Classic Presention + Diagnosis/Disease Flashcards

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0
Q

Achilles Tendon Xanthoma

A

Familial Hypercholesterolemia (Low LDL Receptor Signaling)

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1
Q

Abdominal Pain + Ascities + Hepatomegaly

A

Budd-Chiari Syndrome (Post-Hepatic Venous Thrombosis)

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2
Q

Adrenal Hemorrhage + Hypotension + DIC

A

Waterhouse-Friderichsen Syndrome (Meningococcemia)

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3
Q

Anterior Drawer Sign (Positive)

A

ACL Injury

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4
Q

Arachnodactyly + Lens Dislocation + Aortic Dissection + Hyper-flexible Joints

A

Marfan Syndrome (Fibrillin Defect)

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5
Q

Athlete with Polycythemia

A

Secondary to Erythropoietin Injection

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6
Q

Back Pain + Fever + Night Sweats + Weight Loss

A

Potts Disease (Vertebral TB)

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7
Q

Bilateral Hilar Adenopathy + Uveitis

A

Sarcoidosis (Noncaseating Granulomas)

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8
Q

Blue Sclera

A

Osteogenesis imperfecta (Type 1 Collagen)

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9
Q

Bluish Line on Gingiva

A

Burton Line (Lead Poisoning)

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10
Q

Bone Pain + Bone enlargement + Arthritis

A

Paget Disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses + diastolic heart murmur + head bobbing

A

Aortic Regurgitation

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12
Q

Butterfly facial rash + Raynaud Phenomenon in a young female

A

SLE (Lupus)

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13
Q

Cae-au-lait spots + Lisch nodules (iris hamartoma)

A

Neurofibromatosis Type 1 (and pheochromocytoma/optic gliomas)

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14
Q

Cafe-au-lait spots + polyostotic fibrous dysplasia + precocious puberty + multiple endocrine abnormalities

A

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

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15
Q

Calf Pseudohypertrophy

A

Muscular Dystrophy (Must Likely Duchenne’s) –> X-Linked Recessive (deletion of the dystrophin gene)

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16
Q

“Cherry-Red” Spots on the macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) (Lysosomal storage disease)

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17
Q

Chest pain on exertion

A

Angina (stable with moderate exertion vs. unstable with minimum exertion)

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18
Q

Chest Pain + Pericardial Effusion + Friction Rub + Persistent Fever –> All Post MI

A

Dressler Syndrome (Autoimmune-mediated Post MI fibrinous pericarditis 1-12 weeks after the acute MI)

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19
Q

Child uses arms to stand up from a squat

A

Gowers Sign - Duchenne Muscular Dystrophy

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20
Q

Child with fever later develops a facial rash that spreads to the body

A

Slapped Check Rash - Parovirus B19 (Fifths Disease)

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21
Q

Chorea + Demential + Caudate Degeneration

A

Huntington’s Disease (Autosomal Dominant CAG Expansion)

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22
Q

Chronic Exercise Intolerance with myalgia + fatigue + painful cramps

A

McArdle Disease - Muscle glycogen phosphorylase deficiency

23
Q

Cold Intolerance

A

Hypothroidism

24
Q

Conjugate Lateral Gaze Palsy + Horizontal Diplopia

A

Internuclear opthalmoplegia (damage to the MLF –> Bilateral = MS vs. Unilateral = Stroke)

25
Q

Continuous “Machine Like” Heart Murmurs

A

PDA - Patent Ductous Arteriousus - Close with indomethacin

26
Q

Cutaneous/Dermal Edema due to connective tissue depostion

A

Myxedema –> Caused by hypothyroidsm + Graves’ disease

27
Q

Dark Purple Skin/Mouth Nodules in AIDS Patients

A

Kaposi Sarcoma –> Associated with HHV-8

28
Q

Deep, Labored breathing/hyperventilation

A

Kussmaul Respirations (diabetic ketoacidosis)

29
Q

Dermatitis, dementia, diahrrea

A

Pellagra (Niacin/B2 deficiency)

30
Q

Dilated Cardiomyopathy + Edema + Alcoholism or Malnutrion

A

Wet beriberi (Thiamine/B1 deficiency)

31
Q

Dog or cate bite resulting in infection

A

Pasteurella multicida (cellulitis at the inoculation site)

32
Q

Dry eyes + Dry Mouth + Arthritis

A

Sjogren Syndrome (Autonomic destruction of exocrine glands)

33
Q

Dysphagia + Glossitis + Iron Deficiency + Anemia

A

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

34
Q

Elastic Skin + Hyper-mobility of joints

A

Ehlers-Danlos syndrome - Type III Collagen Defect

35
Q

Enlarge + Hard Left Supraclavicular Node

A

Virchow Node (Abdominal Metastasis)

36
Q

Erythroderma + Lymphadenopathy + Hepatosplenomegaly + Atypical T-Cells

A

Mycosis fungoides (cutaneous T-Cell Lymphoma)

37
Q

Facial Muscle Spasm upon tapping

A

Chovstek Sign (Hypocalcemia)

38
Q

Fat + Female + Forty + Febrile

A

Cholelithiasis (gallstones)

39
Q

Fever + Chills + Headache + Myalgia following antibiotics for syphilis

A

Jarisch-Herxheimer Reaction –> Rapid Lysis of spirochetes results in toxin release

40
Q

Fever + Cough + Conjunctivitis + Coryza + Diffuse Rash

A

Measles

41
Q

Fever + Night Sweats + Weight Loss

A

B Symptoms (staging) of Lymphoma

42
Q

Fibrous plaques in the soft tissue of the penis

A

Peyronie Disease (connective tissue disorder)

43
Q

Gout + Intellectual Disability + Self Mutilating Behavior in a male

A

Lesch-Neyan Syndrome - HGPRT Deficiency + X Linked Recessive

44
Q

Green-Yellow Rings around the Cornea

A

Kayser-Fleischer Rings –> Copper Accumulation from Wilson’s Disease

45
Q

Hamartomatous GI Polyps + Hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction)

46
Q

Hepatosplenomegaly + Osteoporosis + Neurologic Symptoms

A

Gaucher Disease - Lysosomal Storage Disease (Glucocerebrosidase Deficiency)

47
Q

Hereditary Nephritis + Sensorineural hearing loss + cataracts

A

Alport syndrome (mutation in collagen IV)

48
Q

Hyperphagia + Hypersexuality + Hyperorality + Hyperdocility

A

Kluver-Bucy Syndrome - Bilateral Amydala lesion

49
Q

Hyperreflexia + Hypertonia + Babinski sign present

A

UMN Damage

50
Q

Hypereflexia + Hypotonia + Atrophy + Fasciculation

A

LMN Damage

51
Q

Hypoxemia + Polycythemia + Hypercapnia

A

Blue bloater - Chronic bronchitis + hyperplasia of mucous cells

52
Q

Indurated + Ulcerated Genital Lesions

A

Non-painful –> Primary Syphilis + Treponema pallidum

Painful with exudate –> Haemophilus ducreyi

53
Q

Infant with cleft lip/palate + Microcephaly/Holoprosencephaly + Polydactyly + Cutis Aplasia

A

Patau Syndrome –> Trisomy 13

54
Q

Infant with failure to thrive + hepatosplenomegaly + neurodegeneration

A

Niemann-Pick Disease –> Genetic Spingomyelinase Deficiency - Lysosomal Storage Disease