RAPID REVIEW Flashcards
(169 cards)
1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyhan Syndrome (HGPRT deficiency, XR)
2
Q
Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility
A
Kartagener syndrome (dynein arm defect affecting cilia)
3
Q
Blue sclera
A
Osteogenesis Imperfecta (type 1 collagen defect)
4
Q
Elastic skin, hyper-mobility of joints, increased bleeding tendency
A
Ehlers-Danlos syndrome (Type 5 collagen defect, type 3 collagen defect seen in vascular subtype of ED)
5
Q
Arachnodactyly, lens dislocation (upward & temporal), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Arachnodactyly, pectus deformity, lens dislocation (downward)
A
Homocystinuria (AR)
7
Q
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia - leading to uneven growth, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (Gs- protein activating mutation)
8
Q
Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility
A
Cystic fibrous (CFTR gene defect, chromosome 7, Phe508 deletion)
9
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne, due to XR frame shift mutation of dystrophin gene)
10
Q
Child uses arms to stand up from squat
A
Duchenne muscular dystrophy (Gowers sign)
11
Q
Slow, progressive muscle weakness in boys
A
Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)
12
Q
Infant with cleft lip/palate, microcephalic or holoprosencephaly, polydactyly, cutis aplasia
A
Patau syndrome (trisomy 13)
13
Q
Infant with microcephalic, rocker-bottom feet, clenched hands, & structural heart defect
A
Edwards syndrome (trisomy 18)
14
Q
Single palmar crease
A
Down syndrome
15
Q
Confusion, ophthalmoplegia/nystagmus, ataxia
A
Wernicke encephalopathy
16
Q
Dilated cardiomyopathy/ high output heart failure, edema, alcoholism or malnutrition
A
Wet beriberi (thiamine/B1 deficiency)
17
Q
Burning feet syndrome
A
Vitamin B5 deficiency
18
Q
Dermatitis, dementia, diarrhea
A
Pellagra (niacin/B3 deficiency)
19
Q
Swollen gums, mucosal bleeding, poor wound healing, petechiae
A
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
- tea & toast diet
20
Q
Bowlegs in children, bone pain, & muscle weakness
A
Rickets (children), osteomalacia (adults); vitamin D deficiency
21
Q
Hemorrhagic disease of newborn with increased PT and PTT
A
Vitamin K deficiency
22
Q
Bluish-black connective tissue, ear cartilage, sclera; urine turns black on prolonged exposure to air
A
Alkaptonuria (Homogentisate oxidase deficiency; ochronosis)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
24
Q
Infant with hypoglycemia, hepatomegaly
A
Cori disease (debranching enzyme deficiency) OR Von Gierke disease (glucose 6 phosphatase deficiency - more severe)
25
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)
26
“Cherry red spots” on macula
Tay Sachs (ganglioside accumulation) OR Neimann Pick (sphingomyelin accumulation), central retinal artery occlusion
27
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase [beta-glucosidase] deficiency)
28
Achilles’ tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
29
Recurrent Neisseria infection
Terminal complement deficiencies (C5-C9)
30
Anaphylaxis following blood transfusion
IgA deficiency
31
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
32
Recurrent cold (non-inflammed) abscesses, eczema, high serum IgE, increased eosinophils
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
33
Late separation (>30 days) of umbilical cord, no pus, recurrent skin & mucosal bacterial infections
Leukocyte adhesion deficiency (type 1; defective LFA-1 integrin)
34
Recurrent infections and granulomas with catalase + organisms
Chronic granulomatous disease (defect of NAPDH oxidase)
35
Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon
Staphylococcal toxic shock syndrome
36
“Strawberry tongue”
Scarlet fever
| Kawasaki disease
37
Colon cancer diagnosed a few years after endocarditis
Streptococcus Bovis
38
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
39
Flaccid paralysis in newborn after ingestion of honey
Clostridium botulinum infection (floppy baby syndrome)
40
Tonsillar pseudomembrane with “bull’s neck” appearance
Corynebacterium diphtheria infection
41
Back pain, fever, night sweats
Pott disease (vertebral TB)
42
Adrenal insufficiency, fever, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
43
Red “currant jelly” sputum in patients with alcohol overuse or diabetes
Klebsiella pneumoniae pneumonia
44
Large rash with bull’s eye appearance
Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)
45
Ulcerated genital lesion
Nonpainful, indurated: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
46
Pupil accommodates but doesn’t react to light
Neurosyphilis (Argyll Robertson pupil)
47
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis)
48
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)
49
Dog or cat bite resulting in infection (cellulitis, osteomyelitis)
Pasteurella multocida (cellulitis at inoculation site)
50
Atypical “walking pneumonia” with x-ray looking worse than patient
Mycoplasma pneumoniae infection
51
Rash on palms and soles
Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever
52
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
53
Pruritus, serpiginous rash after walking barefoot
Hookworm (Ancylostoma spp, Necator americanus)
54
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
55
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
56
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
57
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
58
Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulses parvus et tardus
Aortic stenosis
59
Continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
60
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
61
Chest pain with ST depressions on ECG
Angina (neg. troponins) or NSTEMI (pos. Troponins)
62
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)
63
Distant heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
65
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ micro-abscesses)
66
Splinter hemorrhages in fingernails
Bacterial endocarditis
67
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
68
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
69
Polyuria (water diuresis), polydipsia
Primary polydipsia, diabetes insipidus (central, nephrogenic)
70
NO lactation postpartum, absent menstruation, cold intolerance
```
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
- can lead to central hypothyroidism
```
71
Heat intolerance, weight loss, palpitations
Hyperthyroidism
72
Cold intolerance, weight gain, brittle hair
Hypothyroidism
73
Cutaneous/ dermal edema due to deposition of mucopolysaccharides in connective tissue
Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])
74
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
75
Carpal spasm upon inflation of BP cuff
Trousseau sign (hypocalcemia)
76
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
77
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances
Chronic primary adrenal insufficiency (Addison disease) —> increased ACTH, increased alpha-MSH
78
Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue
Acute adrenal insufficiency (adrenal crisis)
79
Pancreatic, pituitary, parathyroid tumors
MEN 1 (AD MEN1 mutation)
80
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B (AD RET mutation)
81
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD RET mutation)
82
Cutaneous flushing, diarrhea, bronchospasm, heart murmur
Carcinoid syndrome (increased 5-HIAAA)
83
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
84
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)
85
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer Vinson syndrome (may progress to esophageal squamous cell carcinoma)
86
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
87
Hematemesis, melena
Upper GI bleeding (eg peptic ulcer disease)
88
Hematochezia
Lower GI bleeding (eg colonic diverticulosis)
89
Arthralgias adenopathy, cardiac and neurological symptoms, diarrhea
Whipple disease (tropheryma whipplei)
90
Severe RLQ pain with palpating of LLQ
Rovsing sign (acute appendicitis)
91
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
92
Hemartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
93
Multiple colon polyps, osteomalacia/ soft tissue tumors, impacted/ supernumerary teeth
Gardner syndrome (subtype of FAP)
94
Severe jaundice in neonate
Crigler- Najjar syndrome (congenital unconjugated hyperbilirubinemia)
95
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
96
Female, fat, fertile, forty
Cholelithiasis (gallstones)
97
Painless jaundice with enlarged gallbladder
Cancer of the pancreatic head obstructing bile duct
98
Bluish line on gingiva
Burton line (lead poisoning)
99
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)
100
Red/pink urine, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
101
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
102
Petechiae, mucosal bleeding, prolonged bleeding time
Platelet disorder (eg Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)
103
Fever, night sweats, weight loss
B symptoms of malignancy
104
Skin patches/plaques, Pautrier micro-abscesses, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
105
Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury)
106
Anterior drawer sign +
Anterior cruciate ligament injury
107
Bone pain, bone enlargement, arthritis
Osteitis deformans (Paget disease of the bone, increased osteoblast and osteoclasts activity)
108
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
109
Sudden swollen/painful big toe joint, tophi
Gout/ podagra (hyperuricemia)
110
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
111
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
112
“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female
Systemic lupus erythematosus
113
Cervical lymphadenopathy, desquamating rash,
| coronary aneurysms, red conjunctivae and tongue, & hand-foot changes
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
114
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Immunoglobulin A vasculitis (Henoch-Schonlein purpura, affects skin & kidneys)
115
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
116
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
117
Pruritic, purple, polyclonal planar papules & plaques (6 Ps)
Lichen planus
118
Ataxia, nystagmus, vertigo, dysarthria
Cerebellum lesion (lateral affects voluntary movement of extremities; medial affects axial & proximal movement)
119
Dorsiflexion of large toe with fanning of other toes upon plantar scrape
Babinski sign (UMN lesion)
120
Hyperphagia, hypersensitivity, hyperorality
Kluver- Bucy syndrome (bilateral amygdala lesion)
121
Resting tremor, athetosis, chorea
Basal ganglia lesion
122
Lucid interval after traumatic brain injury
Epidural hematoma (MMA rupture; branch of maxillary artery)
123
“Worst headache of my life”
Subarachnoid hemorrhage
124
Dysphagia, hoarseness, decreased gag reflex, nystagmus, ipsilateral Horner syndrome
Lateral medullary syndrome (posterior inferior cerebellar artery lesion)
125
Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia
Parkinson’s disease (loss of dopaminergic neurons in substantia nigra pars compacta)
126
Chorea, dementia, caudate degeneration
Huntington disease (AD CAG repeat expansion)
127
Urinary incontinence, gait apraxia, cognitive dysfunction
Normal pressure hydrocephalus
128
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplagia
Multiple sclerosis
129
Rapidly progressive limb weakness that ascends following GI/ upper respiratory infection
Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)
130
Cafe au lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
Neurofibromatosis type 1
131
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge- Weber syndrome)
132
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel Lindau disease (deletion of VHL gene on chromosome 3p)
133
Bilateral vestibular schwannomas
Neurofibromatosis type 2
134
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
135
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
136
Flaccid limb weakness, fasciculations, atrophy, bulbar palsy
UMN and LMN deficits
137
Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy
Friedreich ataxia
138
Unilateral facial drooping involving forehead
LMN facial nerve (CN 7) palsy
| UMN lesions spare the forehead
139
Episodic vertigo, tinnitus, sensorineural hearing loss
Meniere disease
140
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
141
Conjugate horizontal gaze palsy, horizontal diploma
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
142
“Waxing and waning” level of consciousness (acute onset), decreased attention span, decreased level of arousal
Delirium (usually secondary to other cause)
143
Polyuria, renal tubular acidosis type 2, growth retardation, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
144
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
145
Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation
Alport syndrome (mutation in type 4 collagen)
146
Wilms tumor, macroglossia, organomegaly, hemihyperplasia, omphalocele
Beckwith- Wiedemann syndrome (WT2 mutation)
147
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
148
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
149
Ovarian fibroma, ascites, pleural effusion
Meigs syndrome
150
Fibrous plaques in tunica albuginea of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
151
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hypertrophy and hyperplasia of the mucous cells, “blue bloater”)
152
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [alpha-1 antitrypsin deficiency)
153
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
154
Cholangiocarcinoma
| Pancreatic adenocarcinoma
RAS (GTP binding protein)
155
Burkitt Lymphoma
MYC (transcription factor)
156
Lung adenocarcinoma
ERBB1 (EGFR) - (receptor tyrosine kinase)
157
Breast cancer
ERBB2 (HER2) - (receptor tyrosine kinase)
158
Chronic myelogenous leukemia
ABL (nonreceptor tyrosine kinase)
159
Hairy cell leukemia
| Melanoma
BRAF (Ras signal transduction)
160
Breast & ovarian cancer
BRCA 1/2 (DNA repair genes)
161
Colon, gastric, & pancreatic cancer
| Familial adenomatous polyposis
APC/ Beta catenin (Wnt signaling pathway)
162
Most cancers
| Li Fraumeni syndrome
TP53 (genomic stability)
163
Retinoblastoma
| Osteosarcoma
RB (G1/S transition inhibitor)
164
Wilms tumor
WT1 (Urogenital differentiation)
165
Renal cell carcinoma
| Von Hippel Lindau syndrome
VHL (ubiquitin ligase component)
166
Consolidation
Increased breath sounds
Increased fremitus
Dullness to percussion
167
Pleural effusion
Decreased or absent breath sounds
Decreased tactile fremitus
Dullness to percussion
168
Pneumothorax
Decreased or absent breath sounds
Decreased tactile fremitus
Hyper resonance to percussion
169
Atelectasis
Decreased or absent breath sounds
Decreased tactile fremitus
Dullness to percussion
