Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Boards Studying > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

Infant born with closed fists, overlapping finger, micrognathia, prominent occiput, rocker bottom feet, IUGR

A

Edwards Syndrome (trisomy 18)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

2-6 month old pt with loss of motor milestones, hypotonia, cherry red macula, feeding difficulties, hepatosplenomegaly, areflexia

A

Niemann-Pick disease (sphingomyelinase deficiency)

- supportive tx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

2-6 month old with loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hyperreflexia

A

Tay-Sachs (beta-hexosaminidase A deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Comorbid conditions with tourettes

A

ADHD and OCD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Pt with high fever for 6 days, red lips and eyes, rash on trunk, red and edematous hands and feet

A

Kawasaki disease

- at risk for coronary artery aneurysm and MI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Newborn in respiratory distress with CXR showing hyperinflated lungs with fluid in the interlobar fissures

A

Transient tachypnea of the newborn

- delayed resorption and clearance of alveolar fluid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Anomalies in kids with tracheal and/or esophageal defects

A

VACTERL (vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, limb)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Child with periorbital edema, mass anterior to left flank, weight loss, rapid, jerking movements of both eyes

A

Neuroblastoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Newborn with bilious vomiting, no bowel movements and triple bubble sign on abdominal x-ray

A

jejunal atresia

*double bubble - duodenal atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

newborn with desquamating rash on feet and buttocks, jaundice and clear rhinorrhea

A

syphilis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Child with 2 seizures, regression of speech, wide based gait, rubbing hands together

A

Rett syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

baby with vomiting, jaundice, poor weight gain, bilateral cataracts, hepatomegaly

A

galactose-1-phosphate uridyl transferase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

child with reccurent infections, blood in stool, thrombocytopenia, eczema

A

Wiskott-Aldrich syndrom - x linked (WASP gene)

- impaired cytoskeleton changes in leukocytes and platelets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

18 month old with recurrent sinus infections, rales and rhonchi in both lunds, PMI displaced to the right side of chest. Brother had similar infections

A

Kartagener syndrome (subset of primary ciliary dyskinesia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Tx of UTI in child

A

3rd gen cephalosporin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

3 year old boy with hx of multiple ear infections, pneumonia, giardia diarrhea, and small tonsils

A

X-linked agammaglobuinemia - abnormal B lymohicyte maturation

  • recurrent sinopulmonary and GI infections
  • absence of lymphoid tissue (tonsils, LN)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Tx of otitis externa

A

Topical ciprofloxacin +/- topical glucocorticoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Child with fever and diffuse maculopapular rash that began on face and spread to the body. Before rash patient had cough, eye tearing, runny nose/congestion. Pt from Zambia

A

Measles

-tx: vitamin A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

6 year old girl with precocious puberty, 2 large hyperpigmented macules and 2 long bone fractures when she was 4 and 5

A

McCune Albright

  • irregular cafe-au-lait spots
  • precocious puberty
  • fibrous dysplasia of bone
  • mutation in GNAS gene -> overproduction of pituitary hormones
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Child with biphasic stridor (improves with neck extension) and difficulty feeding

A

Vascular ring - great vessels encircle & compress trachea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Lethargic infant with “sticky” bloody stools. Inconsolablr crying and mild LLQ tenderness.

A

Intussusception

- do an US guided air contrast enema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Hirschsprung disease is associated with which disorder

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Benefits of breast milk compared to formula

A

70% whey and 30& casein protein - whey is more easily digested by infants
Breast milk also contains lactoferrin, lysozyme, and secretory IgA proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Child with first time seizure, erythematous macular lesion over left forehead and eye that’s been present since birth, right homonymous hemianopia, receptive and expressive language delay

A 
Sturge-Weber Syndrome
- GNAQ gene
- port wine stain (trigeminal VI/VII dist.)
- seizures/hemiparesis
- visual field defecits
- glaucoma
- leptomeningeal capillary-venous malformation
Dx: get MRI of brain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Child placed on penicillin for strep pharyngitis develops rash, polyarthralgia, and fever

A

Serum Sickness Syndrome

  • type III hypersensitivity (IC formation)
  • sx 1-2 weeks after starting B-lactam or SMX
  • can also be due to Hep B
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Flat blue-grey patches over infants sacrum and buttocks

A 
Mongolian spots (congenital dermal melanocytosis) 
- fades spontaneously
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Child with speech and motor delays. Genes show hypermethylation of FMR1 gene

A

Fragile X syndrome

  • speech and motor delays
  • long face, prominent forehead, protruding ears, marcoorchidism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

4 month old presents after a seizure. Has hepatomegaly and “doll-like” facies. Lab work shows hypoglycemia and lactic acidosis. Triglycerides and uric acid are also elevated. Patient is <5th percentile for weight

A

G6PD deficiency - inability to convert glycogen to glucose

29
Q

Child with single enlarged, warm, tender lymph node. Has a temp of 100. Most likely etiology

A

Staph aureus

- Abx: Clindamycin to cover for MRSA and strep

30
Q

Child has intermittent abdominal pain relieved by drawing his knees up to his chest. Has bloody bowels.

A

Intussusception

- air enema to tx

31
Q

Tx for baby if mother has chicken pox during labor

A

administer varicella Ig to infant if maternal infection developed 5 days before or 2 days after delivery

32
Q

Child with recurrent ear infections has persistent draining fluid from the ear. Ear exam shows some scarring of the TM, with peripheral granulation and some skin debris

A

Cholesteatoma

33
Q

Boy falls with toothbrush in mouth then develops hemiparesis on the right, right hemianesthesia and mild motor aphasia.

A

Carotid artery dissection

34
Q

2 year old presents for well visit. At age 4 months he was hypotonic. 3 months ago pt started developing involuntary movements of hands and feet, spasticity and dystonia. He also pinches himself and bangs limbs against the wall

A

Lesch-Nyhan Syndrome

  • x-linked R
  • def of hypoxanthine-guanine phosphoribosyltransferase
  • accumulation of hypoxanthine and uric acid
35
Q

6 year old presents with fever and painful swelling in groin. Pt had 4 previous episodes of cutaneous abscesses and a lung abscess. Pt’s cultures from affected lymph node grow aspergillus niger.

A

Chronic granulomatous disease

  • x-linked recessive
  • impaired intracellular killing by phagocytes
  • pulmonary & cutaneous infections
  • catalase + pathogens (staph aureus, serratia, burkholderia, aspergillus)
  • neutrophil function testing: dihydrorhodamine 123 test or nitroblue tetrazolium test
36
Q

Pt who drowned but is resuscitated is at risk for developing

A

ARDS - water washed out surfactant
cerebral edema (>5 min)
arrhythmia

37
Q

Tx for croup

A

mild (no stridor at rest): humidified air and corticosteroids
mod/severe (stridor at rest): steroids + nebulized epi

38
Q

13 day old girl with runny nose, cough, fussiness and 100 fever develops wheezes and crackles

A

RSV/bronchiolitis

- at risk for apnea and respiratory failure

39
Q

Gene defect in osteogenesis imperfecta

A

COL1A1 - type 1 collagen

- frequent fractures, blue sclera, conductive hearing loss

40
Q

Mutation in duchenne and becker muscular dystrophy

A

dystrophin

41
Q

Mutation in achondroplasia

A

fibroblast growth factor receptor 3 (FGFR3)

42
Q

Mutation in fragile X

A

FMR1

43
Q

Neonate with bilious vomiting and abdominal distension on day 15. NG tube placed for decompression. Abdominal xray shows a gasless abdomen. What to do next

A

Upper GI series - malrotation

- ligament of trietz will be on right side of abdomen

44
Q

Newborn screening exams after birth

A 
newborn screen
hyperbilirubinemia
hearing screen
pre- and post-ductal pulse ox
hypoglycemia
45
Q

Child with new developed clumsiness. Has new bitemporal hemianopia and diabetes insipidous. Supracellar calcified mass seen on brain imaging

A

craniopharyngioma

46
Q

Caput succedaneum

A

in the skin

CROSSES SUTURES

47
Q

Cephalohematoma

A

under the skin

DOES NOT CROSS SUTURES

48
Q

VACTERL

A 
Vertebra (xray sacrum)
Anus (xray)
Cardiac (echo)
TE fistula (xray with coiled tube)
Esophageal atresia
Renal (VCUG)
Limb (xray wrist)
49
Q

Long term complication of vesicoureteral reflux in children

A

renal scar formation

50
Q

Recurrent respiratory and GI infections in a young adult. What’s the underlying etiology

A

common variable immunodeficiency

  • really low IgG and low IgA and IgM
  • no response to vaccination
  • need Ig replacement therapy
51
Q

16 year old presents with splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone pain, delayed puberty

A

Gaucher disease

  • glucocerebrosidase def – accumulates in macrophages of bone, liver, spleen
  • lysosomal storage disease
52
Q

2 year old with chronic oligoarthritis, fever and rash

A

systemic juvenile idiopathic arthritis

53
Q

Unconjugated hyperbilirubinemia and dehydration in the first week of life

A

Breast feeding jaundice

- breast milk jaundice persists after the first week

54
Q

CD 19+

CD 3+

A

B cells

T cells

55
Q

Normal development until 6-18 months, then regression of speech, loss of purposeful hand movements, development of stereotypical movements (pill-rolling, twisting, kneading), gait abnormalities and breathing abnormalities

A

rett syndrome

56
Q

Potter sequence

A

oligohydraminos –> pulmonary hypoplasia, flat facies, limb deformities

57
Q

Newborn with no prenatal care has protruding tongue, decreased activity, hypotonia, umbilical hernia

A

congenital hypothyroidism

- untreated leads to intellectual disability

58
Q

Salter Harris Classification

A

Type I fracture through the physeal plate (often not detected radiographically)
Type II fracture through the metaphysis and physis (most common; up to 75% of all physeal fractures)
Type III fracture through the epiphysis and physis
Type IV fracture through the metaphysis, physis and epiphysis
Type V crush injury involving part or all of the physis

59
Q

congenital brain malformation with an absent or dysplastic cerebellar vermis and cystic dilation of the fourth ventricle

A

Dandy Walker malformation

60
Q

WAGR syndrome

A

Wilms tumor
Aniridia
GU abnormalities
Retardation

61
Q

bulging, blue dome-shaped, translucent membrane at the level of the vaginal introitus

A

imperforate hymen

- dx: pelvic US

62
Q

Most appropriate initial tx for tetralogy of fallot

A

knee to chest

63
Q

Cause of edema in turner syndrome baby

A

congenital lymphedema

- lymphatic network dysgenesis

64
Q

5 year old girl with marfanoid habitus, fair skin and eyes, and CVA (sudden weakness, +babinski and brisk DTRs

A

Homocystinuria

  • pts have elevated homocysteine and methionine
  • tx with B6, folate, B12
65
Q

newborn male with poor urine output, diminished lung volumes bilaterally

A

Posterior urethral valves

  • oligohydraminos in utero leads to lung hypoplasia
  • renal and bladder US
66
Q

pilocytic astrocytoma

A

most common brain tumor in kids

  • usually in cerebellar hemispheres
  • causes fine motor and coordination deficits
  • hydrocephalus
67
Q

Adopted baby drinking donated breast milk with swollen wrists and skull bones are soft and flexible to pressure

A

Rickets

- need vitamin D supplementation with breast milk

68
Q

Deep impression of the posterior esophagus at the level of T4 in a 2 year old.

A

Vascular ring (malformation of aortic arch)

Boards Studying (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions