Pediatric Rheumatology

Question 1

Atlantoaxial instability is more common in Down syndrome patients and typically manifests with […] motor neuron symptoms.

Answer 1

Atlantoaxial instability is more common in Down syndrome patients and typically manifests with upper motor neuron symptoms.

e.g. spasticity, hyperreflexia, positive Babinski sign

Question 2

Bowing of the legs is considered a normal variation in children up to […] years old.

Answer 2

Bowing of the legs is considered a normal variation in children up to 2 years old.

i.e. physiologic bowing of the legs; after 2 years old, bowing is pathologic (e.g. tibia vara, also known as Blount’s disease)

Question 3

Langerhans cell histiocytosis in a child may manifest as a painful, lytic long bone lesion with overlying swelling and […]-calcemia.

Answer 3

Langerhans cell histiocytosis in a child may manifest as a painful, lytic long bone lesion with overlying swelling and hyper-calcemia.

classically associated with Birbeck granules on electron microscopy

Question 4

Lyme arthritis presents as an inflammatory monoarticular or asymmetric oligoarticular arthritis, most commonly in the […].

Answer 4

Lyme arthritis presents as an inflammatory monoarticular or asymmetric oligoarticular arthritis, most commonly in the knee.

synovial fluid analysis typically reveals ~25,000 WBCs/mm3 with negative gram stain/culture; arthritis is the most common complication of late lyme disease

Question 5

Osteoblastoma presents with bone pain, especially at night, that […] resolve with aspirin/NSAIDs.

Answer 5

Osteoblastoma presents with bone pain, especially at night, that DOES NOT resolve with aspirin/NSAIDs.

important distinguishing feature from osteoid osteoma

Question 6

Osteogenesis imperfecta is caused by mutation in the genes coding for […].

Answer 6

Osteogenesis imperfecta is caused by mutation in the genes coding for type I collagen.

Question 7

Osteogenesis imperfecta is characterized by multiple […] with minimal trauma.

Answer 7

Osteogenesis imperfecta is characterized by multiple fractures with minimal trauma.

may occur during the birth process; can mimic child abuse, but bruising is absent

Question 8

Osteoid osteoma presents with bone pain, especially at night, that […] resolve with aspirin/NSAIDs.

Answer 8

Osteoid osteoma presents with bone pain, especially at night, that DOES resolve with aspirin/NSAIDs.

important distinguishing feature from osteoblastoma

Question 9

Patients with Kawasaki disease may develop coronary artery […], which can rupture.

Answer 9

Patients with Kawasaki disease may develop coronary artery aneurysms, which can rupture.

echocardiography should be performed at the time of diagnosis and again 6 - 8 weeks later; dilated arteries are prone to thrombotic occlusion, which may cause myocardial ischemia and/or infarction

Question 10

Radial head subluxation (nursemaid’s elbow) occurs when the radial head slips through part of the […].

Answer 10

Radial head subluxation (nursemaid’s elbow) occurs when the radial head slips through part of the annular ligament.

Question 11

Serum sickness typically presents with fever, urticaria, arthralgia, and lymphadenopathy […] after antigen exposure. (timing)

Answer 11

Serum sickness typically presents with fever, urticaria, arthralgia, and lymphadenopathy 1 - 2 weeks after antigen exposure. (timing)

most commonly caused by beta-lactams and sulfa drugs; symptoms typically resolve with withdrawal of the offending agent

Question 12

Slipped capital femoral epiphysis (SCFE) is characterized by […] rotation of the thigh upon hip flexion.

Answer 12

Slipped capital femoral epiphysis (SCFE) is characterized by external rotation of the thigh upon hip flexion.

also associated with limited abduction and internal rotation of the hip

Question 13

Treatment for Kawasaki disease includes […] and […].

Answer 13

Treatment for Kawasaki disease includes aspirin and IVIG.

aspirin is given for its antithrombotic properties; this is an exception to the rule that children should never be given aspirin

Question 14

What bone tumor is characterized by a bony mass with a radiolucent core on imaging?

Answer 14

Osteoid osteoma

Question 15

What drug classes are most commonly associated with serum sickness?

Answer 15

beta-lactams and sulfa drugs

e.g. penicillin, amoxicillin, TMP-SMX

Question 16

What eye pathology is associated with juvenile idiopathic arthritis (JIA)?

Answer 16

Uveitis

should be assessed for with slit-lamp examination

Question 17

What is the likely diagnosis in a child that presents with bilateral lower extremity pain, especially at night, with a normal physical exam?

Answer 17

Growing pains

growing pains is characterized by no systemic symptoms with normal activity levels and physical exam

Question 18

What is the likely diagnosis in a child that presents with hip pain several days after a viral URI with normal physical exam, laboratory studies, and X-ray?

Answer 18

Transient synovitis

most common cause of hip pain in children; X-ray is needed to assess for Legg-Calve-Perthes disease

Question 19

What is the likely diagnosis in a child that presents with several months of back pain and recent urinary incontinence with a palpable “step-off” at the lumbosacral area on physical exam?

Answer 19

Spondylolisthesis

typically caused by forward slip of the L5 vertebrae over S1 in preadolescent children

Question 20

What is the likely diagnosis in a child that presents with three months of symmetric arthritis of wrists, knees, and ankles that is worse in the morning?

Answer 20

polyarticular juvenile idiopathic arthritis

laboratory findings include leukocytosis, thrombocytosis, anemia, and elevated ESR

Question 21

What is the likely diagnosis in a child that presents with two months of daily fever, pink macular rash, and knee/hip pain that is worse in the morning?

Answer 21

systemic-onset juvenile idiopathic arthritis (sJIA)

laboratory findings include leukocytosis, thrombocytosis, anemia, and elevated ESR; macular rash is characteristic of systemic JIA

Question 22

What is the likely diagnosis in a child with a supracondylar humerus fracture that complains of increasing pain despite multiple analgesics?

Answer 22

Compartment syndrome

supracondylar humerus fracture classically occurs in a child after a fall on an outstretched hand; radiographs often reveal fat pads (lucency) anterior and posterior to the fracture

Question 23

What is the likely diagnosis in a child with Down syndrome that presents with behavioral change, urinary incontinence, and upper motor neuron symptoms?

Answer 23

Atlantoaxial instability

due to compression of the spinal cord; treatment consists of surgical fusion of the first (C1) and second (C2) cervical vertebrae

Question 24

What is the likely diagnosis in a newborn with bilateral medial deviation of the forefoot that corrects with passive and active foot movement?

Answer 24

Metatarsus adductus

Question 25

What is the likely diagnosis in a newborn with rigid medial and upward deviation of the forefoot and hindfoot?

Answer 25

Clubfoot (talipes equinovarus)

Question 26

What is the likely diagnosis in a young Asian child that presents with one week of fever, conjunctivitis, lymphadenopathy, maculopapular rash, and hand/feet swelling?

Answer 26

Kawasaki disease

Question 27

What is the likely diagnosis in a young boy that presents with two months of progressive hip pain with limited internal rotation/abduction of the affected hip?

Answer 27

Legg-Calve-Perthes disease idiopathic osteonecrosis of the femoral head that typically presents in boys age 4 - 10 years old; initial X-rays may be negative

Question 28

What is the likely diagnosis in an exclusively breastfed infant that presents with craniotabes, rachitic rosary, and genu varum?

Answer 28

Rickets (secondary to vitamin D deficiency)

Question 29

What is the likely diagnosis in an infant that presents with head tilting toward one side with a neck mass that does not transilluminate on ultrasound?

Answer 29

Congenital muscular torticollis versus cystic hygroma, which does transilluminate on ultrasound

Question 30

What is the likely diagnosis in an infant that presents with leg-length discrepancy and asymmetric inguinal skin folds?

Answer 30

Developmental dysplasia of the hip this diagnosis is further supported by a palpable "clunk" when performing the Barlow and Ortolani maneuvers

Question 31

What is the likely diagnosis in an obese, adolescent boy that presents with progressive knee pain over the past month?

Answer 31

Slipped capital femoral epiphysis (SCFE) knee pain is a common presenting symptom of SCFE (referred pain from the hip)

Question 32

What is the next step in management for a child with suspected growing pains?

Answer 32

reassurance and supportive treatment e.g. massage, OTC analgesics

Question 33

What is the preferred imaging modality for diagnosis of developmental dysplasia of the hip in infants \< 4 months old?

Answer 33

Hip ultrasound

Question 34

What is the preferred imaging modality for diagnosis of developmental dysplasia of the hip in infants \> 4 months old?

Answer 34

Hip X-ray

Question 35

What is the recommended treatment for congenital clubfoot?

Answer 35

serial manipulation and casting if conservative management fails, surgical treatment may be indicated (preferably performed between 3 - 6 months of age)

Question 36

What is the recommended treatment for metatarsus adductus?

Answer 36

Reassurance ## Footnote the majority of cases resolve spontaneously

Question 37

What is the recommended treatment for slipped capital femoral epiphysis (SCFE)?

Answer 37

Immediate surgical pinning of the femoral head lessens the risk of avascular necrosis of the femoral head and chondrolysis

Question 38

What is the recommended treatment for transient synovitis?

Answer 38

Rest and NSAIDs

Question 39

What laboratory findings are associated with juvenile idiopathic arthritis (JIA)? ## Footnote RBCs: [...] WBCs: [...] Platelets: [...]

Answer 39

RBCs: decreased (anemia) WBCs: increased (leukocytosis) Platelets: increased (thrombocytosis) reflective of systemic inflammation

Question 40

What maneuvers are both diagnostic and therapeutic for radial head subluxation (nursemaid's elbow)?

Answer 40

forearm hyperpronation or supination plus flexion

Question 41

What muscle(s) are innervated by the superior gluteal nerve?

Answer 41

gluteus medius and minimus responsible for hip abduction; nerve damage results in contalateral hip drop ("trendelenburg sign")

Question 42

What nerve injury results in loss of hip abduction ("trendelenberg sign")?

Answer 42

Superior gluteal nerve injury injury is ipsilateral to the extremity on which the patient stands (contralateral nerve injury)

Question 43

What physical exam maneuvers are used to assess for developmental dysplasia of the hip?

Answer 43

Barlow and Ortolani maneuvers

Question 44

[...] disease presents with focal pain and swelling at the tibial tuberosity, secondary to traction apophysitis of the tibial tubercle.

Answer 44

**Osgood-Schlatter** disease presents with focal pain and swelling at the tibial tuberosity, secondary to traction apophysitis of the tibial tubercle. classically seen in young adolescent athletes after a recent growth spurt

Question 45

[...] typically occurs in children after being lifted or pulled by the arm.

Answer 45

**Radial head subluxation (nursemaid's elbow)** typically occurs in children after being lifted or pulled by the arm. the child typically presents with the affected arm in a pronated position

Question 46

Ewing sarcoma is a bone tumor associated with a characteristic "[...]" appearance on X-ray.

Answer 46

Ewing sarcoma is a bone tumor associated with a characteristic **"onion-skin"** appearance on X-ray. typically arises in white males in the first or second decade of life

Question 47

[...] is a bone tumor associated with a characteristic "onion-skin" appearance on X-ray.

Answer 47

**Ewing sarcoma** is a bone tumor associated with a characteristic "onion-skin" appearance on X-ray. typically arises in white males in the first or second decade of life

Question 48

Osteogenesis imperfecta may present with [...] due to translucent connective tissue over choroidal veins.

Answer 48

Osteogenesis imperfecta may present with **blue sclerae** due to translucent connective tissue over choroidal veins

Question 49

What MSK pathology is associated with metaphyseal cupping/fraying?

Answer 49

Rickets

Question 50

What MSK pathology predisposes to osteosarcoma?

Answer 50

Paget disease of bone