- Edema of intestines --> colicky abdominal pain
* No evidence of urticaria!
93
Pathophysiology of angioedema?
Can be hereditary or acquired
Hereditary: C1 inhibitor deficiency or destruction --> elevated C2b and bradykinin (edema producing factors)
Acquired: most commonly due to ACEI use --> elevated bradykinin
94
Patau syndrome presentation?
Trisomy 13
- Cleft lip
- Flexed fingers with polydactyly
- Ocular hypotelorism
- Bulbous nose
- Low set malformed ears
- Small abnormal skull
- Cerebral malformation
- Microphthalmia
- Cardiac malformations
- Scalp defects
- Hypoplastic or absent ribs
95
Edwards syndrome presentation?
- Microcephaly
- Prominent occiput
- Micrognathia
- Closed fists with index finger overlapping the 3rd and 5th overlapping 4th
- Rocker bottom feet
96
First step in caustic substance ingestion?
ABCs
Remove contaminated clothing
Hospitalize to monitor for developing airway compromise
Upper GI endoscopy within 24 hours to assess the extent of injury, otherwise perforation risk!
97
Only absolute contraindication to breastfeeding is _______
Galactosemia
98
Benefits to mom for breastfeeding?
Reduced risk of ovarian and breast cancer (NOT endometrium)
99
Granulosa tumor? Sertoli-Leydig tumors?
Can occur at any age
- Tumor produces excessive amounts of estrogen --> isosexual precocious puberty --> 2ndary sex characteristics, hypertrophy of breasts and external genitalia, pubic hair growth, and hyperplasia of uterus
Sertoli-Leydig tumors:
- produce androgens --> defeminization --> masculinization
100
_____ vaccination + ______ can prevent almost all cases of pneumococcal sepsis with sickle cell anemia
Pneumococcal vaccination + Penicillin prophylaxis can prevent almost all cases of pneumococcal sepsis in patients with sickle cell anemia
(twice daily prophylactic penicillin should also be given to children with sickle cell disease until they reach 5 yo)
101
Listeria monocytogenes in a pregnant women can cause _____ and the pregnant woman has sx of _____
3rd most common cause of meningitis
Pregnant women with listeria has:
- Nonspecific flu like sx like fever, aches, fatigue prior to delivery
102
Neonates with HSV encephalitis usually present with ______
Seizures
103
Fibromuscular dysplasia can present as ______. What physical exam findings or labs?
New onset hypertension in children (MOST COMMON CAUSE OF SECONDARY HYPERTENSION IN CHILDREN)
- Bruits or venous hum heard at the CVA
- Angiogram shows string of beads sign
104
Most common cause of nephrotic syndrome in children? Pathogenesis?
Minimal change disease
- T-cell mediated injury to podocytes cause increased molecular permeability to albumin
* Majority cases are idiopathic
105
Clinical features of minimal change disease? Management?
Edema
Proteinuria
Fatigue
NO hematuria
Tx: Empiric steroid therapy should be initiated upon suspicion
106
Waterhouse-Friderichson syndrome characterized?
SUDDEN vasomotor collapse
Skin rash (large purpuric lesions on flank) due to adrenal hemorrhage
--> due to renal hemorrhage
Signs of meningitis? Think meningococcemia; fulminant meningococcemia can occur after a meningococcus infection
107
Characteristics of NF1 and NF2?
NF1:
- Neurofibromin gene/NF1 tumor suppressor gene
- Chromosome 17
- Cafe au lait
- Multiple neurofibromas
- Lisch nodules
NF2:
- Merlin gene/NF2 tumor suppressor gene
- Chromosome 22
- Bilateral acoustic neuromas
108
Delayed or absent puberty + anosmia =?
Kallmann syndrome
- Karyotype = phenotype consistent
- FSH and LH are low consistent with GnRH deficiency
109
Pt has neutropenia, giant lysosomes in those neutrophils, , pancytopenia, hepatosplenomegaly, and frequent bacterial infections (usually S. aures). Dx?
Chediak-Higashi Syndrome
110
Jobs syndrome aka ______. Characterized by ______
Hyper IgE syndrome
- Chronic pruritic dermatitis
- Recurrent staph infections (skin and respiratory)
- Elevated IgE
- Eosinophilia
- Coarse facial features
111
Friedreich ataxia?
Autosomal recessive trinucleotide repeat disorder (Chr 9, encoding frataxin)
- Muscle weakness
- SCOLIOSIS
- Loss of DTRs, vibratory sense, proprioception
- Staggering gait
- Frequent falling
- Pes cavus
- Nystagmus
- Hammer toes
- DM
- Hypertrophic cardiomyopathy
- Presents in childhood as kyphoscoliosis
112
Signs to look out for in neonatal sepsis (including meningitis) other than fever?
- Neonatal sepsis can present with fever or HYPOthermia (
113
Child with a 2 week history of shoulder pain. Xray shows lytic lesion of right humeral head. Labs show mild hypercalcemia, otherwise normal. Most likely dx?
Langerhans histiocytosis
| - vs primary hyperparathyroidism; most common cause being parathyroid adenoma and thats typically in pts >50yo.
114
Most common congenital heart malformation?
VSD
115
Murmur difference between isolated VSD vs TOF?
VSD:
- Pansystolic
- Loudest at left LOWER sternal border
- Diastolic rumble at apex due to increased flow across mitral valve
TOF:
- Harsh, systolic ejection murmur
- Loudest at left UPPER sternal border from the pulmonary stenosis (poor pulmonary blood flow through a stenotic pulmonary valve => single S2)
116
A 9 mo old should be able to babble, use mama/dada nonspecifically and respond to their own name. T/F?
TRUE
117
When does separation anxiety start? How long does it last?
Starts between 9-18 months (Uworld table says 12mo); Lasts 2-4 months
118
Risk factor for membranous nephropathy?
Active Hep B infection
| positive HBsAg, HBeAg and negative for anti-HBsAg
119
What is HUS?
Caused by shiga-like toxin (from EHEC O157:H7)
- Triad of ANEMIA, THROMBOCYTOPENIA, and ACUTE RENAL FAILURE (from microthrombi forming on damaged endothelium)
- -> mechanical hemolysis (schistocytes on blood smear), platelet consumption, decreased renal blood flow)
120
Nephritic cause and findings?
Due to GBM disruption
- Hypertension
- Increased BUN and Creatinine
- Oliguria
- Hematuria
- Proteinuria (
121
Nephrotic cause and findings?
Podocyte disruption --> impaired charge barrier
- Massive proteinuria (>3.5g/day)
- Hypoalbuminemia
- Hyperlipidemia
- Edema
122
What is McCune Albright Syndrome?
Type of mosaicism
- Mutation affecting G protein signaling
- Sporadic condition
- 3 P's
- - Precocious puberty
- - Pigmentation (cafe au lait)
- - Polyostotic fibrous dysplasia (multiple bone defects)
123
CVID vs Bruton's agammaglobulinemia?
CVID: No absence or decrease in B cells
Brutons: Absence/decreased B cells, X-linked
Both can have decreased IgG, A, M, E
124
Vocab of a 12, 15, 18, 24, and 36 month old?
12: mama, dada, one other word
15: mama, dada, 3-5 other words
18: 5-20 words
24: 150-300 words, can combine words into short sentences, half intelligible to strangers
36: 1000 words, 75% intelligible, 3-4 word sentences, uses pronouns correctly
125
Why do females less than 3 months develop vaginal bleeding?
Female infants less than 3mos can develop spotting or bleeding
- Mom's estrogen crosses placenta creating a pubertal effect.
- Tx: REASSURANCE
* **IF it has an odor or discoloration, consider abuse
126
What viral infection is associated with atopic dermatitis?
Eczema herpeticum
- Usually superimposed on healing atopic dermatitis after an exposure to HSV
- Numerous UMBILICATED vesicles
- Freq accompanied by fever and adenopathy
- Can be LIFE THREATENING --> TX WITH ACYCLOVIR
127
Tumor that presents with progressively increasing pain that worsens at night WITHOUT relation to physical activity? (hint: prox femur is the most common site)
Osteoid osteoma
- Benign bone forming tumor in adolescence/early adulthood, more common in males
- Pain usually relieved by NSAIDs
128
People with Tourettes have a higher chance of developing _____ disorder (60%) and ______ disorder (27%)
ADHD 60%
| OCD 27%
129
Leading cause of mortality in infants 1mo-1yr old?
SIDS
130
What are the long term sequalae of bacterial meningitis?
- Hearing loss
- Loss of cognitive function (e.g. regression in development)
- Seizures
- Mental retardation
- Spasticity or paresis
131
Pt is anemic and has microcytosis. How do you tell between IDA and a thalassemia?
Look at the RDW
- IDA would have increased
- Thalassemia would have normal RDW
132
Technetium 99m pertechnetate scan is used to detect ______ in what condition?
Gastric mucosa
| Meckel's diverticulum
133
ITP? Tx?
Abnormal low platelets (
134
Homovanillic and vanillylmandelic acid are increased in urine. Dx?
Neuroblastoma
135
Features of neuroblastoma?
Most common extracranial solid tumor of childhood.
Most common tumor of adrenal medulla
- Originates in NEURAL CREST CELLS
- Occurs anywhere along sympathetic chain
- Characteristic homer wright rosettes
- Most commonly in abdomen
- Calcifications and hemorrhages seen on Xray and CT
136
Wilms tumor arises from what embryonic precursor?
Metanephros (embryonic precursor to renal parenchyma)
137
Diamond Blackfan syndrome?
Congenital hypoplastic anemia
- MACROCYTIC pure red cell aplasia associated with severe congenital such as short stature, webbed neck, cleft lip, shielded chest, triphalangeal thumbs
138
Fanconi's anemia features?
Auto recessive
- Progressive pancytopenia and macrocytosis
- Cafe au lait
- Microcephaly
- Microopthalmia
- Short stature
- Horseshoe kidney
- Absent thumbs
139
Fetal hydantoin syndrome is caused by _____. Sx?
Prenatal exposure to phenytoin
- Nail and digit hypoplasia
- Dysmorphic facies
- Mental retardation
140
Features of growing pains? Tx?
Occurs mostly at night, resolves by morning
Affects lower extremities (usually bilateral)
Normal physical
Tx
- Parental education and reassurance
- Massage, heat, stretching, analgesics
141
Patients with leukocyte adhesion defect type 1 suffer from?
```
Autosomal recessive
CD18/LFA-1 integrin
- Delayed umbilical separation
- Recurrent bacterial infections of the skin and mucosal surfaces
- Necrotic periodontal infections
```
Leukocytosis + neutrophil predominance
- Complete absence of neutrophils in inflamed/infected areas
142
How do you manage a positive Barlow/Ortolani sign?
If you have:
- Soft click
- Leg-length discrepancy
- Asymmetric inguinal skin folds
- -> get diagnostic imaging!
- Ultrasound of hips if
143
Heart condition associated with rheumatic fever? Management?
Mitral stenosis with LOUD FIRST HEART SOUND AND MID DIASTOLIC RUMBLE
- All patients with an initial dx of rheumatic fever should be treated with antibiotics to eradicate GAS whether or not pharyngitis is present at that time
Rheumatic fever pts have an increased risk of recurrent episodes and progression to rheumatic heart disease and repeated infections with GAS
- IM benzathine penicillin G every 4 weeks for prophylaxis
144
Scarlet fever vs rheumatic fever? Tx?
Scarlet fever = from Group A Strep that produces pyrogenic exotoxins.
Findings:
- scarlitiniform exanthem (aka the sandpaper rash)
- pharyngitis plus circumoral pallor
- erythematous papular rash diffusely that feels like sandpaper
- Pastia's lines (rash over flexor surfaces of arms)
Tx: Penicillin V
Rheumatic fever = post-infectious sequelae of strep pharyngitis characterized by the Jones criteria
145
Chlamydial vs gonococcal conjunctivitis?
Chlamydial:
- milder, presents 5-14 days after birth
- usually presents with chemosis
- watery mucoid discharge, LESS PURULENT than gonococcal
Gonococcal:
- 2-5 days after birth
- copious, PURULENT ocular drainage and eyelid swelling
- Prevented by topical erythromycin ointment within 1 HOUR OF BIRTH
146
How do you tell the difference between Tay sachs vs niemann pick other than the enzyme deficiency?
Tay sachs:
NO hepatosplenomegaly
YES hyperreflexia
Niemann pick:
YES hepatosplenomegaly
NO hyperreflexia (areflexia)
147
What is Gaucher disease?
Gaucher disease is characterized by β-glucocerebrosidase deficiency, which causes an abnormal accumulation of glucocerebroside in the reticuloendothelial system.
Bone marrow aspirate shows the typical Gaucher cells engorged with glucocerebroside. Replacement of marrow with these cells leads to
- ANEMIA
- LEUKOPENIA
- THROMBOCYTOPENIA
148
Puberty is said to be delayed in males if physical changes are not apparent by ___ years of age.
14
149
What is Waardenburg syndrome?
Waardenburg syndrome (AD)
- deafness and pigmentary changes
- distinctive white forelock
- heterochromia irides
- unilateral or bilateral congenital deafness
- lateral displacement of the inner canthi.
150
What commonly causes cushings?
Exogenous adrenocorticotropic hormone or glucocorticoids
*It can also be caused by bilateral adrenal hyperplasia
LOOK FOR STRIAE
151
Child recently recovered from diarrheal illness, has fever, thrombocytopenia, microangiopathic hemolytic anemia and schistocytes on peripheral smear. Dx?
HUS
152
7 year old with fever and left sided neck swelling. Red, tender, fluctuant cervical mass. Everything else is fine/up to date. No dental caries. What is the best antibiotic tx?
Clindamycin (+ I/D)
- Acute unilateral cervical adenitis is most often caused by Staph aureus and streptococcus (clinda also covers MRSA)
* Bactrim is good against MRSA but poor activity against GAS
153
Slower onset of unilateral cervical lymphadentis? Patient lives in house with dog, cat, sister, and parents. How would you treat?
Bartonella henselae
- Slower onset
- Tender but minimal cellulitis
- Exposure to kittens or cats
NO TREATMENT NEEDED
154
Unilateral cervical lymphadenitis with history of dental caries/periodontal disease = pathogen, tx?
Anaerobic bacteria
- Older children
- Dental caries
- Periodontal disease
Tx:
- Clindamycin
- Amoxicillin/Clavulanic acid
155
Prader Willi deletion? Clinical features? Complications?
```
Deletion: 15q11-q13
Clinical features
- Hypotonia
- Hyperphagia/obesity
- Intellectual disability
- Short stature
- Intellectual disability
- Dysmorphic features (narrow forehead, almond shaped eyes, downturned mouth)
```
Complications:
- Sleep apnea (70%)
- DMII (25%)
- Gastric distention/rupture
- Death by choking
156
Acquired torticollis is relatively common in children. T/F? What are some causes?
True, relatively common
- Asymmetric muscle activity
- URI
- Minor trauma
- Cervical lymphadentitis
- Retropharyngeal abscess
- Atlantoaxial subluxation
157
Congenital heart disease occurs in >50% of Trisomy 18 patients. T/F?
True
| VSD is most common
158
Congenital rubella is associated with which heart condition?
PDA
159
RPR test is positive. You should be thinking syphilis and ____
SLE;
Confirm SLE with anti-Smith and/or anti-DNA antibodies
Syphilis;
Confirm with FTA
160
Lens dislocation between Marfans and _____?
Marfans: lens upward dislocation
Homocystinuria: lens downard dislocation
161
Allergic contact dermatitis presents with _____ and is due to _____
Erythema, edema, pruritis, tiny vesicles
Weepy or crusted lesions
Due to IV hypersensitivity
162
How do you treat most cases of a small VSD?
Nothing
| Most small VSDs close spontaneously in 75% of children by 2yo without longterm sequelae
163
Henoch Schonlein purpura lab shows _____ platelets
NORMAL
164
Pregnant mom brings in son with low bicarb level, hypotension, and cool extremities is consistent with ____ ingestion and tx is with ____
Iron poisoning
- free radical formation --> abdominal pain, hematemesis, hypovolemic shock, metabolic acidosis
Tx: IV volume resuscitation and IV deferoxamine
165
Aplastic crisis in sickle cell is characterized by:
transient arrest of erythropoiesis
- severe drop in hemoglobin and absence/very low recticulocytes
* May be caused by infections like B19
* *NOT THE SAME AS APLASTIC ANEMIA
- which occurs in people without sickle cell and has pancytopenia
166
Infant botulism and _____ are both causes of floppy baby syndrome
Werdnig-Hoffman syndrome
| - AR disorder, degeneration of anterior horn cells and cranial nerve motor nuclei
167
How do infants with congenital hypothyroidism present?
Initially appear normal at birth (thats why they get newborn screened! along with galactosemia and PKU)
- apathy, weakness
- hypotonia, sluggish movement
- large tongue
- abdominal bloating
- umbilical hernia
- other: pathologic jaundice, difficulty breathing, noisy respiration, hypothermia, refractory macrocytic anemia
168
Lab findings that can be seen in measles?
Leukopenia (t cell-penia)
| Thrombocytopenia
169
What is a cholesteatoma?
Can be congenital or acquired (2/2 chronic middle ear disease)
- overgrowth of desquamated keratin debris within middle ear space --> may erode ossicles, mastoid air cells --> CONDUCTIVE hearing loss
170
Typical presenting sx of cholestatoma?
New onset hearing loss OR chronic ear drainage despite antibiotic therapy
171
Any male adolescent who presents with epistaxis, localized mass, and a bony erosion on the back side of the nose has _____ until proven otherwise.
Angiofibroma
| reactive nasal polyps are more associated with infections or alelrgies and do not cause bony erosions
172
Cafe au lait, ash leaf spots, and port wine stains are associated with which syndromes?
Neurofibromatosis 1
Tuberous sclerosis
Sturge-Weber
173
Typical Von-Gierkes disease (aka ____) presentation?
Type I glycogen storage disease
```
3-4mo old
Hypoglycemia (may cause seizures)
Lactic acidosis
Hyperuricemia
Hyperlipidemia
*Characteristic DOLL-LIKE FACE (fat cheeks)
- Thin extremities
- Short stature
- Protuberant abdomen (due to enlarged liver and kidneys)
```
174
Type II glycogen storage disease aka _____, enzyme? sx?
Pompe's disease
Acid maltase deficiency
- Present in first few weeks of life as "floppy baby"
- Feeding difficulties
- Macroglossia
- Heart failure (due to progressive hypertrophic cardiomyopathy)
175
Type III glycogen storage disease?
Glycogen debranching enzyme
Similar clinical sx as Type 1 (hepatomegaly, hypoglycemia, hyperlipidemia, growth retardation)
but Type III have elevated liver enzymes, fasting ketosis, NORMAL blood lactate and uric acid concentrations
176
Sturge weber syndrome?
```
Congenital, NON INHERITED
Developmental anomaly of NEURAL CREST CELLS
STURGE
S: Sporadic, stain (port wine stain along trigeminal nerve)
T: Tram track calcifications
U: unilateral
R: retardation
G: glaucoma, GNAQ gene
E: epilepsy
```
177
Cat bites should be treated prophylactically. T/F?
True;
| should be with 5 day course of amox/clavulanic acid
178
Classic triad of biliary cyst? Dx?
Pain
Jaundice
Palpable mass
*majority of cysts present
179
Erythema multiforme?
Acute, self limited reaction to certain infections
HSV most commonly associated
- targetoid papule or plaque
- common PALMAR INVOLVEMENT
180
On exam, how do you differentiate between a benign and pathologic murmur?
Usually grade I or II
benign: decreases with standing, valsalva
pathologic: increases with standing, valsalva
*benign are also early or mid-systolic
181
Myotonic muscular dystrophy is characterized by:
- Grip myotonia
- Facial weakness
- Foot drop
- Dysphagia
- Cardiac conduction abnormalities
- Cataracts
- Testicular atrophy/infertility
- Baldness
182
Quantitative pilocarpine iontophoresis is the gold standard in dxing ____
Cystic fibrosis (tests for sweat chloride)
183
Cephalohematoma? Presentation?
Subperiosteal hemorrhage
- always limited to surface of ONE cranial bone
- no discoloration of overlying scalp
- presents as scalp swelling few hours after birth
- tx: nothing, will reabsorb within 2 week-3mo
184
Caput succedaneum?
Diffuse, sometimes ecchymotic, swelling of scalp
- Usually involves the portion of the head presenting during vertex delivery
- may extend over midline and suture lines
185
Onset of OCD may be associated with a recent _______
Streptococcal infection
| OCD tx: high dose SSRI
186
Other than Hib (since vaccination), what are causes of epiglottitis?
Group A beta-hemolytic Strep
Moraxella
S. pneumo
187
What is Reye syndrome?
Reye syndrome is an acquired mitochondrial hepatopathy that results from the interaction of an influenza (or varicella) infection and aspirin use.
- Hyperammonemia
- Transaminitis
- Coagulopathy (increased PT, aPTT, INR)
- Vomiting
- Mental status change
- FULMINANT HEPATIC FAILURE AND ENCEPHALOPATHY
- MICROvesicular steatosis
Liver enzymes and ammonia are elevated, but total bilirubin is not. Patients initially present toward the end of a viral infection with sleepiness, emesis, and abnormal liver functions. As the disease progresses, the patient may develop seizures, coma, hyperventilation, and decorticate posturing.
Death is usually from cerebral edema and subsequent herniation.
188
Lab tests to confirm spherocytosis?
Acidified glycerol lysis test
Eosin-5-maleimide test
(spherocytosis? look for coombs negative, family hx, reticulocytosis, hyperbilirubinemia
189
What sx would you look for when you get an erythrocyte CD55 and CD59 protein test?
Hemolytic anemia
Cytopenia
Hypercoagulability
Coombs negative
190
Other than looking at bilirubin, what other lab value will help you distinguish anemia of prematurity from hemolytic disease of the newborn?
Reticulocyte count (increased in hemolytic)
191
Other than erythromycin, other risk factors for infantile hypertrophic pyloric stenosis?
First born boy
| Formula feeding
192
5 day old infant presents with bleeding and mom didnt get consistent prenatal care. Dx?
Vitamin K deficiency
- increased PT and aPTT
- easy brusing, bloody stools
- intracranial hemorrhage
