FA: Rapid Review

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-chiaria Syndrome (posthepatic venous throbmosis)

Question 2

Achilles tendo xanthoma

Answer 2

Famililia hypercholesterolemia (Low LDL R signaling)

Question 3

aortic dissection, hyperflexible , arachnodactyly, lens dislocation

Answer 3

Marfans–fibrillin defect

Question 4

+ anterior drawer sign

Answer 4

Anterior Cruciate ligament injury

Question 5

Adrenal hemorrhage, hypOtension, DIC

Answer 5

Waterhouse-Friderichsen syndrome (menigococcemia)

Question 6

Athlete with polycythemia

Answer 6

secondary to EPO injection

Question 7

Back pain, fever, night sweats, weight loss

Answer 7

Pott disease (vertebral TB)

Question 8

Bilateral hilar adenopathy, uveitis

Answer 8

Sacroidosis (noncaseating granulomas)

Question 9

Blue sclera

Answer 9

Osteogenesis Imperfecta (type I collagen defect)

Question 10

bluish line on gingiva

Answer 10

Burton line (lead poisoning)

Question 11

Bone pain/enlargement, arthritis

Answer 11

Pagets (increased osteoblastic and osteoclastic activity)

Question 12

Bounding pulses, diastolic heart murmur, head bobbin

Answer 12

Aortic regurgitation

Question 13

Butterfly facial rash and raynaud phenomenon in young female

Answer 13

SLE

Question 14

Cafe-au-lait spots, polyostotic firbrous dysplasia, precocoius puberty, multiple endocrine abnormalities

Answer 14

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

Question 15

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Answer 15

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

Question 16

Calf pseudohypertrophy

Answer 16

Muscular dystrophy (often Duchennes); X linked recessive deletion of dystrophin

Question 17

“Cherry red spots” on macula

Answer 17

Tay-sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retina artery occlusion

Question 18

chest pain on exertion

Answer 18

angina (stable: with moderate exertion; unstable; with minimal)

Question 19

chest pain, pericardial effusion/frx rub, persistent fever following MI

Answer 19

Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 wks after acute episode)

Question 20

Child uses arms to stand up from squat

Answer 20

Gowers sign (Duchenne muscular dystrophy)

Question 21

Child with fever later develops rash on face that spreads to body

Answer 21

“Slapped cheeks” (erthythema infectiosum/5th disease; parvovirus B19)

Question 22

Chorea, dementia, caudate degeneration

Answer 22

Huntington disease (autosomal dominant CAG repeat expansion)

Question 23

Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

Answer 23

McArdle Disease (muscle glycogen phosphorylase deficiency)

Question 24

Cold intolerance

Answer 24

Hypothyroidism

Question 25

Conjugate lateral gaze palsy, horizontal diplopia

Answer 25

Internuclear opthalmaoplegia (damage to MLF; bilateral [mutliple sclerosis], unlateral [stroke])

Question 26

Contiuous machine like heart murmur

Answer 26

PDA... close with indomethacin; open or maintain with misoprostol

Question 27

Cutaneous/dermal edema d/t CT deposition

Answer 27

Myxedema (cause by hypothyroidism, Graves disease [pretibial])

Question 28

Dark purple skin/mouth nodules in pt w/ AIDS

Answer 28

Kaposis sarcoma, associated with HHV-8

Question 29

Deep, labored breathing/hyperventilation

Answer 29

Kussmaul respirations (diabetic ketoacidosis)

Question 30

dermatitis, dementia, diarrhea

Answer 30

Pellagra (niacin [Vitamin b3]) deficiency

Question 31

dog or cat bite--> infection

Answer 31

Pasteurella multocida (cellulitis at inoculation site)

Question 32

dry eyes, dry mouth, arthritis

Answer 32

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 33

Dysphagia (esophageal webs) glossitis, Fe deficiency, anemia

Answer 33

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Question 34

Elastic skin, hypermobility of joints

Answer 34

Ehlers-Danlos (type III collagen)

Question 35

enlarged, hard left supraclavicular node

Answer 35

Virchow node (abdominal metastasis)

Question 36

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 36

myosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (myocosis fungoides + malignant T cells in blood)

Question 37

Facial muscle spasm upon tapping

Answer 37

Chvostek sign (hypoCa++)

Question 38

fate, female, forty, fertile

Answer 38

Cholelithiasis (gall stones)

Question 39

fever, chills, headache, myalgia following antibiotic tx for syphillis

Answer 39

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

Question 40

fever, cough, conjunctivitis, coryza, diffuse rash

Answer 40

measels

Question 41

fibrous plaques in soft tissue of penis

Answer 41

Peyronie disease (CT disorder)

Question 42

fever, night sweats, weight loss

Answer 42

B symptoms (staging) of lymphoma

Question 43

gout, intellectual disability, self-mutalating behaviour

Answer 43

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

Question 44

green-yellow rings around peripheral cornea

Answer 44

Kayser-Fleischer rings (Copper accumulation from Wilson disease)

Question 45

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 45

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase risk of cancer, mainly GI)

Question 46

hepatosplenomegaly, osteoporosis, neurologic symptoms

Answer 46

Gaucher disease (glucocerebrosidase deficiency)

Question 47

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 47

Alport Syndrome (mutation in collagen IV)

Question 48

hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 48

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 49

Hyperreflexia, hypertonia, babinski sign present

Answer 49

UMN damage

Question 50

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 50

LMN damage

Question 51

Hypoxemia, polycythemia, hypercapnia

Answer 51

"Blue Bloater"--chronic bronchitis; hyperplasia of mucous cells

Question 52

Indurated, ulcerated genital lesion

Answer 52

Nonpainful; chancre (primary syphillis; Treponema pallidum) | Painful with exudate: chancroid; Haemophilus ducreyi

Question 53

infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 53

Patau syndrome (trisomy 13)

Question 54

Infant with FTT, hepatosplenomegaly, neurodegeneration

Answer 54

Niemann-Pick disease (genetic sphingomyelinase deficiency)