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MCCQE1 ** > Paeds > Flashcards

Paeds Flashcards

1
Q

Features of Down syndrome:

A
  • epicanthic folds - up slanting palpebral fissures - low set small ears - flat facial profile - short neck with excess skin - furrowed tongue - sandal toe deformity - Hypoplastic incurved 5th finger - single transverse palmar crease - brushfield spots
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2
Q

Features of Edward’s syndrome:

A
  • micrognathia - heart defects - prominent occiput - low set ears - clenched hands with overlapping fingers - renal defects - limited hip abduction - rocker bottom feet
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3
Q

Features of fragile x syndrome:

A
  • neurobehavioral problems - prominent forehead - large ears - long narrow face - prominent chin - macroorchidism Note: in addition to physical characteristics, complications include: seizures, scoliosis, mitral valve prolapse
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4
Q

What is the most common cause of inherited intellectual disability?

A

Fragile X syndrome

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5
Q

What is Turner syndrome?

A

It is one of the most common chromosomal abnormalities affecting 1 in 2000 live born infants. It is pan ethnic and has no known risk factors. It is due to absence of a set of genes normally present on the short arm of X chromosome. The most common cause is complete absence of one of the X chromosomes (Karyoptype 45x) with the paternal one being the missing one in 2/3 of the cases.

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6
Q

Most serious complication of Turner syndrome?

A

defects of the heart and coarctation of the aorta.. Note: that’s why HTN is more common in pts with Turner syndrome

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7
Q

What endocrine abnormality has been shown to occur in up to 30% of pts with Turner syndrome?

A

Hypothyroidism

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8
Q

Friedreich ataxia

A
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9
Q

differential diagnosis of Marfanoid body habitus

A
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10
Q

Marfanoid habitus

A
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11
Q

McCune-Albright syndrome

A
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12
Q

Neuroblastoma

A
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13
Q

Celerbral palsy

A
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14
Q

mgm of pts with cerebral palsy?

A

it must be individualised based on the childs clinical presentation and requires a multidisciplinary approach.

Botulinum toxin is effective in reducing spasticity for 3-6 months.

it should be given every 3-4 months to reduce formation of antibodies

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15
Q

T/F: Tubocurarine is used to treat cerebral palsy

A

False. it is used as muscle relaxant in anesthesia for surgical operations.

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16
Q

15 months old child has spastic cerebral palsy. what is the most suggestive of perinatal asphyxia as cause for this condition?

A

Cerebral palsy

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17
Q

Phenylketonuria

A
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18
Q

classic congenital adrenal hyperplasia

A
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19
Q

neurofibromatosis type 1

A
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20
Q

7 y/o girl with:

multiple hyperpigmented skin lesions over trunk & elbows, freckling in axilla & scoliosis of spine. sister has similiar presentation.

Dx?

A

Neurofibromatosis type 1

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21
Q

What is neurofibromatosis?

A

an autosomal dominant disorder producing tumors along the course of nerves and occasionally resulting in marked soft tissue or bony deformity.

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22
Q

what is Ataxia telangiectasia?

A

inherited autosomal recessive, multisystem disorder that presents with ocular & cutaneous telangiectasia, neurologic Sx & choreoathetosis.

Note: Ataxia is the earliest clinical Sx that may be apparent even when a child starts to walk

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23
Q

T/F: Sturge weber syndrome is heritable

A

False.

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24
Q

What is Von Hippel Lindau disease?

A

inherited autosomal dominant disorder characterised by a variety of benign & malignant tumours. Hemangioblastomas are the most typical lesions associated with it.

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25
Q

main clinical signs of Neurofibromatosis type 1?

A

1- multiple cafe au lait macules

2- axillary or inguinal freckles

3- neurofibromas

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26
Q

Prader willi syndrome

A
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27
Q

Kallmann syndrome

A
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28
Q

What is Kallmann syndrome?

A

isolated gonadotropin releasing hormone deficiency, also referred to as IHH with anosmia. It is a congenital genetic disorder where the primary Sx is a failure to start puberty or a failure to fully complete puberty. it occurs in both females & males

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29
Q

differential diagnosis of neuromuscular weakness

A
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30
Q

clinical features of absence features and inattentive staring spells

A
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31
Q

Mascular dystrophies

A
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32
Q

Note:

Age of onset difference. DMD is earlier (2-3 yrs of age) and is more severe (wheelchair bound by adolescence, death by 20-30 yrs due to Resp/heart failure)

By contrast, BMD has later onset (5-15 yrs of age) and less severe (milder Weakness, death by 40-50 due to heart failure).

A

..

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33
Q

pt with muscular dystrophy who has a maternal uncle with dystrophy who is ambulatory beyond age of 15. Dx?

A

Becker muscular dystrophy NOT duchenne muscular dystrophy

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34
Q

developmental milestones during toddlerhood

A
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35
Q

Primary amenorrhea evaluation

A
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36
Q

differentiating features of Hirschsprung disease and meconium ileus

A
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37
Q

Necrotizing enterocolitis

A
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38
Q

common causes of neonatal resp distress

A
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39
Q

evaluation of billious emesis in the neonate

A
40
Q

3 y/o baby has nonbilious vomiting after feeds. palpable mass at margin of right rectus abdominus muscle.

Tx?

A

Hypochloremic metabolic alkalosis; pylorotomy

41
Q

Tracheoesophageal fistula Tx

A

Surgical repair

42
Q

Intestinal malrotation Tx

A

surgical emergency

43
Q

Duodenal atresia Tx

A

Surgery

44
Q

Intraventricular hemorrhage

A
45
Q

acute bacterial rhinosinusitis

A
46
Q

Acute cervical adenitis in children

A
47
Q

Lyme disease clinical features

A
48
Q

Infectious mononucleosis

A
49
Q

Bacterial meningitis in children

A
50
Q

MOST COMMON CAUSE OF MENINGITIS IN

NEONATES?

A

GBS (STREP AGALACTIAE) IS MOST COMMON CAUSE OF MENINGITIS IN NEONATES (<1 MONTH). AFTER 3 MONTHS, S. PNEUMO IS MOST COMMON CAUSE.

51
Q

clinicial findings of congential infections

A
52
Q

neonatal herpes simplex virus infection

A
53
Q

infant botulism

A
54
Q

how do you confirm Dx of infant botulism?

A

Stool culture

55
Q

Most common Sx of infant botulism:

A
  • Hypotonia
  • poor ability to suck and pooled secretions
  • poor head control
56
Q

Perinatal hep B virus infection

A
57
Q

Congenital toxoplasmosis

A
58
Q

Tinea corporis (ringworm)

A
59
Q

what microorganism causes travellers’ diarrhea?

A

Giardia Lambilia

60
Q

initial Tx of Roseola ?

A

Supportive.

at emergency department, fluids should be given.

if pt has febrile seizures then you give Ibpurofen or Acetaminophen.

61
Q

Rubella

A
62
Q

T/F: Rubella infection can be confirmed by virus culture only

A

False.

virus culture or specifc serology

63
Q

Mumps

A
64
Q

Measles

A
65
Q

A serious complication of measles?

A

A serious complication of measles is Subacute Sclerosing Pancencephalitis (SSPE)

Which presents 6-15 years after initial infection and affects mainly people in regions Without regular immunizations. Clinical features include:

  • Regression in personality and intellect
  • Myoclonic jerks
  • Extreme neurologic dysfunction and death
66
Q

Neonatal conjunctivitis

A
67
Q

Conjunctivitis

A
68
Q

Gonococcal conjunctivitis

A
69
Q

Otitis externa

A
70
Q

acute otitis media

A
71
Q

Most common cause of AOM (acute otitis media)

A

S. PNEUMO

72
Q

croup

A
73
Q

in children with diabetes mellitus, loss of cals in urine due to glycosuria triggers what?

A

compensatory hyperphagia

74
Q

DKA classfied as:

A
75
Q

common complication in pts with craniopharyngioma before and after tumour resection

A

central diabetes insipidus. it is characterised by hypernatremia, dilute urine, normal extracellular fluid vollume, decreased arginine vasopressin

76
Q

how to confirm Dx of septic Arthirtis

A

culture of knee aspirate

77
Q

child meets criteria for septic arthirtis, what scan would you order for further evaluation?

A

ultrasonography

78
Q

transient synovitis vs. septic arthiritis

A
79
Q

Differnetial diagnosis of nontraumatic joint swelling

A
80
Q

Ewing Sarcoma

A
81
Q

legg-calve-perthes disease

A
82
Q

pediatric septic arthirtis

A
83
Q

Define:

Strabismus, Amblyopia, Esotropia, Exotropia

A

Strabismus: ocular misalignment. Light reflex is deviated from its normal Position.

Amblyopia: visual defect due to strabismus

Esotropia: Form of strabismus in which eye deviates medially. Light reflex. Can be seen lateral to normal position.

Exotropia: Form of strabismus in which eye deviates laterally. Light reflex. Can be seen medial to normal position.

84
Q

3.5 y/o girl swallowed an unknown number of aspirin. She is flushed, hypotensive, tachypneic

what would be the acid base disturbances?

A

PH low, HCO3 high, pCO2 low

85
Q

how to improve airway clearance in pts with cystic fibrosis

A

inhaled drugs that loosen and liquify the inspissated mucus and enhance mucociliary clearance (dornase alfa and/or hypertonic saline)

86
Q

most common isolate found in mucus secretions in Cystic fibrosis pts

A

P. Aeruginosa

Note: in pts with new Dx of PNA, strep pneumo and H.influenza are the most common isolates

87
Q

Bronchiolitis

A
88
Q

pt is Dx with asthma exacerbation. What would suggest impending resp failure?

A

PaCO2 of 46 mmHg

89
Q

tetralogy of fallot

A
90
Q

Cyanotic heart disease in newborns

A
91
Q

5 y/o has rash. 3/6 systolic murmur is hear on auscultation.

what would prompt you to order an echocardiogram or refer to cardiologist?

A

Concomitant diastolic murmur in cardiac area

92
Q

Tx of coarctation of aorta

A

Alprostadil

93
Q

BP discrepancy in the upper and lower limbs is highly suggestive of ?

A

Coarctation of aorta. CoA is usually associated with PDA and this is evidenced by Presence of continuous machine like murmur. Patient may be asymptomatic because The PDA allows bypassing of the coarctation. However, if the CoA is closed - i.e. with

Indomethacin which is an anti-prostaglandin - then the patient will have cyanosis.

Therefore, in CoA it is important to keep the PDA open and this is done with Prostaglandin E1

94
Q

tetralogy of fallot causes central cyanosis. what is its characteristics?

A

bluish lips and tongue on exercise or activity. Boot shaped heart is a radiological sign seen most commonly in pts with tetra of fallot

95
Q

Tx for contact dermatitis?

A

topical triamcinolone

96
Q

Tx for extensive contact dermatitis

A

Oral prednisone

MCCQE1 ** (5 decks)

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