Rapid Review - Clinical Presentations Flashcards
1
Q
Abd pain, ascites, hepatomegaly
A
Budd-Chiari Syndrome
2
Q
Abd pain, diarrhea, leukocytosis, recent antibiotic use
A
C Diff Infection
3
Q
Achilles Tendon Xanthoma
A
Familial Hypercholesteremia ( Decreased LDL Receptor Signaling)
4
Q
Adrenal Hemorrhage, Hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (Meningococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA Deficiency
6
Q
Anterior Drawer Sign
A
ACL Injury
7
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyper flexible joint
A
Marfan Syndrome (Fibrillin Defect)
8
Q
Athlete with polycythemia
A
Secondary to EPO injection
9
Q
Back pain, fever, night sweats
A
Pott Disease (Vertebral TB)
10
Q
Bilateral Acoustic Shwannomas
A
Neurofibromatosis Type 2
11
Q
Bilateral Hilar Adenopathy, Uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient in DKA
A
Mucor or Rhizopus fungal infection
13
Q
Blue Sclera
A
Osterogenesis Imperfecta (Type 1 Collagen Defect)
14
Q
Bluish Line on Gingiva
A
Burton Line (Lead Poisoning)
15
Q
Bone Pain, Bone Enlargement, Arthritis
A
Paget Disease of the Bone (Increased osteoblast and osteoclast activity)
16
Q
Bounding Pulses, Wide Pulse Pressure, Diastolic Heart Murmur, Head Bobbing
A
Aortic Regurgitation
17
Q
Butterfly facial rash and raynaud phenomenon in young female
A
Lupus
18
Q
Cafe-au-lait spots, lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis Type 1
19
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
20
Q
Calf Pseudohypertrophy
A
Muscular Dystrophy (Duchennes, X-linked recessive frame shift mutation of the dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes
A
Kawasaki Disease (treat with IVIG and aspirin)
22
Q
Cherry Red Spots on Macula
A
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
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)
24
Q
Chest pain with ST depressions
A
Unstable Angina (negative troponin) NSTEMI (positive troponin)
25
Child uses arms to stand up from squat
Duchenne Muscular Dystrophy (Gower's Sign)
26
Child with fever later develops red rash on face that spreads to body
Erythema Infectiosum/Fifth Disease ("slapped cheeks" appearance, caused by Parvovirus B19)
27
Chorea, Dementia, Caudate Degeneration
Huntington Disease (autosomal dominant CAG repeat)
28
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital Toxoplasmosis
29
Chronic exercise intolerance, myalgia, fatigue, painful cramps, myoglobinuria
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
30
Cold Intolerance
Hypothyroidism
31
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear Opthalmoplegia (damage to MLF, may be unilateral or bilateral)
32
Continuous "machine like" heart murmur
PDA (close with indomethacin, keep open with PGE analogs)
33
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, graves disease, pretibial)
34
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid Syndrome (right sided cardiac valvular lesions, elevated 5-HIAA)
35
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi Sarcoma, associated with HHV-8
36
Deep, labored breathing, hyperventilation
DKA (Kussmaul Respirations)
37
Dermatitis, Dementia, Diarrhea
Pellagra (Niacin/Vitamin B3 Deficiency)
38
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet Beri Beri (Thiamin/Vitamin B 1 Deficiency)
39
Dog or cat bite resulting in an infection
Pasturella Multocida (cellulitis at inoculation site)
40
Dry eyes, dry mouth, arthritis
Sjogren Syndrome (autoimmune destruction of exocrine glands)
41
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
42
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos Syndrome (Type 5 collagen defect, Type 3 collagen defect seen in vascular subtype)
43
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
44
Episodic vertigo, tinnitus, hearing loss
Meniere's Disease
45
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis Fungoides (Cutaneous T-Cell Lymphoma) or Sezary Syndrome (mycosis fungoides plus malignant T cells in blood)
46
Facial muscle spasm upon tapping
Chvostek Sign (hypocalcemia)
47
Fat, female, forty, fertile
Cholelithiasis (gallstones)
48
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer Reaction (rapid lysis of spirochetes results in endotoxin release)
49
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
50
Fever, night sweats, weight loss
B Symptoms (staging) of Lymphoma
51
Fibrous plaques in soft tissues of penis with abnormal curvature
Peyronie Disease (connective tissue disorder)
52
Golden brown rings around peripheral cornea
Wilson Disease (Kayser-Fleischer rings due to copper accumulation)
53
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan Syndrome (HGPRT Deficiency, X-Linked Recessive)
54
Harmartomatous GI polyps, hyperpigmentation of mouth, feet, hands, and genitalia
Peutz-Jeghers Syndrome (inherited, benign polyposis can cause bowel obstruction, increased GI cancer risk)
55
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher Disease (glucocerebrosidase deficiency)
56
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (mutation in collagen 4)
57
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Brucy Syndrome (Bilateral Amygdala Lesion)
58
Hyperreflexia, Hypertonia, Positive Babinski Sign
UMN Damage
59
Hyporeflexia, Hypotonia, Atrophy, Fasciculations
LMN Damage
60
Hypoxemia, Polycythemia, Hypercapnia
Chronic Bronchitis (hyperplasia of mucous cells, "blue bloater")
61
Indurated, ulcerated genital lesion
Nonpainful = Chancre (primary syphilis, treponema pallidum)
| Painful with exudate = Chancroid (haemophilus ducreyi)
62
Infant with cleft palate/lip, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau Syndrome (Trisomy 13)
63
Infant with hypoglycemia and hepatomegaly
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Cori Disease (debranching enzyme deficiency)
Von Gierke Disease (Glucose 6-Phosphatase deficiency, more severe)
```
64
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards Syndrome (Trisomy 18)
65
Jaundice, palpable distended non-tender gallbladder
Courvoisier Sign (distal malignanct obstruction of biliary tree)
66
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme Disease from Borrelia)
67
Lucid interval after traumatic brain injury
Epidural Hematoma (middle meningeal artery rupture)
68
Male child, recurrent infections, no mature B Cells
Bruton Disease (X-Linked Agammaglobulinemia)
69
Mucosal bleeding and prolonged bleeding time
Glanzmann Thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
70
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
71
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner Syndrome (subtype of FAP)
72
Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance
Pompe Disease (Lysosomal alpha-1,4-glucosidase deficiency)
73
Neonate with arm paralysis following a difficult birth
Erb-Duchenne Palsy (superior trunk, C5 and C6 brachial plexus injury, "waiter's tip")
74
No lactation post-partum, absent menstruation, cold-intolerance
Sheehan Syndrome (pituitary infarction)
75
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
76
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma Pneumonia, infectious mononucleosis, CLL)
77
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud Phenomenon (vasospasm in extremities)
78
Painful, raised red lesions on pads of fingers/toes
Osler Nodes (infective endocarditis, immune complex deposition)
79
Painless erythematous lesions on palms and soles
Janeway Lesions (infective endocarditis, septic emboli, microabscesses)
80
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
81
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein Purpura (IgA Vasculitis affecting the skin and kidneys)
82
Pancreatic, pituitary, and parathyroid tumors
MEN 1 (autosomal dominant)
83
Periorbital/peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia
Nephrotic Syndrome
84
Pink complexion, dyspnea, hyperventilation
Emphysema (Centriacinar - Smoking; Panacinar - Alpha 1 anti-trypsin deficiency)
85
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome (multiple combined dysfunction of the proximal convoluted tubule)
86
Pruritic, purple, polygonal planar papules and plaques
Lichen Planus
87
Ptosis, miosis, anhydrosis
Horner's Syndrome (sympathetic chain lesion)
88
Pupil accommodates but does not react
Neurosyphilis
89
Rapidly progressing limb weakness that ascends following a GI or upper respiratory infection
Guillain-Barre Syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
90
Rash on palms and soles
Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted Fever
91
Recurrent cold and non-inflamed abscesses, unusual eczema, high serum IgE
Hyper-IgE (Job Syndrome - neutrophil chemotaxis abnormality)
92
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella Pneumoniae
93
Red "currant jelly" stools
Acute mesenteric ischemia (adults)
| Intussusception (kids)
94
Red, itchy, swollen rash of nipples/areola
Paget's disease of the breast - sign of underlying neoplasm
95
Red urine in the morning, fragile RBCs
Paroxysmal Nocturnal Hemoglobinuria
96
Bilateral Renal Cell Carcinoma, Hemangioblastomas, Angiomatosis, Pheochromocytoma
von-Hippel-Lindae Disease (Dominant tumor suppressor gene mutation)
97
Resting tremor, cog-wheel rigidity, akinesia, postural instability, shuffling gait
Parkinson Disease (loss of dopaminergic neurons from the substantia nigra)
98
Retinal hemorrhages with pale centers
Roth Spots (bacterial endocarditis)
99
Sever jaundice in a neonate
Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney's sign (appendicitis)
102
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi Anemia (genetic loss of DNA cross-link repair, often progresses to AML)
103
Single Palmar Crease
Down Syndrome
104
Situs Inversus, Chronic Sinusitis, Bronchiectasis, Infertility
Kartagener Syndrome (dynein arm defect affecting cilia)
105
Skin hyperpigmentation, hypotension, fatigue
Primary Adrenocortical Insufficiency (Addison Disease, causes increase of ACTH and alpha-MSH production)
106
Slow, progressive muscle weakness in boys
Becker Muscular Dystrophy (X-linked missense mutation in dystrophin, less severe than Duchene)
107
Small, irregular red spots on buccal/lingual mucos with blue/white centers
Koplik Spots (measles virus)
108
Smooth, moist, painless wart-like lesions on the genitals
Condylomata lata (secondary syphilis)
109
Splinter hemorrhages in finger nails
Bacterial Endocarditis
110
Strawberry Tongue
Scarlet Fever
| Kawasaki Disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner's Syndrome (45 XO)
112
Sudden swollen/painful big toe joint, joint
Gout (hyperuricemia)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency, can't hydroxylate proline/lysine for collagen synthesis)
114
Swollen, hard, painful finger joints
Osteoarthritis (Osteophytes on PIP - Bouchard Nodes; DIP - Heberden Nodes)
115
Systolic Ejection Murmur (crescendo-descrendo)
Aortic Stenosis
116
Telangiectasis, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematuria
Osler-Weber-Rendu Syndrome
117
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant, RET mutation)
118
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant, RET mutation)
119
Toe extension/fanning upon plantar scrape
Babinski Sign (UMN lesion)
120
Unilaterlal face drooping involving forehead
LMN Facial Nerve (CNVII) palsy
| UMN lesions spare the forehead
121
Urethritis, conjunctivitis, arthritis in male
Reactive Arthritis involving HLA-B27
122
Vascular birthmark (port-wine stain) on face
Nevus Flammeus (benign, but associated with Sturge-Weber Syndrome)
123
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss Syndrome (alcoholics and bulimics)
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple Disease (Tropheryma Whipplei)
125
"Worst headache of my life"
Subarachnoid hemorrhage
