RAPID REVIEW CLASSIC PRESENTATIONS Flashcards
1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
2
Q
Situs inversus, chronic sinusitis, bronchiectasis, infertility
A
Kartagener syndrome (dynein arm defect affecting cilia)
3
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
4
Q
Elastic skin, hypermobility of joints,bleeding tendency
A
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
5
Q
Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (Gs-protein activating mutation)
7
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
8
Q
Child uses arms to stand up from squat
A
Duchenne muscular dystrophy (Gowers sign)
9
Q
Slow, progressive muscle weakness in boys
A
Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)
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 disease (glucose-6-phosphatase deficiency, more severe)
18
Q
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
A
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
19
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
20
Q
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
A
Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency)
21
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (LDL receptor signaling)
22
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
23
Q
Male child, recurrent infections, no mature B cells
A
Bruton disease (X-linked agammaglobulinemia)
24
Q
Recurrent cold (noninflamed) abscesses, eczema, high serum IgE,eosinophils
A
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
25
“Strawberry tongue”
Scarlet fever
| Kawasaki disease
26
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
27
Back pain, fever, night sweats
Pott disease (vertebral TB)
28
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
29
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
30
Large rash with bull’s-eye appearance
Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)
31
Ulcerated genital lesion
Nonpainful, indurated: chancre (1° syphilis, Treponema, pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
32
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
33
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2° syphilis)
34
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
35
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
36
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
37
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
38
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
39
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appareance, caused by parvovirus B19)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
41
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
42
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
43
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
44
Continuous “machine-like” heart 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 (⊝ troponins) or NSTEMI (⊕ 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
Janeway 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 lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot
```
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
changes
```
54
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects 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
1° adrenocortical insufficiency > ACTH, ^ α-MSH (eg, Addison disease)
57
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, ^ 5-HIAA)
58
Cold intolerance, weight gain, brittle hair
Hypothyroidism
59
Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
60
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
61
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
62
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
63
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
64
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B (autosomal dominant RET mutation)
65
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
68
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
69
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
70
Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea
Whipple disease (Tropheryma whipplei)
71
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
72
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
73
Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction;cancer risk, mainly GI)
74
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
75
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
76
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
77
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
78
Fat, female, forty, fertile
Cholelithiasis (gallstones)
79
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
80
Bluish line on gingiva
Burton line (lead poisoning)
81
Short stature, café-au-lait spots, thumb/radial defects, ^ incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
82
Red/pink urine, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
83
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious
mononucleosis, CLL)
84
Petechiae, mucosal bleeding, prolonged bleeding time
Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)
85
Fever, night sweats, weight loss
B symptoms of malignancy
86
Skin patches/plaques, Pautrier microabscesses, atypical T cells
```
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant
T cells in blood)
```
87
WBCs that look “smudged”
CLL
88
Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)
89
Anterior drawer sign ⊕
Anterior cruciate ligament injury
90
Bone pain, bone enlargement, arthritis
Osteitis deformans (Paget disease of bone,osteoblastic and osteoclastic activity)
91
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
92
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
93
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
94
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
95
“Butterfly” facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
96
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
97
Anticentromere antibodies
Scleroderma (CREST)
98
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
99
Anti-desmoglein (anti-desmosome) antibodies
Pemphigus vulgaris (blistering)
100
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
101
^ AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (open neural tube defects)
102
Ataxia, nystagmus, vertigo, dysarthria
Cerebellar lesion
103
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
104
Hyperphagia, hypersexuality, hyperorality
Klüver-Bucy syndrome (bilateral amygdala lesion)
105
Resting tremor, athetosis, chorea
Basal ganglia lesion
106
Lucid interval after traumatic brain injury rupture)
Epidural hematoma (middle meningeal artery
107
“Worst headache of my life”
Subarachnoid hemorrhage
108
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
109
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
110
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
111
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
112
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic
gliomas
Neurofibromatosis type I
113
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge- Weber syndrome)
114
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
115
Bilateral vestibular schwannomas
Neurofibromatosis type 2
116
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
117
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
118
Spastic weakness, sensory loss, bowel/bladder dysfunction
Spinal cord lesion
119
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
120
Episodic vertigo, tinnitus, hearing loss
Ménière disease
121
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
122
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
123
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
124
Athlete with polycythemia
2° to erythropoietin injection
125
Periorbital and/or peripheral edema, proteinuria (> 3.5g/ day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
126
Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation
Alport syndrome (mutation in collagen IV)
127
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck,
lymphedema
Turner syndrome (45,XO)
128
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
129
Fibrous plaques in tunica albuginea of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
130
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)
131
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])
132
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
