Week 3

Question 1

Congenital rubella syndrome

Answer 1

cataracts, cardiac defects (often patent ductus arteriosus), hepatosplenomegaly, jaundice, radiolucent long bone lesions and petechiae, and purpura.

Question 2

Congenital cytomegalovirus infection

Answer 2

diagnosed by urine PCR, is characterized by petechiae, jaundice at birth, hepatosplenomegaly, small size for gestational age, microcephaly, sensorineural hearing loss, chorioretinitis, and intracranial calcifications in a periventricular pattern.

Question 3

Salter Harris fractures

Answer 3

Type 1 fracture is characterized by widening of the growth plate

Type 2 fracture passes through the physis and exits through the metaphysis, displacing a metaphyseal bone fragment.

A Type 3 fracture passes through the physis and extends into the adjacent joint, displacing an epiphyseal bone fragment.

A Type 4 fracture begins at the articular surface and extends through the physis, displacing both an epiphyseal and metaphyseal bone fragment. Bony fragments associated with Types 2, 3, and 4 are readily apparent on a plain radiograph.

A Type 5 fracture is characterized by a crush injury.

Question 4

rules with prednisone and vaccines

Answer 4

≥ 2 mg/kg/day of body weight of prednisone (or ≥ 20 mg/day of prednisone in children who weigh ≥ 10 kg) for ≥ 14 days should not receive certain live-virus vaccines (MMR, MMRV, varicella, rotavirus, LAIV) until at least 4 weeks after discontinuation because daily corticosteroids at these doses can lead to high-level immunosuppression

Question 5

X- ray findings of osteochondroma

Answer 5

stalk-like or broad-based cortical outgrowth of bone, usually directed away from the joint,

More common in males, they usually present between 5 and 15 years of age as a bony, nonpainful mass in the distal femur, proximal tibia, or proximal humerus

Question 6

Ewing sarcoma
What age group and race is it most common in?
What are the radiographic findings?

Answer 6

Caucasian
ES is more common in children < 10 years of age.
“onion skin” appearance of the primary lesion
Will present with pain and swelling with B-symptoms

Question 7

Hormone findings in PCOS

Answer 7

Increased free testosterone
PCOS can be associated with a relative increase in LH and decrease in FSH secretion, with an elevated LH:FSH ratio of > 2.5:1.

Question 8

Duchenne muscular dystrophy
genetics?
Life expectancy?
Cause of sudden death?

Answer 8

X-linked recessive and in 2/3 of cases is inherited from the mother. In such a scenario, where the mother is a carrier, each of the patient’s sisters would have a 50% risk of being a carrier of Duchenne muscular dystrophy. Most female carriers are asymptomatic; however, some may develop cardiomyopathy starting as early as their late teen years.
Don’t live past 20s
Sudden cardiac death- cardiomyopathy

Question 9

When to check micro albumin in urine for DM1 and 2

Answer 9

urine microalbumin at the initial diagnosis of DM Type 2—and 5 years after the initial diagnosis of DM Type 1. Yearly screenings should then be performed

Type 1 diabetes, 5 years after diagnosis include:
Nephropathy: Annual spot urine albumin-to-creatinine ratio at puberty or age > 10 years (whichever is earlier)
Retinopathy: Every 2 years, dilated comprehensive eye exam at puberty or age 11 years (whichever is earlier)
Neuropathy: Annual comprehensive foot exam at puberty or age 10 years (whichever is earlier)

Question 10

What is pellagra?

Answer 10

Niacin deficiency
Rash on sun exposed areas- looks like a sunburn
The kid will seem depressed with diarrhea
Typically in corn heavy diets

Question 11

Vitamin A deficiency

Answer 11

Night blindness
Epithelial cell changes of eyes, respiratory tract and GI tract

Question 12

Vitamin C deficiency (scurvy)

Answer 12

irritability, poor wound healing, gingival bleeding, petechiae and ecchymoses, and tenderness and swelling of the lower extremities.

Question 13

skin findings in Zinc deficiency

Answer 13

bullous pustular dermatitis with alopecia

Question 14

GPA
granulomatosis with polyangiitis (GPA)—a necrotizing granulomatous vasculitis

Answer 14

Criteria for diagnosis include nasal or oral inflammation (painless or painful oral ulcers or purulent/bloody nasal discharge); abnormal chest radiograph/CT; hematuria and/or red cell casts; and vascular granulomatous inflammation on biopsy. A patient must meet 2 or more criteria for a diagnosis of GPA. Antibodies to antineutrophil cytoplasmic autoantibody (ANCA) directed toward the proteinase 3 component of the neutrophil cytoplasm are specific for the disorder.

Question 15

presentation of pneumonia due to C. trachomatis

Answer 15

eosinophilia
Rales without wheezing
tachypnea—a staccato-like cough, nasal stuffiness
4-12 weeks of age

Question 16

ECG findings with Wolff-Parkinson-White syndrome (WPW)

Answer 16

PR interval is shortened, QRS complex is widened
accessory connection between the atria and the ventricles

Question 17

chalazion vs Hordeolum

Answer 17

Chalazion- located in either the upper or lower eyelid. It is characterized by a firm, nontender or only slightly tender nodular mass

hordeolum presents as a swollen, painful indurated mass with purulent contents. It is most often caused by Staphylococcus aureus

Question 18

Hep A vaccine schedule

Answer 18

HepA vaccine is given at 12–23 months of age, followed by a 2nd dose 6–12 months (or 6–18 months, depending on the manufacturer) after the 1st dose
We do it 12 and 18 month

Before 12 months they should get it if traveling, but doesn’t count toward two dose series

Question 19

Trisomy 13

Answer 19

Patau syndrome
cardiac anomalies including VSD, cleft lip and palate, clenched hands with polydactyly polycystic kidneys, holoprosencephaly, and a characteristic absence of skin on a part of their scalp called cutis aplasia.

Question 20

Tetrology of fallot

Answer 20

large ventricular septal defect (VSD),
right ventricular outflow tract (RVOT) obstruction
pulmonary stenosis
overriding aorta
right ventricular hypertrophy (RVH)

Question 21

Kallman syndrome

Answer 21

increased arm span (arm span − height = > 2.5 in)
testes that are larger than seen in Klinefelter syndrome, although they are still small
normal genotype (46,XY)
no Barr bodies
low LH and FSH; usually no gynecomastia; adequate social skills; and an impaired sense of smell.

Question 22

Klinefelter syndrom

Answer 22

47,XXY,
Barr bodies
They often have gynecomastia and poor social skills. They are not able to produce normal amounts of testosterone.

Question 23

most common known genetic mutation that leads to hereditary pancreatitis

Answer 23

PRSS1 gene defect

Question 24

Alport syndrome

Answer 24

hematuria and sensorineural hearing loss

Question 25

Selective immunoglobulin A (IgA) deficiency

Answer 25

recurrent sinopulmonary infections and GI infections. Associated manifestations often include malabsorption, autoimmune diseases, atopy, and an increased risk of malignancy. Serum antibodies to IgA may result in anaphylaxis following administration of blood products. Intestinal giardiasis is common