Classic Presentations Flashcards
1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyham Syndrome (HGPRT deficiency; XLR)
2
Q
Situs inversus, chronic sinusitis, bronchiectasis, infertility
A
Kartagener Syndrome (primary ciliary dyskinesia); (dynein arm defect involving cilia)
3
Q
Blue sclera
A
Osteogenesis Imperfecta (type I collagen defect)
4
Q
Elastic skin, hyper mobility of joints, increased bleeding tendency
A
Ehlers-Dalos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
5
Q
Arachnodactyly, upward lens discoloration, aortic dissection, hyperflexible joints
A
Marfan Syndrome (fibrillar defect)
6
Q
Café-Au-Lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
7
Q
Calf pseudohypertrophy
A
Muscular Dystrophy (usually Duchenne, due to XLR frameshift mutation of dystrophin gene)
8
Q
Child uses arms to stand up from squat
A
Duchenne Muscular Dystrophy (Gower’s sign)
9
Q
Slow, progressive muscle weakness in boys
A
Becker Muscular Dystrophy (XL missense mutation due to dystrophin
10
Q
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
A
Patau Syndrome (trisomy 13)
11
Q
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
A
Edwards Syndrome (trisomy 18)
12
Q
Single palmar crease
A
Down Syndrome
13
Q
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
A
Wet beriberi (thiamine (vitamin B1) deficiency)
14
Q
Dermatitis, dementia, diarrhea
A
Pellagra (niacin (vitamin B3) deficiency)
15
Q
Swollen gums, mucosal bleeding, poor wound healing, petechiae
A
Scurvy (vitamin C deficiency); can’t hydroxylate proline/lysine for collagen synthesis
16
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)
17
Q
Infant with hypoglycemia, hepatomegaly
A
Cori disease (debranching enzyme deficiency) or Von Gierke (G-6-phosphatase deficiency; more severe)
18
Q
Infantile hypertrophic cardiomyopathy (myopathy), exercise intolerance
A
Pompe Disease (lysosomal a-1,4-glucosidase deficiency)
19
Q
Cherry red spots on macula
A
Tay Sachs (ganglioside accumulation) or Riemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
20
Q
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
A
Gaucher disease (glucocerebrosidase deficiency)
21
Q
Achilles tendon xanthoma
A
Familial Hypercholesterolemia (decreased LDL receptor signaling)
22
Q
Anaphylaxis following blood transfusion
A
IgA Deficiency
23
Q
Male child with recurrent infections, no mature B cells
A
Bruton Disease (X-Linked Agammaglobulinemia)
24
Q
Recurrent cold (non inflamed abscesses, unusual eczema, high serum IgE)
A
Hyper IgE Syndrome (Job Syndrome); neutrophil chemotaxis abnormality
25
Strawberry tongue
Kawasaki Disease, Scarlet Fever
26
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen Syndrome (meningococcemia)
27
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella Pneumoniae Pneumonia
28
Large rash with bulls eye appearance
Erythema Chronicum Nigrans from Ixodes tick bite (Lyme disease: Borrelia)
29
Indurated, ulcerated genital lesion
Non-painful: chancre (primary syphilis, T. Pallidum); Painful with exudate: chancroid (Haemophilus Ducreyi)
30
Pupil accommodates but doesn't react
Neurosyphilis (Argyll Robertson pupil)
31
Smooth, moist, painless, wart-like white lesion on genitals
Condylomata lata (secondary syphilis)
32
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
33
Dog or cat bite resulting in infection
Pastourelle Multocida (cellulitis at infection site)
34
Rash on palms and soles
Cocksackie A, Secondary Syphilis, RMSF
35
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus infection
36
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital Toxoplasmosis
37
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
38
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Kopek spots (measles = rubeola virus)
39
Back pain, fever, night sweats
Pott Disease (vertebral TB)
40
Child with a fever later develops red rash on face that spreads to body
Erythema Infectiosium (Fifth Disease = "Slapped Cheek"; parvovirus B19)
41
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. difficile infection
42
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
43
Systolic crescendo-decrescendo ejection murmur
Aortic stenosis
44
Continuous machine-like murmur
PDA (close with indomethacin, keep open with PGE analogs)
45
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
46
Chest pain with ST depressions on ECG
Angina (negative troponins) or NSTEMI (positive troponins)
47
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
48
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
49
Painless erythematous lesions on palms and soles
Laneway lesions (infective endocarditis, septic emboli/microabscesses)
50
Splinter hemorrhages in fingernails
Bacterial endocarditis
51
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
52
Distant heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
53
Cervical LAD, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki Disease (treat with IVIG and aspirin)
54
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein Purpurs (IgA vasculitis affecting skin and kidneys)
55
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
56
Skin hyperpigmentation, hypotension, fatigue
Primary Adrenocortical Insufficiency (eg: Addison Disease), causes increased ACTH and increased a-MSH production
57
Cold intolerance
Hypothyroidism
58
Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue
Myxedema (caused by hypothyroidism, Graves disease (pretibial))
59
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
60
No lactation postpartum, absent menstruation, cold intolerance
Sheehan Syndrome (postpartum hemorrhage leading to pituitary infarction)
61
Deep, labored breathing/hyperventilation
Diabetic Ketoacidosis (Kussmaul respirations)
62
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid Syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
63
Pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
64
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B (AD RET mutation)
65
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD RET mutation)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
68
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss Syndrome (alcoholic and bulimic patients)
69
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
70
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
71
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple Disease (Tropheryma whipplei)
72
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
73
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
74
Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers Syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
75
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth)
Gardner Syndrome (subtype of FAP)
76
Abdominal pain, ascites, hepatomegaly
Budd-Chiara Syndrome (post hepatic venous thrombosis)
77
Severe jaundice in neonate
Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)
78
Golden brown rings around peripheral cornea
Wilson's Disease
79
What are Kayser-Fleischer rings?
In Wilson's Disease they are rings around the cornea due to copper accumulation
80
Fat, female, forty, fertile, familial
Cholelithiasis (gallstones)
81
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi Anemia
82
What's the mechanism of Fanconi Anemia?
Genetic loss of DNA crosslink repair
83
What can Fanconi Anemia often progress to?
AML
84
Red urine in the morning, sailors take warning (fragile RBCs)
Paroxysmal Nocturnal Hemoglobinuria
85
Painful blue fingers/toes, hemolytic anemia
Cold Agglutinin Disease
86
What is Cold Agglutinin Disease
Autoimmune hemolytic anemia caused by Mycoplasma Pneumoniae, infectious mononucleosis, CLL
87
Mucosal bleeding and prolonged bleeding time
Glanzmann Thrombasthenia
88
What is Glanzmann Thrombasthenia?
Defect in platelet aggregation due to lack of GpIIb/IIIa
89
Fever, night sweats, weight loss
B symptoms of lymphoma
90
Erythroderma, LAD, hepatosplenomegaly, atypical T cells
Mycosis Fungoides (cutaneous T-cell lymphoma) or Sezary Syndrome (mycosis fungicides + malignant T-cells in the blood)
91
WBCs that look smudged
CLL
92
Athlete with polycythemia
Secondary to EPO injection
93
Neonate with arm paralysis following difficult birth, arm in Waiter's Tip position
Erb-Duchenne Palsy
94
What is Erb's palsy?
C5-C6 brachial plexus injury
95
Anterior drawer sign +
Anterior cruciate ligament injury
96
Bone pain, bone enlargement, arthritis
Paget disease of bone (increased osteoblast and increased osteoclast)
97
Swollen, hard, panful finger joints in an elderly individual, worse with activity
Osteoarthritis (osteophytes on PIP- Bouchard's, on DIP- Heberden's)
98
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
99
Dry eyes, dry mouth, arthritis
Sjogren Syndrome
100
What is Sjogren Syndrome?
Autoimmune destruction of exocrine glands
101
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
102
Butterfly facial rash and Raynaud's phenomenon in a young female
Systemic Lupus Erythematosus
103
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud Phenomenon (vasospasm in extremities)
104
Anticentromere antibodies
Scleroderma (CREST)
105
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi Sarcoma
106
HHV-8
Kaposi Sarcoma
107
Anti-desmoglein (anti-desmosome antibodies)
Pemphigus Vulgaris (blistering) "You're not gonna glean much from those blisters)
108
Pruritic, purple, polygonal, planar papules and plaques
Lichen Planus
109
Elevated AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (open neural tube defects)
110
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
111
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy Syndrome (bilateral amygdala lesion)
112
Lucid interval after TBI
Epidural Hematoma (middle meningeal artery rupture)
113
Worst headache of my life
Subarachnoid hemorrhage
114
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson's Disease
115
Parkinson's Disease pathophysiology
Loss of dopaminergic neurons in substantia nigra pars compacta
116
Chorea, dementia, caudate degeneration
Huntington's Disease (CAG)
117
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
118
Lesion in MLF
MS
119
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre Syndrome
120
Cafe au Lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF1
121
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber Syndrome)
122
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Lindau Disease (dominant tumor suppressor gene mutation)
123
Bilateral acoustic schwannomas
NF2
124
Hyperreflexia, hypertonia, atrophy, fasciculations
LMN damage
125
Unilateral facial drooping involving forehead
LMN damage (CN7 palsy)
126
UMN lesions spare the ____?
Forehead
127
Episodic vertigo, tinnitus, hearing loss
Meniere Disease
128
Ptosis, anhidrosis, miosis
Horner Syndrome (sympathetic lesion) "PAM is sympathetic when horny"
129
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF, may be unilateral or bilateral)
130
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemia rickets
Fanconi Syndrome
131
What is Fanconi Syndrome?
Multiple combined dysfunction of the PCT
132
Bluish line on gingiva
Burton line (lead poisoning)
133
Periorbital and/or peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
134
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
135
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner's Syndrome (XO)
136
Red, itchy, swollen rash of the nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
137
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (CT disorder) "Your peyronie is looking a little abnormally curved"
138
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells) "blue bloater"
139
Pink complexion, dyspnea, hyperventilation
Emphysema "pink puffer" centriacinar (smoking) or panacinar (a-1 antitrypsin deficiency)
140
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granuloma)
