Classical Presentations

Question 1

1. Abdominal Pain
2. Ascites - the accumulation of fluid in the peritoneal cavity, causing abdominal swelling
3. Hepatomegaly - abnormal enlargement of the liver

Answer 1

Budd-Chiari Syndrome (Posthepatic Venous thrombosis)

Thrombosis = local coagulation or clotting of the blood in a part of the circulatory system

Question 2

1. Abdominal Pain
2. Diarrhea
3. Leukocytosis - an increase in the number of white cells in the blood, especially during an infection
4. Recent Antibiotic Use

Answer 2

Clostridium Difficile Infection

Question 3

Achilles Tendon Xanthoma

Xanthoma = an irregular yellow patch or nodule on the skin, caused by deposition of lipids

Answer 3

Familial Hypercholesterolemia

(Decreased LDL receptor signaling)

LDL = Low-density lipoprotein

Question 4

1. Adrenal Hemorrhage
2. Hypotension
3. DIC (Disseminated intravascular coagulation)

Answer 4

Waterhouse-Friderichsen Syndrome

Caused by Meningococcemia - defined as dissemination of meningococci (Neisseria meningitidis) into the bloodstream

Question 5

Anaphylaxis following a blood transfusion

Anaphylaxis = a severe, potentially life-threatening allergic reaction

Answer 5

IgA Deficiency

Question 6

Anterior “Drawer Sign” positive

Answer 6

Anterior Cruciate Ligament Injury

Question 7

1. Archnodactyly
2. Lens dislocation
3. Aortic Dissection
4. Hyperflexible Joints

Answer 7

Marfan syndrome (fibrillin defect)

Question 8

Athlete with Polycythemia

Polycythemia = abnormally increased concentration of hemoglobin in the blood

Answer 8

Secondary to Erythropoietin Injection

(Erythropoietin = a hormone secreted by the kidneys that increases the rate of production of red blood cells in response to falling levels of oxygen in the tissues.)

Question 9

1. Back Pain
2. Fever
3. Night Sweats

Answer 9

Pott Disease

Vertebral/Spinal Tuberculosis

Question 10

1. Bilateral Hilar Adenopathy (enlargement of the lymph nodes of pulmonary hila)
2. Uveitis [An inflammation of the middle layer of the eye (uvea)]

Answer 10

Sarcodosis (Noncaseating granuloma)

(Granuloma = a mass of granulation tissue, typically produced in response to infection, inflammation, or the presence of a foreign substance.)

(Granulation Tissue = new vascular tissue in granular form on an ulcer or the healing surface of a wound)

Question 11

Bilateral Acoustic Schwannomas

Bilateral Acoustic Schwannomas = a benign, usually slow-growing tumor that develops from the balance and hearing nerves supplying the inner ear

Answer 11

Neurofibromatosis Type 2

Neurofibromatosis = a condition that causes tumors to form in the brain, spinal cord, and nerves.

Question 12

Black Eschar on face of patient with Diabetic Ketoacidosis

Eschar = a dry, dark scab or falling away of dead skin, typically caused by a burn, or by the bite of a mite, or as a result of anthrax infection.

Ketoacidosis = a serious diabetes complication where the body produces excess blood acids (ketones).

Answer 12

Mucor or Rhizopus Fungal Infection

Question 13

Blue Sclera

Answer 13

Osteogenesis Impefecta (Type I collagen defect)

Question 14

Bluish Line on gingiva

Gingiva = Clinical Term for Gums

Answer 14

Burton Line (Lead poisoning)

Question 15

1. Bone Pain
2. Bone Enlargement
3. Arthritis

Answer 15

Paget Disease of Bone

Increased osteoblastic and osteoclastic activity

Question 16

1. Bounding pulses
2. Diastolic heart murmur
3. Head bobbing

Answer 16

Aortic Regurgitation

Aortic regurgitation = a condition in which blood leaks back through the aortic valve

Question 17

Butterfly facial rash and Raynaud phenomenon in a young female

Raynaud Phenomenon = a condition in which some areas of the body feel numb, blue, and cool in certain circumstances.

Butterfly Facial Rash = A red, flat facial rash over the bridge of the nose

Answer 17

Systemic Lupus Erythematosus

Question 18

1. Cafe-au-lait spots
2. Lisch Nodules
3. Cutaneous Neurofibromas
4. Pheochromocytomas
5. Optic Gliomas

Lisch Nodules = dome-shaped gelatinous masses developing on the surface of the iris. Gold-tan to brown in color.

Pheochromocytomas = a hormone-secreting tumor that can occur in the adrenal glands

Optic Gliomas = Optic Nerve/Chasm Tumor

Answer 18

1. Neurofibromatosis Type 1
2. Pheochromocytoma
3. Optic Glioma

Question 19

1. Cafe-au-lait spots (Unilateral)
2. Polyostotic Fibrous dysplasia
3. Precocious Puberty
4. Multiple Endocrine Abnormalities

Fibrous dysplasia = a disorder where normal bone and marrow is replaced with fibrous tissue,

Answer 19

McCune-Albright Syndrome (Mosaic G-Protein signaling mutation)