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Peds Boards Review > Pediatrics Boards > Flashcards

Pediatrics Boards Flashcards

1
Q

What tests should be ordered for a child with intellectual delay of unknown etiology?

A
  1. Fragile X testing

2. Microarray

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2
Q

You are examining a patient’s skin lesions which are scaly and bleed where the scale is picked off. What is this sign called and what etiology does it indicate?

A

Auspitz sign

Psoriasis

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3
Q

What is the treatment of a hemangioma? What hemangiomas warrant treatment?

A

Oral propranolol for 6 months.

Risk of complications from certain hemangiomas: eyelid hemangioma that can obscure vision or tracheal hemangioma which can cut off the airway

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4
Q

What cardiac lesion is associated with tuberous sclerosis?

A

Cardiac rhabdomyoma

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5
Q

What is the cause of Phenylketonuria and what is the treatment?

A

Accumulation of phenylalanine due to decreased phenylalanine hydroxylase activity.

Treatment:
 Initiate low-protein diet with a phenylalanine-free medical formula as soon as possible after birth
 Avoid the artificial sweetener aspartame, as it contains phenylalanine

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6
Q

Marfan syndrome genetic defect

A

FBN1 mutation

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7
Q

Most common cause of death in Marfan syndrome?

What are other characteristics commonly seen in Marfans?

A

Aortic root dilation –> dissection

 Tall stature, joint hypermobility, skin hyper-elasticity, arachnodactyly (long fingers), pectus excavatum or carinatum, scoliosis/kyphosis, upward lens dislocation

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8
Q

Fragile X syndrome mutation

A

Trinucleotide repeat disorder – X linked defect causing hypermethylation and inactivation of the FMR1 gene

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9
Q

A patient with Down Syndrome (T21) presents to clinic with dizziness, fatigue, and behavioral changes. On exam you note increased tone and hyperreflexia only in the lower extremities. What do you suspect?

A

Atlantoaxial instability – seen in 10-15% of patients with T21

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10
Q

What is stickler syndrome?

A

Pierre Robin sequence + severe myopia or other ocular abnormalities

Also have sensorineural hearing loss

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11
Q

A patient with dysmorphic features has been pulling out his finger and toenails. What syndrome is this concerning for?

A

Smith Magenis

  • Intellectual disability
  • Physical: frontal prominence, hoarse/deep voice, coarse facial features
  • Unusual behaviors: self-hugging, pulling out fingernails and toenails, insertion of foreign objects into their body
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12
Q

Deceleration of head growth is concerning for what syndrome?

A

Rett Syndrome

Normal development in infancy  slowed development  regression at age 1-4

  • Loss of motor and language skills and the development of stereotypic hand movement (hand wringing/clapping).
  • Epilepsy, breathing disturbances, autistic features, sleep disturbances
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13
Q

Differentiate between Duchenne and Becker muscular dystrophy

A

Both are X linked recessive (most in boys)
Duchenne is more severe (deletion of dystrophin gene) – early onset at age 2-3, death by age 20-30 from respiratory or heart failure (develop cardiomyopahty)

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14
Q

Treatment of anaphylaxis

First line and second line

A

1st: Epinephrine in a 1:1000 dilution (0.01 mg/kg in children; maximum, 0.3 mg) intramuscularly
2nd: Benadryl, ranitidine, albuterol

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15
Q

Stages of puberty

A

F: Boobs, Pubes, Grow, Flow
o Thelarche, pubarche, peak height velocity, menarche

M: Testicular enlargement, pubarche, peak height velocity, spermarche

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16
Q

Electrolyte abnormalities in adrenal insufficiency

A

Hyponatremia
Hyperkalemia
Hypoglycemia

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17
Q

First line treatment of hyperthyroidism in pediatrics

A

Methimazole

Bc propylthiouracil has risk of hepatic toxicity

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18
Q

Diagnosis of cyclic vomiting syndrome and first line treatment in kids younger than 5

A

 2 or more episodes in a 6 month period
 Episodes are stereotypical to each patient: intense, unremitting nausea and paroxysmal vomiting that lasts for hours to days
 Episodes are separated by weeks to months with return to baseline health in between episodes

Treatment: cyproheptadine

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19
Q

Treatment of milk protein allergy

A

Suspect when a well-appearing neonate has painless bloody stools (age of onset ~2 months)

  • Elimination of milk and soy from maternal diet of breast fed infants
  • Initiation of hydrolyzed formula (amino acid based) in formula fed infants
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20
Q

Most common age of intussusception

A

Typically occurs between 6-36 months of age

Very rare to occur in <3 months

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21
Q

Four main features of nephrotic syndrome

A
  1. Proteinuria (Protein:Creatinine ratio of >2)
  2. Hypoalbuminemia
  3. Edema (periorbital, abdominal, scrotum/vulva, hands/feet)
  4. Hyperlipidemia
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22
Q

What is the most common cause of nephrotic syndrome in pediatrics?

A

Minimal change disease

  • No need for biopsy
  • Treat with steroids
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23
Q

Most common cause of epididymitis in prepubertal boys

A

most commonly due to a postviral infectious phenomenon (entero, adeno, mycoplasma)

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24
Q

A patient with a history of hereditary spherocytosis presents with RUQ pain. What do you need to be concerned about?

A

Pigment gallstones

made by hemolysis of the RBCs

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25
Q

Triad of hemolytic uremic syndrome

A
  1. Normocytic/hemolytic anemia
  2. Thrombocytopenia
  3. Acute renal insufficiency/Increased BUN (uremia)
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26
Q

What is the most common inherited coagulation disorder? What part of the coagulation cascade is affected?

A

Von Willbrand’s

Intrinsic pathway (prolonged PTT) due to effects on F8

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27
Q

Typical clinical features of measles

A

Cough, coryza, conjunctivitis, and koplick spots

Rash: Maculopapular exanthem (spreads from head downward) that spares palms and soles

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28
Q

What vitamin is important in reducing morbidity of measles infection?

A
  • Acute measles infection depletes vitamin A stores, resulting in a risk of keratitis and corneal ulceration

Vitamin A supplementation can prevent and treat ocular complications and also reduces the risk of other comorbidities (pneumonia, encephalitis, recovery time, and length of hospital stay)

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29
Q

What is the intracranial abnormality associated with measles?

A

Subacute sclerosing panencephalitis

Persistent infection of the brain by measles virus that destroys grey and white matter – seen many years after initial infection.

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30
Q

Failure to pass meconium within what window of time is concerning? What do you need to consider at that time?

A

Within 48 hours of life

Need to consider Hirschsprung’s disease on the differential

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31
Q

Patient with recurrent sinopulmonary infections and on exam has very small tonsils. What do you supect?

A

X linked agammaglobulinemia (Bruton disease)
- Complete defect in B cell production with no antibody production

Clinical presentation

  • Generally see symptoms start at around 6 months, when maternal antibodies begin to wane
  • Recurrent sinopulmonary and GI infections with encapsulated bacteria
  • Absence of lymphoid tissue on exam (tonsils, lymph nodes)
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32
Q

A child presents after an early morning seizure characterized by unilateral face twitching and arm shaking. The patient could not speak during the episode and was drooling. What do you suspect and what is the treatment?

A

Benign Rolandic Epilepsy (aka childhood epilepsy with centrotemporal spikes)

EEG shows perirolandic (centrotemporal) spikes: either unilateral or bilateral

AEDs are generally not needed (resolves in adolescence)

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33
Q

Antibiotics for retropharyngeal abscess

A

Cover aerobes and anaerobes

Unasyn or Clindamycin

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34
Q

An overgrowth disorder characterized by a predisposition to neoplasms.

A

Beckwith-Wiedemann Syndrome

macrosomia, macroglossia, hemihyperplasia (ex. Right upper and lower extremities are larger than left), and medial abdominal wall defects (umbilical hernia, omphalocele)

predisposed to Wilms tumor, hepatoblastoma

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35
Q

Causes of macrocytic anemia

A

Vitamin B12 deficiency
Folate deficiency
Fanconi anemia
Diamond Blackfan anemia

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36
Q

Pernicious anemia

A

Auto antibodies against parietal cells causes decreased intrinsic factor and impaired absorption of vitamin B12

Seen in autoimmune diseases or with gastrectomy

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37
Q

What is the most common cause of inherited aplastic anemia? What are some common findings with this?

A

Fanconi anemia:
defective DNA repair that results in inc chromosomal breakage, rearrangements, and deletions which causes bone marrow failure

Patients have short stature, inc incidence of tumors/leukemia, café au lait spots and thumb/radial defects

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38
Q

3 month old presenting with pallor and poor feeding. Has a cleft lip and web neck. CBC shows macrocytic anemia. What are you concerned for?

A

Diamond Blackfan Anemia: Congenital pure red cell aplasia

25% of patient have associated congenital abnormalities
	Short stature
	Web neck
	Cleft lip
	Shield chest
	Triphalangeal thumb
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39
Q

Vitamin B12 deficiency leads to what neurologic syndrome? Why?

A

Subacute Combined Degeneration:
Ataxia, weakness, paresthesia, impaired position and vibration sense.

Demyelination of (SCD)
S: Spinocerebellar tracts
C: lateral Corticospinal tracts
D: Dorsal columns

*B12 is involved in myelin synthesis

Whippets (inhalants) cause a similar picture by inactivating vitamin B12

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40
Q

Alagille Syndrome

A

Autosomal Dominant

Liver: bile duct abnormalities
Cardiac: pulmonary stenosis
Characteristc facies: hypertelorism

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41
Q

Diabetic Ketoacidosis criteria

A

hyperglycemia (>200 mg/dL)

acidosis (pH <7.3 or bicarb <15) with elevated anion gap

Ketonemia/ketonuria (urine ketones or elevated beta hydroxybutyrate)

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42
Q

How long are ear tubes supposed to last?

A

12-18 months. If they fail to self-extrude after 3 years, need to be surgically removed by ENT because it could lead to chronic TM perforation

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43
Q

Post strep glomerulonephritis: labs

A

Low C3, normal C4

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44
Q

What are risk factors associated with IVH?

A

Prematurity
Pneumothorax
Male sex
Bolus administration

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45
Q

Cause of Wilson disease and symptoms.

Lab tests

A

Copper accumulation in the liver, brain and eyes

Liver dysfunction
Neuropsychiatric symptoms
Kayser-Fleischer rings

Labs: low serum ceruloplasmin, inc urinary copper excretion

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46
Q

Features of DiGeorge Syndrome

A

CATCH 22

Cardiac (interrupted aortic arch, tetralogy of fallot, truncus arteriosus)
Abnormal facies (low set ears, micrognathia)
Thymic Aplasia
Cleft palate
Hypocalcemia (parathyroid hypoplasia)
Chromosome 22q1 deletion

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47
Q

Why do kids with digeorge syndrome have hypocalcemia

A

Parathyroid Hypoplasia

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48
Q

Children with galactosemia are at increased risk of what?

A

E coli sepsis

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49
Q

What causes neonatal polycythemia in an infant of a diabetic mother?

A

Polycythemia: due to increased fetal O2 requirement and increased metabolic demand
• Fetal hypoxemia –> inc erythropoiesis
• Can lead to hyperviscosity syndrome with resultant venous thrombosis
• At risk for hyperbilirubinemia

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50
Q

What causes respiratory distress syndrome in an infant of a diabetic mother

A

Hyperinsulinemia has an antagonistic effect on surfactant production

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51
Q

If you suspect muscular dystrophy, what lab test should you get?

A

CK (will be elevated)

*Gold standard is genetic testing

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52
Q

Simple vs Complex febrile seizures

A

Simple febrile seizure
 Generalized clinical features
 Less than 15 minutes
 Single seizure in 24 hour period

Complex febrile seizure
 Focal clinical manifestation
 Longer than 15 minutes
 More than one in a 24 hour period

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53
Q

Conjunctivitis in newborns

A 
Early onset (2-5 days) = gonorrhea
	Treat with IV or IM ceftriaxone
Late onset (5-14 days) = chlamydia
	Tx with oral erythromycin
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54
Q

Shwachman-Diamond syndrome

A

o Pancreatic exocrine insufficiency (with steatorrhea) with some degree of pancytopenia
o Usually present with short stature, skeletal abnormalities, diarrhea/steatorrhea, and recurrent infections, usually upper respiratory tract and skin

Differentiate from cystic fibrosis: Schwachman-Diamond syndrome has decreased cell lines (neutropenia, anemia, thrombocytopenia, normal electrolytes, normal sweat test

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55
Q

What is always seen in Guillain Barre Syndrome?

A

Arreflexia

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56
Q

What is seen in an LP for Guillain Bare

A

High protein with normal WBC count

albuminocytologic dissociation

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57
Q

What should you measure in GBS to monitor breathing?

A

Vital capacity
or
Negative inspiratory force (NIF)

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58
Q

Inheritance of G6PD

A

X-linked

glucose si”X” phosphate

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59
Q

An acute flare of G6PD leads to what?

A

Hemolysis! In response to a trigger that causes oxidative stress and hemolysis

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60
Q

Urine sodium in SIADH

A

High >40

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61
Q

What medication can be used to treat SIADH? When is it used?

A

If not responsive to fluid restriction, can treat with Demeclocycline (ADH antagonist)
• Only indicated for children older than 8: because it is a derivative of Doxycyline

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62
Q

What labs are typically negative in sJIA?

A

ANA and RF

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63
Q

Definition of polycythemia. When do you treat?

A

Central venous hct > 65%

Treat with partial exchange transfusion
 If >65% and symptomatic
 If >70% regardless of symptoms

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64
Q

CHARGE syndrome

A 
o	C: Coloboma
o	H: heart defects
o	A: atresia/stenosis (choanal)
o	R: retarded growth and development
o	G: Genitourinary abnormalities
o	E: Ear anomalies (hearing loss)
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65
Q

What genetic condition is a complete contraindication to breast feeding?

A

Galactosemia

Treatment is a galactose-free diet (soy formula)

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66
Q

What genetic condition places infants at risk for E coli sepsis?

A

Galactosemia

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67
Q

At what age is strabismus pathologic?

A

After 4 months of age

Warrants referral to ophthalmologist

Untreated strabismus may result in amblyopia (loss of visual acuity due to active cortical suppression of the vision of one eye)

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68
Q

What’s the problem in Hemophilia? What lab test is abnormal?

A

Factor 8 deficiency – prolonged aPTT

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69
Q

If a baby presents with E coli sepsis, what metabolic disease should you think of?

A

Classic galactosemia

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70
Q

What should you consider in every female with short stature?

A

Turner Syndrome

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71
Q

When should hearing loss be identified in infants?

A

o 1/3/6 Rule!!
 Universal screening by 1 month
 Confirm hearing loss by 3 months
 Receive early intervention by 6 months

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72
Q

Undescended testis management

A

Most descend in the 1st 3 months of life

If the testis does not descend by 6 months of life, it is unlikely to descend spontaneously

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73
Q

If middle ear wounds are contaminated in the setting of trauma, then what is indicated?

A

Tetanus ppx

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74
Q

Which neck mass consistently transilluminates? What is this lesion associated with?

A

Cystic hygroma (Lymphangioma)

  • Noonan
  • Turner
  • Down
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75
Q

• Jervelle-Lange Nielsen Syndrome

A

Long QT and congenital hearing loss

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76
Q

What GI bug is associated with eating pork intestines? (Chitlins)

A

Yersenia enterolytica

- Can lead to bacteremia

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77
Q

What electrolyte abnormality with dehydration are children with CF predisposed to?

A

Hyponatremic
Hypochloremic
Hypokalemia

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78
Q

In evaluating for PCOS, what is the most important lab to order?

A

Free and total testosterone

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79
Q

Treatment of hyperthyroidism

A

Methimazole

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80
Q

Inheritance of Adrenal Insensitivity Syndrome

A

X linked

Genetically XY however there is androgen receptor resistance

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81
Q

Congenital Adrenal Hyperplasia

A

21-hydroxylase deficiency, leading to increased levels of 17-hydroxyprogesterone and testosterone (Virilization)

Decreased production of aldosterone and cortisol

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82
Q

Adrenal Insufficiency Labs

A

Low Na
High K
Low glucose

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83
Q

Classic feature in Cushing’s syndrome

A

Growth arrest!

And delayed bone age

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84
Q

Infant with big tongue, umbilical hernia, and low blood sugar

A

Beckwith Wiedeman

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85
Q

Parathyroid hormone effects

A

Raises calcium

Decreases phosphorus

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86
Q

What genetic condition is associated with hypercalcemia?

A

Williams syndrome

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87
Q

What electrolyte can lead to hypocalcemia?

A

o Hypomagnesemia can cause hypocalcemia by inducing resistance to PTH and by decreased PTH secretion

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88
Q

What genetic condition is associated with hypocalcemia?

A

Di George syndrome (lack of parathyroids)

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89
Q

High calcium

Low phos

A

Hyperparathyroidism

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90
Q

Low Ca

High phos

A

Hypoparathyroidism

91
Q

Low Ca

Low Phos

A

Vitamin D deficiency

92
Q

What lab is elevated in ALL forms of rickets/vitamin D deficiency?

A

Alkaline phosphatase levels

93
Q

What type of rickets is the only one where a 25-hydroxy vitamin D level is low?

A

Vitamin D deficiency

94
Q

Growth velocity rule of 24

A

year x GV = 24

ex. 1st year is 24 cm/year
2nd year is 12 cm/y
3rd year is 8 cm/y

95
Q

Child who is underweight and underheight, with a normal bone age

A 
Nutritional deficiency
(think about Crohn's disease)
96
Q

When is puberty considered delayed?

A

Boys: age 14
Girls: age 13

97
Q

when is puberty considered precocious?

A

Boys: before age 9
Girls: before age 8

98
Q

Precocious puberty should make you think of what syndrome?

A

McCune Albright Syndrome

 Unilateral café au lait spots with jagged borders
 Precocious puberty
 Polyostotic fibrous dysplasia, (multiple osteolytic appearing lesions of the hip and pelvis)

99
Q

Why do we care about precocious puberty?

A

Because the only significant consequence is short adult height

(and consider psychosocial implications)

100
Q

Midfacial anomalies indicate a high risk of what endocrine abnormality

A

GH deficiency

101
Q

Micropenis indicates what endocrine abnormality?

A

GH deficiency

102
Q

Triad of GH deficiency

A

Micropenis
Hypoglycemia
Short stature

103
Q

What is the most common cause of congenital hypothyroidism?

A

Sporadic due to thyroid dysgenesis

104
Q

16 year old with

  • T1DM
  • Autoimmune thyroiditis
  • Adrenal cortical insufficiency
A

Autoimmune polyglandular syndrome

105
Q

Immobilization leads to what electrolyte abnormality?

A

Hypercalcemia! Because it results in stimulation of bone resorption

106
Q

CAH: differentiate between 21-hydoxylase deficiency and 11B hydoxylase deficiency

A

21-hydoxylase deficiency: salt wasting + virilization (most common presentation)
11B hydoxylase: virilization, no salt wasting, HTN

107
Q

What syndrome should be on your differential for neonatal hypotonia?

A

Prader Willi

108
Q

What lab to order to evaluate for primary amenorrhea/

A

FSH

If low: indicates a central cause (pituitary?)
If high: indicates a peripheral cause (karyotype – Turners?)

109
Q

Key feature of bulimia

A

Binging!

110
Q

What causes dysmenorrhea?

A

Prostaglandin production: vasoconstriction and muscle contraction (which is why we treat with NSAIDs – prostaglandin inhibitors)

111
Q

Treatment of gonorrhea infection

A

Ceftriaxone PLUS azithromycin or Doxy (to also cover chlamydia)

112
Q

Treatment of syphillis
Standard-
If allergic to standard therapy -

A

Penicillin
If allergic – treat with doxycycline

(If pregnant and allergic, then cannot do doxy. They must undergo desensitization and treatment with PCN)

113
Q

What should you consider in an adolescent with RUQ abdominal pain and vaginal discharge?

A

Fitz Hugh Curtis syndrome (perihepatitis due to N gonorrhoeae or Chlamydia)

114
Q

Pelvic Inflammatory Disease

  • Standard tx
  • If allergic
A

Standard: CTX x1 and Doxy (14 d)
Allergic: Clinda and gent

115
Q

Rheumatic fever is a sequela of what

A

Recent group A strep pharyngitis infection

NOT A SEQUELAE OF IMPETIGO

116
Q

Treatment of acute rheumatic fever

A

Penicillin: to treat the strep
ASA: as an anti-inflammatory med

117
Q

Why do we treat strep throat?

A

To prevent rheumatic fever (will not prevent PSGN)

118
Q

Glomerulonephritis WITH a pharyngitis vs Glomerulonephritis AFTER a pharyngitis

A

Glomerulonephritis WITH a pharyngitis: IgA nephropathy

Glomerulonephritis AFTER a pharyngitis: PSGN

119
Q

A patient with cafe au lait spots and HTN – what are you worried about?

A

Neurofibromatosis type 1 with a pheochromocytoma

120
Q

Corneal clouding and coarse facies

A

Hurler syndrome

121
Q

Overlapping fingers

A

Edward Syndrome (Trisomy 18)

122
Q

Cutis aplasia

A

Trisomy 13

123
Q

Cardiac finding in Williams

A

Supravalvular aortic stenosis

124
Q

Cardiac finding in Noonans

A

Pulmonic stenosis

125
Q

Cardiac finding in Turner syndrome

A

Left sided: coarctation of the aorta, bicuspid aortic valve

126
Q

WAGR

A

Wilms tumor
Aniridia
Genitourinary malformation (hypospadias, cryptorchidism)
Reduced intellectual abilities

127
Q

DiGeorge Syndrome

A

CATCH 22
o Cardiac defects (interrupted aortic arch, tetralogy of fallot, VSD, truncus arteriosus)
o Abnormal facies (low set ears, micrognathia)
o Thymic aplasia (cellular immune deficiency)
o Cleft palate
o Hypocalcemia (secondary to parathyroid hypoplasia)
o Chromosome 22q11 microdeletion

128
Q

Infant with hyperammonemia without acidosis or ketosis

A

Urea cycle defect (ie OTC deficiency)

129
Q

Infant with hyperammonemia with acidosis (+/- cytopenias due to bone marrow suppression from metabolic acidosis)

A

Organic acidemia

(typically presents as a septic appearing infant with sepsis ruled out) – order an ammonia level!

130
Q

Hypoglycemia, hyperlipidemia, and lactic acidosis with hepatosplenomegaly

A

Glycogen storage disease Type 1

131
Q

Infant with hypoketotic hypoglycemia during an acute viral gastroenteritis. Otherwise has been fine.

A

Fatty acid oxidation defect

132
Q

Cataracts is seen in which inborn error of metabolism?

A

Galactosemia (reversible with diet change)

133
Q

Infant with easy startle and cherry red spot on the retina

A

Tay Sachs

134
Q

Cherry red macular with hepatosplenomegaly

A

Niemann Pick Disease

135
Q

Difference between Hunter and Hurler syndrome

A

Hurler: Corneal clouding
Hunter: X linked
Hunter and Hurler are associated with Hepatosplenomegaly and Hearing deficits

136
Q

Mild form of osteogenesis and severe form

A

Mild: Type 1
Severe: Type 2

137
Q

Cataract and tinnitus?

A

NF2

Schwannoma and cataracts

138
Q

Hemangioblastomas

A

von Hippel Lindau

139
Q

Infant presents with hypoplastic thumb and radius and pancytopenia with macrocytic anemia

A

Fanconi Anemia

140
Q

Green amniotic fluid – think….

A

Listeria infection

141
Q

Infant with chorioretinitis, intracranial calcifications, and hydrocephalus

A

Congenital toxo

142
Q

Measles post exposure management

A

Use of MMR vaccine following exposure within 3 days (3 letters in MMR)

Immune globulin
• For select populations: pregnant women, infants younger than 6 months, and immunocompromised patients
• Administer within 6 days of exposure

143
Q

3 most common causes of bacterial meningitis in neonates

A

GBS, E coli, listeria

144
Q

Child with bloody diarrhea and convulsions

A

Shigella

145
Q

Triad of HUS

A

• Hemolytic anemia
• Uremia (elevated BUN)/Acute Renal Insufficiency
• Thrombocytopenia
After a diarrheal illness

146
Q

all babies receive erythromycin drops for prevention of what infection

A

Gonorrhea (not chlamydia)

147
Q

What time frame determines which newborns should be given varicella immunoglobulin?

A

High fatality rate if infection occurs between 5 days before an 2 days following delivery
• Varicella: V = 5 days before
• 2 L’s = 2 days after

148
Q

Age of presentation in TEC vs Diamond Blackfan

A 
TEC = Toddlers
DBA = Babies
149
Q

Type of anemia in TEC

A

Normocytic, low reticulocyte

Seen in toddlers who are otherwise healthy and may have an antecedent infection

150
Q

What is one of the first symptoms in a child with sickle cell disease?

A

Dactylitis

151
Q

Management of hyphema

A

Eye shield

152
Q

Inheritance of chronic granulomatous disease

A

X linked

153
Q

delayed separation of umbilical cord should make you think of what? How would you diagnose it?

A

Leukocyte Adhesion Deficiency

Dx via flow cytometry

154
Q

Immunodeficiency with partial albinism

A

Chediak-Higashi Syndrome

155
Q

Child with no response to vaccines and absent lymphoid tissue….

A

X linked agammaglobulinemia (Bruton’s disease)

156
Q

Child with severely decreased immunoglobulins of all classes

A

X linked agammaglobulinemia (Bruton’s disease) (no B cells –> no Igs)

157
Q

How can you differentiate between X linked agammaglobulinemia and Common Variable Immunodeficiency

A

Both have decreased immunodeficiencies

X linked agamma has NO B CELLS
CVID has NORMAL B CELL COUNT

158
Q

Triad of eczema, thrombocytopenia, and cellular immunodeficiency

A

Wiskott Aldrich Syndrome

WAS
• WBC problems
• Atopy (eczema)
• Small and few platelets

159
Q

Male infant with eczema, recurrent sinopulmonary infections, and unusual bleeding

A

Wiskott Aldrich Syndrome

WAS
• WBC problems
• Atopy (eczema)
• Small and few platelets

160
Q

Immunodeficiency with giant granules in neutrophils

A

Chediak Higashi

161
Q

Which vaccines should be avoided in patients with SCID?

A

Live vaccines

162
Q

Elevated alpha fetoprotein is characteristic of what immunodeficiency?

A

Ataxia Telangiectasia

IgA deficiency

163
Q

Kids with oligoarticular JIA are at risk for development of what?

A

Uveitis

164
Q

Wegener Granulomatosis aka Granulomatosis with polyangiitis affected which two systems?

A

“Pulmonary-Renal syndrome”

c-ANCA

165
Q

c-ANCA

A

Wegener Granulomatosis aka Granulomatosis with polyangiitis

166
Q

Heinz bodies

A

G6PD deficiency

167
Q

Pigmented penile lesions and hamatomatous intestinal polyps

A

Bannayan-Riley-Ruvalcaba Syndrome

168
Q

Most common form of tracheo-esophageal fistula

A

Esophageal atresia with distal tracheoesophageal fistula is most common

169
Q

Granulomas on biopsy: UC vs Crohns

A

Crohns

170
Q

How does distribution change between UC and Crohns

A

UC: “Unanimously colon” – continuous lesions, always involves rectum

Crohns: skip lesions, from mouth to anus (can have aphthous ulcers)

171
Q

Infant with rectal prolapse should make you think of what?

A

Cystic fibrosis

Shigella (if hx of infectious diarrhea)

172
Q

Large facial hemangioma warrants work up of what syndrome?

A

PHACES

P: Posterior fossa abnormalities (Dady-Walker)
H: Hemangioma (generally large cervicofacial lesions)
A: Arterial anomalies (typically intracerebral)
C: Cardiac defects (coarct of the aorta)
E: Eye abnormalities (micopthalmia)
S: Sternal defects

173
Q

Treatment of ichthyosis

A

Keratolytic agents like ammonium lactate creams, AHA, and urea containing emollients

174
Q

Patterned blistering that follows the lines of Blaschko (the routes of embryonic cell migration)

Delayed eruption of teeth with peg or cone shaped teeth (often missing teeth)

A

Incontinentia pigmenti
o X linked dominant
o Lethal in males

175
Q

Post strep glomerulonephritis is a sequela of what?

A

Strep pharyngitis and impetigo

176
Q

Rheumatic fever is a sequela of what?

A

Strep pharyngitis

177
Q

Treatment of methanol poisoning

A

IV Fomepizole

178
Q

At what age do you start checking BP?

A

3 year old

179
Q

What are major factors in the development and persistence of asthma?

A

Obesity and vitamin D deficiency

180
Q

Rabies post exposure ppx

A

Rabies immune globulin and rabies vaccine immediately

181
Q

Ethylene Glycol vs Methanol

A

Both ingestions cause high anion gap metabolic acidosis

EG: renal failure with calcium oxalate crystals

Methanol: visual disturbances

182
Q

What mass can cause Horner syndrome? What labs would you get?

A

Neuroblastoma

Homovanillic acid and vanillymandelic acid

183
Q

Treatment of CMV

A

Asymptomatic: no treatment
Symptomatic: 6 months of oral valganciclovir

184
Q

Orbital cellulitis often arises from where?

A

Ethmoid sinus

185
Q

Features of constitutional growth delay?

A

Decreased growth rate in early teen years
Delayed onset of puberty
Bone age below chronological age

186
Q

Delay in puberty

A

Puberty is considered delayed in boys when there is a lack of testicular growth = 4 mL in volume (or 2.5 cm in length) by age 14 years. In girls, puberty is delayed when there is a lack of breast development by age 13 years.

187
Q

Bone pain that improves with NSAIDs

A

Osteoid osteoma

188
Q

Types of bone cysts

A 
o	Unicameral (simple bone cysts)
	Fluid filled
	Noncancerous, typically solitart
	Often resolve spontaneously
	Restrict activity to prevent fracture

o Aneurysmal
 Blood filled
 Can be more aggressive in growth
 Require surgical excision

189
Q

Scoliosis management and degrees

A

<20: no restrictions
25-40: bracing to prevent or minimize curve progression
>45: surgery

190
Q

Infant with acute respiratory distress in the setting of meconium stained amniotic fluid and on exam with a displaced point of maximal cardiac impulse

A

Pneumothorax!

Due to meconium aspiration

191
Q

SGA and LGA

A

SGA <10%tile

LGA >90%tile

192
Q

Single umbilical artery should make you think of what?

A

Trisomy 18

193
Q

Newborn with cyanosis that is aggravated by feeding and relieved by crying

A

choanal atresia

pass tube into nasal passages and confirm with CT scan

194
Q

Treatment of corneal abrasions

A

topical antibiotics

195
Q

What should a baby with T21 have done before leaving the WBN?

A

Echo!

196
Q

Calculating anion gap

A

Na - (Cl+HCO3)

197
Q

What additional vaccine should all children with nephrotic disease receive?

A

PPSV23 (pneumococcal vaccine)

198
Q

What other organ system is involved in ARPKD?

A

Liver

Universally have hepatic fibrosis

199
Q

IgA nephropathy vs PSGN

A

IgA: sore throat at the same time as hematuria
PSGN: 1-2 weeks AFTER pharyngitis

200
Q

Low FeNa (<1)

A

Prerenal renal failure

201
Q

High FeNa (>1)

A

Instrinsic renal failure

202
Q

Friedrich ataxia

A 
AR
Ataxia
Loss of DTRs
Diabetes Mellitus
Hypertrophic cardiomyopathy
203
Q

Reversal of dystonic reaction

A

Benadryl (diphenhydramine)

204
Q

Infant with tongue fasiculations

A

SMA

205
Q

Rapid onset of Muscle flaccidity and hyporeflexia followed by spasticity and hyperreflexia

A

Transverse myelitis (usually following a URI)

206
Q

Mother delivering with active herpes infection

A

Vaginal or C/S delivery

Mother with herpes lesions (vaginal or C/S delivery): perform a diagnostic eval and start empiric IV acyclovir at 24 hours of age (or sooner if baby becomes symptomatic!)

207
Q

Ketones and glucose in fatty acid oxidation disorder

A

Hypoketotic hypoglycemia

208
Q

Macrosomia, macroglossia, and omphalocele

A

Beckwith Wiedemann

209
Q

When renal tubular defect causes HTN? What other features will you see?

A 
Liddle Syndrome (ENaC gain of function)
HTN
Hypernatremia
Hypokalemua
Metabolic alkalosis
210
Q

Labs in renal tubular acidosis

A

Normal anion gap metabolic acidosis

High chloride level

211
Q

Which heart sound is normal and which is pathologic in peds?
S3
S4

A 
S3 = normal
S4 = always pathologic
212
Q

Pneumatoceles on CXR

A

Staph aureus

213
Q

Bacterial sinusitis

A

it is distinguished from a simple viral URI by at least 10 days of symptoms without improvement, a new or worsening fever (> 39°C), or worsening cough after initial improvement.

214
Q

When can children switch to forward facing car seats?

A

Age 2, 20 lbs

215
Q

MCHAT screening is done when

A

18-24 months

216
Q

Calculating caloric requirements

A

100 kcal/kg for 1st 10 kg
50 kcal/kg for 2nd 10 kg
20 kcal/kg for any more kgs

217
Q

Infant caloric requirements

A

100-120 kcal/kg/day

218
Q

Eye issues in the following:

  • NF type 1
  • NF type 2
  • Sturge Weber
  • Galactosemia
  • Congenital rubella
  • Hurler
  • Tay Sachs
  • Nieman Pick
A 
NF1- lisch nodules/optic gliomas
NF 2- cataracts
Sturge weber - glaucoma
Glactosemia - cataracts
Congenital rubella - cataractss
Hurler - corneal clouding
Tay Sachs - Cherry red macula
Nieman Pick- Cherry red macular
219
Q

Management of:
hyphema
corneal abrasion

A

hyphema: eye shield

corneal abrasion: topical antibx

220
Q

Which disease: pain crises/peripheral neuropathy, doesn’t sweat

A

Fabry
X linked
Can eventually progress to cardiomyopathy and renal failure

221
Q

Features of Asthma Predictive Index

A

Major: 1 parent with asthma, child has eczema
Minor: allergic rhinitis, wheezing unrelated to colds/URIs, eosinophilia

Positive API is 1+ major criterion or 2+ minor

222
Q

Immunodeficiency with susecptibility to PCP pneumonia

A

Hyper IgM

223
Q

Immunodeficiency with eczema, diarrhea, and absence of thymic shadow on CXR

A

SCID

224
Q

When should you introduce a cup and when should the child be fully weaned from the bottle?

A

Introduce at 6-9 months

Wean by 12-15 months

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