First Aid Rapid Review: Peds

Question 1

Adrenal hemorrhage, hypotension, DIC. Disease/Dx?

Answer 1

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 2

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints. Disease/Dx?

Answer 2

Marfan syndrome (fibrillin defect)

Question 3

Blue sclera. Disease/Dx?

Answer 3

Osteogenesis imperfecta (type I collagen defect)

Question 4

Bluish line on gingiva. Disease/Dx?

Answer 4

Burton line (lead poisoning)

Question 5

Café-au-lait spots, Lisch nodules (iris hamartoma). Disease/Dx?

Answer 5

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

Question 6

Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities. Disease/Dx?

Answer 6

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Question 7

Calf pseudohypertrophy. Disease/Dx?

Answer 7

Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene

Question 8

Cherry-red spots on macula. Disease/Dx?

Answer 8

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Question 9

Child uses arms to stand up from squat. Disease/Dx?

Answer 9

Gowers sign (Duchenne muscular dystrophy)

Question 10

Child with fever later develops red rash on face that spreads to body. Disease/Dx?

Answer 10

Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)

Question 11

Continuous “machine-like” heart murmur. Disease/Dx?

Answer 11

PDA (close with indomethacin; open or maintain with misoprostol)

Question 12

Dark purple skin/mouth nodules in a patient with AIDS. Disease/Dx?

Answer 12

Kaposi sarcoma, associated with HHV-8

Question 13

Dog or cat bite resulting in infection. Disease/Dx?

Answer 13

Pasteurella multocida (cellulitis at inoculation site)

Question 14

Elastic skin, hypermobility of joints. Disease/Dx?

Answer 14

Ehlers-Danlos syndrome (type III collagen defect)

Question 15

Fever, cough, conjunctivitis, coryza, diffuse rash. Disease/Dx?

Answer 15

Measles

Question 16

Fever, night sweats, weight loss. Disease/Dx?

Answer 16

B symptoms (staging) of lymphoma

Question 17

Gout, intellectual disability, self-mutilating behavior in a boy. Disease/Dx?

Answer 17

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Question 18

Dermatitis, dementia, diarrhea. Disease/Dx?

Answer 18

Pellagra (niacin [vitamin B3] deficiency)

Question 19

Facial muscle spasm upon tapping. Disease/Dx?

Answer 19

Chvostek sign (hypocalcemia)

Question 20

Green-yellow rings around peripheral cornea. Disease/Dx?

Answer 20

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Question 21

Hereditary nephritis, sensorineural hearing loss, cataracts. Disease/Dx?

Answer 21

Alport syndrome (mutation in collagen IV)

Question 22

Hyperreflexia, hypertonia, Babinski sign present. Disease/Dx?

Answer 22

UMN damage

Question 23

Hyporeflexia, hypotonia, atrophy, fasciculations. Disease/Dx?

Answer 23

LMN damage

Question 24

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia. Disease/Dx?

Answer 24

Patau syndrome (trisomy 13)

Question 25

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration. Disease/Dx?

Answer 25

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Question 26

Infant with hypoglycemia, failure to thrive, and hepatomegaly. Disease/Dx?

Answer 26

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

Question 27

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect. Disease/Dx?

Answer 27

Edwards syndrome (trisomy 18)

Question 28

Jaundice, palpable distended non-tender gallbladder. Disease/Dx?

Answer 28

Courvoisier sign (distal obstruction of biliary tree)

Question 29

Large rash with bull’s-eye appearance. Disease/Dx?

Answer 29

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

Question 30

Lucid interval after traumatic brain injury. Disease/Dx?

Answer 30

Epidural hematoma (middle meningeal artery rupture)

Question 31

Male child, recurrent infections, no mature B cells. Disease/Dx?

Answer 31

Bruton disease (X-linked agammaglobulinemia)

Question 32

Mucosal bleeding and prolonged bleeding time. Disease/Dx?

Answer 32

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 33

Muffled heart sounds, distended neck veins, hypotension. Disease/Dx?

Answer 33

Beck triad of cardiac tamponade

Question 34

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance. Disease/Dx?

Answer 34

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

Question 35

Neonate with arm paralysis following difficult birth. Disease/Dx?

Answer 35

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

Question 36

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria. Disease/Dx?

Answer 36

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)

Question 37

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets. Disease/Dx?

Answer 37

Fanconi syndrome (proximal tubular reabsorption defect)

Question 38

Rapidly progressive leg weakness that ascends following GI/upper respiratory infection. Disease/Dx?

Answer 38

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 39

Recurrent colds, unusual eczema, high serum IgE. Disease/Dx?

Answer 39

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

Question 40

Red “currant jelly” stools. Disease/Dx?

Answer 40

Acute mesenteric ischemia (adults), intussusception (infants)

Question 41

Red urine in the morning, fragile RBCs. Disease/Dx?

Answer 41

Paroxysmal nocturnal hemoglobinuria

Question 42

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma. Disease/Dx?

Answer 42

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Question 43

Severe jaundice in neonate. Disease/Dx?

Answer 43

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 44

Short stature, inc incidence of tumors/leukemia, aplastic anemia. Disease/Dx?

Answer 44

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Question 45

Single palmar crease. Disease/Dx?

Answer 45

Down syndrome

Question 46

Situs inversus, chronic sinusitis, bronchiectasis, infertility. Disease/Dx?

Answer 46

Kartagener syndrome (dynein arm defect affecting cilia)

Question 47

Skin hyperpigmentation, hypotension, fatigue. Disease/Dx?

Answer 47

Addison disease (1° adrenocortical insufficiency causes inc ACTH and inc α-MSH production)

Question 48

Slow, progressive muscle weakness in boys. Disease/Dx?

Answer 48

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Question 49

Small, irregular red spots on buccal/lingual mucosa with blue-white center. Disease/Dx?

Answer 49

Koplik spots (measles; rubeola virus)

Question 50

Strawberry tongue. Disease/Dx?

Answer 50

Scarlet fever, Kawasaki disease, toxic shock syndrome

Question 51

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema. Disease/Dx?

Answer 51

Turner syndrome (45,XO)

Question 52

Swollen gums, mucosal bleeding, poor wound healing, petechiae. Disease/Dx?

Answer 52

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

Question 53

Toe extension/fanning upon plantar scrape. Disease/Dx?

Answer 53

Babinski sign (UMN lesion)

Question 54

Vascular birthmark (port-wine stain). Disease/Dx?

Answer 54

Hemangioma (benign, but associated with Sturge-Weber syndrome)