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Step 2 Last Minute > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

Kid with abdominal pain, obstructive jaundice, and a palpable RUQ mass

A

Biliary/choledochal cyst (resect it)

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2
Q

Liver path in Reye syndrome

A

Microvesicular steatosis

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3
Q

3 Hz spike-and-wave on EEG

A

Absence seizures (can be provoked with hyperventilation)

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4
Q

Criteria for Kawasaki disease

A

5 days of fever plus 4/5 of:

  • Conjunctivitis
  • Mucositis (fissured lips, strawberry tongue)
  • Truncal rash
  • Erythema of hands/feet
  • Cervical lymphadenopathy
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5
Q

Triad of Henoch-Schonlein purpura

Two complications?

A

Triad (IgA vasculitis classically followed URI)
1. Lower extremity palpable purpura
2. Arthralgias/arthritis
3. Colicky abdominal pain
Complications:
1. Normal complement glomerulonephritis (IgA mediated)
2. Ileo-ileal intussusception.

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6
Q

What pathological type of disease is Henoch-Schonelin purpura?

A

Normal complement, IgA-mediated small vessel vasculitis

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7
Q

Kid with symmetric arthritis, longstanding daily fever, pink macular rash. Diagnosis?

A

Systemic juvenile idiopathic arthritis (Still’s disease)

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8
Q

Normal growth in first year of life

A

Triple weight, increased height by 50%

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9
Q

Vaccine that can lead to progressive neurologic deficits and encephalopathy

A

Pertussis (finish series with Td only)

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10
Q

CI to rotavirus vaccine

A
  1. Hx or intussusception or knwon uncorrected congenital GI tract malformation (e.g. Meckel’s).
  2. SCID (live attenuated).
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11
Q

Management of congenital umbilical hernia

A

Observe till age 5, surgery if persists at 5 years or if causes problems

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12
Q

Newborn cyanosis with left axis deviation and decreased pulmonary markings

A

Tricuspid atresia (requires both ASD and VSD to be compatible with life)

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13
Q

Metatarsus adductus vs. clubfoot

A

Metatarsus adductus: medial deviation of forefoot but normal hindfoot, flexible, requires only reassurance.

Clubfoot: medial/upward deviation of both forefoot and hindfoot, rigid, requires immediate serial manipulations and casting.

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14
Q

Neonate that gradually develops apathy, weakness, hypotonia, abdominal pain, an umbilical hernia, and a large tongue

A

Congenital hypothyroidism (most commonly due to thyroid dysgenesis, part of newborn screen)

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15
Q

Infant with inspiratory stridor only that is worse when supine?

Infant with both inspiratory and expiratory stridor that improves with neck extension?

A

Inspiratory only: Laryngomalacia (diagnose with direct laryngoscopy)

Inspiratory and expiratory: Vascular ring

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16
Q

Vascular compromise in shaken baby syndrome

A

Shearing of subdural veins (also see retinal hemorrhages)

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17
Q

Genetic disease associated with congenital lymphedema. Genetic cause?

A

Turner syndrome (45XO)

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18
Q

Aortic involvement in Turner syndrome

A

Aortic coarctation, aortic root dilation (risk of dissection), bicuspid AV

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19
Q

Genetic disease associated with atlantoaxial instability. Genetic cause?

A

Down syndrome (trisomy 21)

20
Q

Genetic disease associated with clenched hands with overlapping fingers. Genetic cause?

A 
Edward syndrome (trisomy 18)
(Also seen: micrognathia, prominent occiput, low-set ears, limited hip abduction, rocker-bottom feet)
21
Q

Loss of paternal copy of 15q11-13?

Maternal copy?

A

Paternal: Prader-Willi (polyphagia, obesity, hypotonia)
Maternal: Angelman syndrome (happy puppet)

22
Q

Genetic disease associated with interrupted aortic arch and truncus arteriosus. Genetic cause?

A 
DiGeorge syndrome (22q11 microdeletion)
(CATCH-22: Cardiac abnormalities (also ASD/AVD), Abnormal facies, Thymic aplasia, Cleft palate, Hypoparathyroidism)
23
Q

Genetic disease with delayed muscle relaxation, such as inability to relax after a handshake. Genetic cause?

A

Myotonic dystrophy (AD trinucleotide repeat)

24
Q

Genetic disease with big baby with big tongue and hemihyperplasia?
What are they at risk for?

A

Beckwith-Wiedemann syndrome (usually a sporadic mutation). Screen for Wilm’s tumor and hepatoblastoma with US and AFP.

25
Q

Marker elevated in 21-hydroxylase deficiency CAH

A

17-hydroxyprogesterone

26
Q

Pure red cell aplasia with triphalangeal thumbs

A

Diamond-Blackfan anemia

27
Q

Pancytopenia with absent thumbs

A

Fanconi anemia

28
Q

Bilateral cataracts with FTT, jaundice, and hypoglycemia. Genetic cause?

A

Galactosemia. Mutation in galactose-1-phosphate uridyl transferase
(Galactokinase deficiency: cataracts only)

29
Q

Marfanoid habitus with:

  • Upward lens dislocation?
  • Downward lens dislocation?
A

Upward: Marfan’s
Downward: Homocystinuria (look for intellectual disability and hypergoagulability)

30
Q

Genetic disease with musty/mousy odor?

A

Phenylketonuria (also see intellectual disability, eczema, fair complection - part of newborn screen, complications prevented with low-phenylalanine diet)

31
Q

Mutation in Lesch-Nyan

A

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) (leads to hyperuricemia) (X-linked)

32
Q

Genetic disease with fasting hypoglycemia and hypoglycemia seizures and lactic acidosis. Genetic cause?

A

Von Gierke disease (type 1 glycogen storage disease). Deficiency in glucose-6-phosphatase (will see hepatomegaly but no splenomegaly or heart involvement)

33
Q

Name the disease and mutation:
Developmental regression and cherry-red macula with:
1. Hepatosplenomegaly and areflexia
2. No hepatosplenomegaly and hyperreflexia

A

Hepatosplenomegaly and areflexia: Niemann-Pick, sphingomyelinase deficiency (Pick your nose with your sphinger)
Hyperreflexia: Tay-Sachs, beta-hexosaminidase A deficiency

34
Q

Raised, tan-colored harmatromas in the iris. Genetic cause?

A

Lisch nodules, seen in NF1 (also look for cafe-au-lait spots, clustered freckles, neurofibromas, optic gliomas)

35
Q

Ash-leaf spots and shagreen patches

A

Tuberous sclerosis (also facial angiofibromas and hamartomas of many organs, e.g. renal angiomyolipoma)

36
Q

Normal complement glomerulonephritis accompanied by hearing loss. Genetic cause?

A

Alport syndrome. X-linked mutation in type IV collagen

37
Q

A kid is diagnosed with glomerulonephritis. What is a screening test you perform?

A

Hearing (for Alport syndrome)

38
Q

What can be used to prevent RSV in very high-risk neonates?

A

Palivizumab (only for <29 weeks, chronic lung disease of prematurity, hemodynamically significant congenital heart disease)

39
Q

Treatment for croup

A

Mild respiratory distress: corticosteroids

Moderate/severe respiratory distress: Nebulized epinephrine

40
Q

Pertussis treatment

A

Azithromycin or other macrolide. Give to the patient and all close contacts, regardless of vaccination status.

41
Q

When do you get a bladder ultrasound for a kid with UTI?

When do you get a VCUG?

A

US: Febrile UTI in a kid <2 yrs, or recurrent febrile UTIs

VCUG: Abnormal US (hydronephrosis, scarring), neonate (<1 mo), kid <2 yrs with recurrent UTIs, or UTI with organism other than E. coli

42
Q

Treatment for severe measles

A

Vitamin A

43
Q

Specific signs of congenital CMV

A

Periventricular calcifications

(Note that congenital Toxo leads to diffuse intracerebral calcifications)

(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).

44
Q

Specific signs of congenital Toxo

A

Diffuse intracerebral calcifications, macrocephaly, severe chorioretinitis

(Note that congenital CMV leads to periventricular calcifications)

(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).

45
Q

Specific signs of congenital rubella

A

Sensorineural deafness, cataracts, heart defects (e.g. PDA)

(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).

46
Q

Specific signs of congenital syphilis

A

Snuffles (rhinorrhea), desquamating/bullous maculopapular rash, abnormal long-bone x-rays.

(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).

Step 2 Last Minute (19 decks)

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