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Rapid Review > Rapid Review - Clinical Presentations > Flashcards

Rapid Review - Clinical Presentations Flashcards

1
Q

Abd pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome

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2
Q

Abd pain, diarrhea, leukocytosis, recent antibiotic use

A

C Diff Infection

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3
Q

Achilles Tendon Xanthoma

A

Familial Hypercholesteremia ( Decreased LDL Receptor Signaling)

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4
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (Meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA Deficiency

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6
Q

Anterior Drawer Sign

A

ACL Injury

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7
Q

Arachnodactyly, lens dislocation (upward), aortic dissection, hyper flexible joint

A

Marfan Syndrome (Fibrillin Defect)

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8
Q

Athlete with polycythemia

A

Secondary to EPO injection

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9
Q

Back pain, fever, night sweats

A

Pott Disease (Vertebral TB)

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10
Q

Bilateral Acoustic Shwannomas

A

Neurofibromatosis Type 2

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11
Q

Bilateral Hilar Adenopathy, Uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient in DKA

A

Mucor or Rhizopus fungal infection

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13
Q

Blue Sclera

A

Osterogenesis Imperfecta (Type 1 Collagen Defect)

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14
Q

Bluish Line on Gingiva

A

Burton Line (Lead Poisoning)

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15
Q

Bone Pain, Bone Enlargement, Arthritis

A

Paget Disease of the Bone (Increased osteoblast and osteoclast activity)

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16
Q

Bounding Pulses, Wide Pulse Pressure, Diastolic Heart Murmur, Head Bobbing

A

Aortic Regurgitation

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17
Q

Butterfly facial rash and raynaud phenomenon in young female

A

Lupus

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18
Q

Cafe-au-lait spots, lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis Type 1

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19
Q

Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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20
Q

Calf Pseudohypertrophy

A

Muscular Dystrophy (Duchennes, X-linked recessive frame shift mutation of the dystrophin gene)

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes

A

Kawasaki Disease (treat with IVIG and aspirin)

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22
Q

Cherry Red Spots on Macula

A

Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

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23
Q

Chest pain, pericardial effusion/friction rub, persistent fever following an MI

A

Dressler Syndrome (autoimmune mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

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24
Q

Chest pain with ST depressions

A 
Unstable Angina (negative troponin) 
NSTEMI (positive troponin)
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25
Q

Child uses arms to stand up from squat

A

Duchenne Muscular Dystrophy (Gower’s Sign)

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26
Q

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

A

Erythema Infectiosum/Fifth Disease (“slapped cheeks” appearance, caused by Parvovirus B19)

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27
Q

Chorea, Dementia, Caudate Degeneration

A

Huntington Disease (autosomal dominant CAG repeat)

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28
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital Toxoplasmosis

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29
Q

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

A

McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)

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30
Q

Cold Intolerance

A

Hypothyroidism

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31
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear Opthalmoplegia (damage to MLF, may be unilateral or bilateral)

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32
Q

Continuous “machine like” heart murmur

A

PDA (close with indomethacin, keep open with PGE analogs)

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33
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, graves disease, pretibial)

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34
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid Syndrome (right sided cardiac valvular lesions, elevated 5-HIAA)

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35
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi Sarcoma, associated with HHV-8

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36
Q

Deep, labored breathing, hyperventilation

A

DKA (Kussmaul Respirations)

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37
Q

Dermatitis, Dementia, Diarrhea

A

Pellagra (Niacin/Vitamin B3 Deficiency)

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38
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet Beri Beri (Thiamin/Vitamin B 1 Deficiency)

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39
Q

Dog or cat bite resulting in an infection

A

Pasturella Multocida (cellulitis at inoculation site)

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40
Q

Dry eyes, dry mouth, arthritis

A

Sjogren Syndrome (autoimmune destruction of exocrine glands)

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41
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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42
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

Ehlers-Danlos Syndrome (Type 5 collagen defect, Type 3 collagen defect seen in vascular subtype)

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43
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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44
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere’s Disease

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45
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis Fungoides (Cutaneous T-Cell Lymphoma) or Sezary Syndrome (mycosis fungoides plus malignant T cells in blood)

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46
Q

Facial muscle spasm upon tapping

A

Chvostek Sign (hypocalcemia)

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47
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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48
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer Reaction (rapid lysis of spirochetes results in endotoxin release)

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49
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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50
Q

Fever, night sweats, weight loss

A

B Symptoms (staging) of Lymphoma

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51
Q

Fibrous plaques in soft tissues of penis with abnormal curvature

A

Peyronie Disease (connective tissue disorder)

52
Q

Golden brown rings around peripheral cornea

A

Wilson Disease (Kayser-Fleischer rings due to copper accumulation)

53
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyhan Syndrome (HGPRT Deficiency, X-Linked Recessive)

54
Q

Harmartomatous GI polyps, hyperpigmentation of mouth, feet, hands, and genitalia

A

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

55
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher Disease (glucocerebrosidase deficiency)

56
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Syndrome (mutation in collagen 4)

57
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Brucy Syndrome (Bilateral Amygdala Lesion)

58
Q

Hyperreflexia, Hypertonia, Positive Babinski Sign

A

UMN Damage

59
Q

Hyporeflexia, Hypotonia, Atrophy, Fasciculations

A

LMN Damage

60
Q

Hypoxemia, Polycythemia, Hypercapnia

A

Chronic Bronchitis (hyperplasia of mucous cells, “blue bloater”)

61
Q

Indurated, ulcerated genital lesion

A

Nonpainful = Chancre (primary syphilis, treponema pallidum)

Painful with exudate = Chancroid (haemophilus ducreyi)

62
Q

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

A

Patau Syndrome (Trisomy 13)

63
Q

Infant with hypoglycemia and hepatomegaly

A 
Cori Disease (debranching enzyme deficiency) 
Von Gierke Disease (Glucose 6-Phosphatase deficiency, more severe)
64
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards Syndrome (Trisomy 18)

65
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier Sign (distal malignanct obstruction of biliary tree)

66
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme Disease from Borrelia)

67
Q

Lucid interval after traumatic brain injury

A

Epidural Hematoma (middle meningeal artery rupture)

68
Q

Male child, recurrent infections, no mature B Cells

A

Bruton Disease (X-Linked Agammaglobulinemia)

69
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann Thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

70
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

71
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner Syndrome (subtype of FAP)

72
Q

Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance

A

Pompe Disease (Lysosomal alpha-1,4-glucosidase deficiency)

73
Q

Neonate with arm paralysis following a difficult birth

A

Erb-Duchenne Palsy (superior trunk, C5 and C6 brachial plexus injury, “waiter’s tip”)

74
Q

No lactation post-partum, absent menstruation, cold-intolerance

A

Sheehan Syndrome (pituitary infarction)

75
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

76
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma Pneumonia, infectious mononucleosis, CLL)

77
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

Raynaud Phenomenon (vasospasm in extremities)

78
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler Nodes (infective endocarditis, immune complex deposition)

79
Q

Painless erythematous lesions on palms and soles

A

Janeway Lesions (infective endocarditis, septic emboli, microabscesses)

80
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

81
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein Purpura (IgA Vasculitis affecting the skin and kidneys)

82
Q

Pancreatic, pituitary, and parathyroid tumors

A

MEN 1 (autosomal dominant)

83
Q

Periorbital/peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia

A

Nephrotic Syndrome

84
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (Centriacinar - Smoking; Panacinar - Alpha 1 anti-trypsin deficiency)

85
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi Syndrome (multiple combined dysfunction of the proximal convoluted tubule)

86
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen Planus

87
Q

Ptosis, miosis, anhydrosis

A

Horner’s Syndrome (sympathetic chain lesion)

88
Q

Pupil accommodates but does not react

A

Neurosyphilis

89
Q

Rapidly progressing limb weakness that ascends following a GI or upper respiratory infection

A

Guillain-Barre Syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

90
Q

Rash on palms and soles

A

Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted Fever

91
Q

Recurrent cold and non-inflamed abscesses, unusual eczema, high serum IgE

A

Hyper-IgE (Job Syndrome - neutrophil chemotaxis abnormality)

92
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella Pneumoniae

93
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults)

Intussusception (kids)

94
Q

Red, itchy, swollen rash of nipples/areola

A

Paget’s disease of the breast - sign of underlying neoplasm

95
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal Nocturnal Hemoglobinuria

96
Q

Bilateral Renal Cell Carcinoma, Hemangioblastomas, Angiomatosis, Pheochromocytoma

A

von-Hippel-Lindae Disease (Dominant tumor suppressor gene mutation)

97
Q

Resting tremor, cog-wheel rigidity, akinesia, postural instability, shuffling gait

A

Parkinson Disease (loss of dopaminergic neurons from the substantia nigra)

98
Q

Retinal hemorrhages with pale centers

A

Roth Spots (bacterial endocarditis)

99
Q

Sever jaundice in a neonate

A

Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)

100
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (appendicitis)

101
Q

Severe RLQ pain with deep tenderness

A

McBurney’s sign (appendicitis)

102
Q

Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi Anemia (genetic loss of DNA cross-link repair, often progresses to AML)

103
Q

Single Palmar Crease

A

Down Syndrome

104
Q

Situs Inversus, Chronic Sinusitis, Bronchiectasis, Infertility

A

Kartagener Syndrome (dynein arm defect affecting cilia)

105
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary Adrenocortical Insufficiency (Addison Disease, causes increase of ACTH and alpha-MSH production)

106
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular Dystrophy (X-linked missense mutation in dystrophin, less severe than Duchene)

107
Q

Small, irregular red spots on buccal/lingual mucos with blue/white centers

A

Koplik Spots (measles virus)

108
Q

Smooth, moist, painless wart-like lesions on the genitals

A

Condylomata lata (secondary syphilis)

109
Q

Splinter hemorrhages in finger nails

A

Bacterial Endocarditis

110
Q

Strawberry Tongue

A

Scarlet Fever

Kawasaki Disease

111
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner’s Syndrome (45 XO)

112
Q

Sudden swollen/painful big toe joint, joint

A

Gout (hyperuricemia)

113
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency, can’t hydroxylate proline/lysine for collagen synthesis)

114
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (Osteophytes on PIP - Bouchard Nodes; DIP - Heberden Nodes)

115
Q

Systolic Ejection Murmur (crescendo-descrendo)

A

Aortic Stenosis

116
Q

Telangiectasis, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematuria

A

Osler-Weber-Rendu Syndrome

117
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant, RET mutation)

118
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant, RET mutation)

119
Q

Toe extension/fanning upon plantar scrape

A

Babinski Sign (UMN lesion)

120
Q

Unilaterlal face drooping involving forehead

A

LMN Facial Nerve (CNVII) palsy

UMN lesions spare the forehead

121
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive Arthritis involving HLA-B27

122
Q

Vascular birthmark (port-wine stain) on face

A

Nevus Flammeus (benign, but associated with Sturge-Weber Syndrome)

123
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholics and bulimics)

124
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple Disease (Tropheryma Whipplei)

125
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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