Classic Presentations

Question 0

Achilles’ tendon

Xanthoma

Answer 0

Familial hypercholesterolemia ( decrease in LDL receptor)

Question 1

Abdominal pain
As cites
Hepatomegaly

Answer 1

Budd chiari syndrome (postheptatic venous thrombosis)

Question 2

Adrenal hemorrhage
DIC
hypotension

Answer 2

Waterhouse friederson syndrome

Caused by n. Meningitis which is gram negative diplococci, oxidase positive, non encapsulated

Question 3

Anterior drawer sign positive

Answer 3

Anterior crucially ligament injury

Question 4

Arachnodactyly
Lens dislocation
Aortic dissection
Hyper flexible joints

Answer 4

Marfan syndrome 
(Fibrillin defect)

Question 5

Athlete with polycythemia

Answer 5

Secondary to erythropoietin injection

Question 6

Back pain
Fever
Night sweats
Weight loss

Answer 6

Pott disease (vertebral tb)

Question 7

Bilateral hilar adenopathy

Uveitis

Answer 7

Sarcoidosis (noncaseating granulomas)

Question 8

Blue sclera

Answer 8

Osteogenesis imperfecta (type 1 collagen defect)

Question 9

Bluish line on gingiva

Answer 9

Burton line (lead poisoning)

Question 10

Bone pain
Bone enlargement
Arthritis

Answer 10

Paget disease of bone (increase in oateoblastic and osteoclastic activity)

Question 11

Bounding pulses
Diastolic heart murmurs
Head bobbing

Answer 11

aortic regurgitation

Question 12

Butterfly facial rash

Raynaud phenomenon in young female

Answer 12

Systemic lupus erythematosus

Question 13

Cafe au lait spots 
Lisch nodules ( iris harmatoma)

Answer 13

Neufibromatous type 1

Plus pheochromocytoma, optic gliomas

Question 14

Cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities

Answer 14

Mccune Albert syndrome (mosaic G protein signaling mutation)

Question 15

Calf pseudohypertrophy

Answer 15

Muscular dystrophy (most commonly Duchenne)

There is no dystrophin gene - x linked recessive deletion

Common sign is Gower’s sign

Question 16

Cherry red spots on macula

Answer 16

Tay Sachs disease ( ganglioside accumulation)

Niemann pick Disease ( spingomyelin accumulation)

Central retinal artery occlusion

Question 17

Chest pain on exertion

Answer 17

Angina

• stable is with moderate exertion
• unstable is with minimal or no exertion

Question 18

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

Answer 18

Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis

1-12 weeks after acute episode

Question 19

Child uses arms to stand up from squat

Answer 19

Gower’s sign

- seen in Duchenne

Question 20

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

Answer 20

Parvovirus B19
(Erythema infectiosum/fifth disease)

“Slapped cheeks”

Question 21

Chorea
Dementia
Caudate degeneration

Answer 21

Huntington disease 
(Autosomal dominant with a repeated CAG expansion)

Question 22

Chronic exercise intolerance

With myalgia, fatigue, painful cramps, myoglobinuria

Answer 22

McArdle disease 
(Muscle glycogen phosphorylase deficiency)

Question 23

Cold intolerance

Answer 23

Hypothroidism

Question 24

Continuous "machine like" heart murmur

Answer 24

Patent ductus arteriosus Close with indometacin Open with misoprostol

Question 25

Conjugate lateral gaze palsy | HoriZontal Diplopia

Answer 25

Inter nuclear opthalmoplegia (Damage to MLF Bilateral multiple sclerosis) (Unilateral stroke)

Question 26

Dark purple skin/mouth nodules in patient with AIDs

Answer 26

Kaposi sarcoma | Associated with HHV 8

Question 27

Cutaneous/dermal edema due to connective tissue deposition

Answer 27

Myxedema | Caused by Hypothyroidism and in Graves' disease (pretibial

Question 28

Deep labored breathing /hyperventilation

Answer 28

``` Kussmaul respirations (Diabetic ketoacidosis - metabolic acidosis) ```

Question 29

Dermatitis Dementia Diarrhea

Answer 29

Pellagra | Niacin vitamin b3 deficiency

Question 30

Dilated cardiomyopathy Edema Alcoholism Malnutrition

Answer 30

``` Wet beriberi (Thiamine (b1) deficiency) ```

Question 31

Dog or cat but resulting in infection

Answer 31

Pasturella multocida | Cellulitis at site of inoculation

Question 32

Dry eyes Dry mouth Arthritis

Answer 32

``` Sjogren syndrome ( autoimmune destruction of exocrine glands) ```

Question 33

Dysphasia (esophageal webs) Glossitis Iron deficiency anemia

Answer 33

Plummer Vinson syndrome | can lead to esophageal squamous cell carcinoma

Question 34

Elastic skin | Hyper mobility of joints

Answer 34

Ehlers Danos syndrome (type 3 collagen defect)

Question 35

Enlarged, hard left supraventricular node

Answer 35

Virchow node ( abdominal metastasis)

Question 36

Erythroderma Lymphadenopathy Hepatospenomegaly Atypical T cells

Answer 36

Mycosis fungiodes (cutaneous T cell lymphoma) Sezary syndrome (Mycosis fungiodes and malignant T cells in blood)

Question 37

Facial muscle spasm upon tapping

Answer 37

Chvostek sign (in hypocalcemic)

Question 38

Fat Female Forty Fertile

Answer 38

Cholelithiasis | Gallstones

Question 39

Fever, chills Headache Myalgia following antibiotic tx for syphillis

Answer 39

Jarisch Herxheimer reaction | Rapid lysis of spirochetes resulting in toxin release

Question 40

Fever Night sweats Weight loss

Answer 40

B symptoms (Staging of lymphoma) Hodgkin's lymphoma usually results in b symptoms

Question 41

``` Fever, cough Conjunctivitis Coryza Diffuse rash Photophobia ```

Answer 41

Measles (Morbillivirus)

Question 42

Hyperplagia Hyper sexuality Hyperorality Hyperdocility

Answer 42

Kluver bucy syndrome | bilateral amygdaloid lesion

Question 43

Hyper reflexia Hypertonic Babinski sign present

Answer 43

Upper motor neuron lesion

Question 44

Hyporeflexia Hypotonia Atrophy Fasciculations

Answer 44

Lower motor neuron damage

Question 45

Hypoexneia Polycythemia Hypercapnia

Answer 45

"Blue bloater" | Chronic bronchitis - hyperplasia of mucous cells

Question 46

Indurated, ulcerated genital lesion

Answer 46

Nonpainful - chancre - primary syphillis - treponema pallium Painful, with exudate = chancroid ( haemophilus ducryei)

Question 47

Infant with cleft lip with palate Microcephalic or holoprosencephaly Polydactyly Cutis aplasia

Answer 47

Patau syndrome | Trisomy 13

Question 48

Fibrous plaques in soft tissue of penis

Answer 48

Peyronie's disease (connective tissue disorder)

Question 49

Gout, mental retardation, self-mutilating behavior in a boy

Answer 49

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) -- reduced ability to utilize vit B12 --> macrocytic anemia and show hypersegmented neutrophils

Question 50

Green yellow rings around peripheral cornea

Answer 50

Kayser-Fleischer rings (copper accumulation from Wilson's disease)

Question 51

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 51

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

Question 52

Heptaosplenomeglay, osteroporosis, neurologic symptoms

Answer 52

Gaucher's disease (glucocerebrosidase deficiency)

Question 53

Hereditary nephritis, sensorineural hearing loss, cataracts "I can't see, I can't hear, I can't pee"

Answer 53

Alport Syndrome (mutation in alpha chain of collagen IV) "Strong, slippery, bloody, BM"