Classic Presention + Diagnosis/Disease Flashcards

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
Conjugate Lateral Gaze Palsy + Horizontal Diplopia
Internuclear opthalmoplegia (damage to the MLF --> Bilateral = MS vs. Unilateral = Stroke)
25
Continuous "Machine Like" Heart Murmurs
PDA - Patent Ductous Arteriousus - Close with indomethacin
26
Cutaneous/Dermal Edema due to connective tissue depostion
Myxedema --> Caused by hypothyroidsm + Graves' disease
27
Dark Purple Skin/Mouth Nodules in AIDS Patients
Kaposi Sarcoma --> Associated with HHV-8
28
Deep, Labored breathing/hyperventilation
Kussmaul Respirations (diabetic ketoacidosis)
29
Dermatitis, dementia, diahrrea
Pellagra (Niacin/B2 deficiency)
30
Dilated Cardiomyopathy + Edema + Alcoholism or Malnutrion
Wet beriberi (Thiamine/B1 deficiency)
31
Dog or cate bite resulting in infection
Pasteurella multicida (cellulitis at the inoculation site)
32
Dry eyes + Dry Mouth + Arthritis
Sjogren Syndrome (Autonomic destruction of exocrine glands)
33
Dysphagia + Glossitis + Iron Deficiency + Anemia
Plummer-Vinson syndrome - may progress to esophageal squamous cell carcinoma
34
Elastic Skin + Hyper-mobility of joints
Ehlers-Danlos syndrome - Type III Collagen Defect
35
Enlarge + Hard Left Supraclavicular Node
Virchow Node (Abdominal Metastasis)
36
Erythroderma + Lymphadenopathy + Hepatosplenomegaly + Atypical T-Cells
Mycosis fungoides (cutaneous T-Cell Lymphoma)
37
Facial Muscle Spasm upon tapping
Chovstek Sign (Hypocalcemia)
38
Fat + Female + Forty + Febrile
Cholelithiasis (gallstones)
39
Fever + Chills + Headache + Myalgia following antibiotics for syphilis
Jarisch-Herxheimer Reaction --> Rapid Lysis of spirochetes results in toxin release
40
Fever + Cough + Conjunctivitis + Coryza + Diffuse Rash
Measles
41
Fever + Night Sweats + Weight Loss
B Symptoms (staging) of Lymphoma
42
Fibrous plaques in the soft tissue of the penis
Peyronie Disease (connective tissue disorder)
43
Gout + Intellectual Disability + Self Mutilating Behavior in a male
Lesch-Neyan Syndrome - HGPRT Deficiency + X Linked Recessive
44
Green-Yellow Rings around the Cornea
Kayser-Fleischer Rings --> Copper Accumulation from Wilson's Disease
45
Hamartomatous GI Polyps + Hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction)
46
Hepatosplenomegaly + Osteoporosis + Neurologic Symptoms
Gaucher Disease - Lysosomal Storage Disease (Glucocerebrosidase Deficiency)
47
Hereditary Nephritis + Sensorineural hearing loss + cataracts
Alport syndrome (mutation in collagen IV)
48
Hyperphagia + Hypersexuality + Hyperorality + Hyperdocility
Kluver-Bucy Syndrome - Bilateral Amydala lesion
49
Hyperreflexia + Hypertonia + Babinski sign present
UMN Damage
50
Hypereflexia + Hypotonia + Atrophy + Fasciculation
LMN Damage
51
Hypoxemia + Polycythemia + Hypercapnia
Blue bloater - Chronic bronchitis + hyperplasia of mucous cells
52
Indurated + Ulcerated Genital Lesions
Non-painful --> Primary Syphilis + Treponema pallidum | Painful with exudate --> Haemophilus ducreyi
53
Infant with cleft lip/palate + Microcephaly/Holoprosencephaly + Polydactyly + Cutis Aplasia
Patau Syndrome --> Trisomy 13
54
Infant with failure to thrive + hepatosplenomegaly + neurodegeneration
Niemann-Pick Disease --> Genetic Spingomyelinase Deficiency - Lysosomal Storage Disease