Classic Presentations Flashcards
(168 cards)
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, increased 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), aortic dissection, hyperflexible joints
A
Marfan syndrome ("look UP at the ceiling FAN")
Fibrillin defect
6
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalitie
A
McCune-Albright syndrome
Mosaic G-protein signaling mutation
NOTE: lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism
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 missense mutation 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
17
Q
Infant with hypoglycemia, hepatomegaly
A
Cori disease
18
Q
Myopathy, exercise intolerance
A
Pompe disease
19
Q
Cherry-red spot on macula
A
Tay-Sachs or Niemann-Pick, central retinal artery occlusion
20
Q
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
A
Gaucher disease
21
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
NOTE: AD
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, unusual eczema, high serum IgE
A
Hyper-IgE syndrom
25
Strawberry tongue
Scarlet fever
| Kawasaki disease
26
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
27
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae PNA
28
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme)
29
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, treponema pallidum)
| Painful with exudate: chancroid (H. ducreyi)
30
Pupil accommodates but doesn't react
Neurosyphilis
| Argyll Robertson pupil
31
Smooth, moist, painless, wart-like white lesions 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
Pasteurella multocida
34
Rash on palms and soles
Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever
35
Black eschar on face of patient with DKA
Mucor or rhizopus fungal infection
36
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
37
Fever, cough, conjunctivitis, croyza, diffuse rash
Measles
38
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots
| Measles/rubeola virus
39
Back pain, fever, night sweats
Pott disease
| vertebral TB
40
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease ("slapped cheeks" apperance, caused by parvovirus B19)
41
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C diff infection
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
45
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
46
Chest pain with ST depressions on EKG
Angina or NSTEMI
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
(c/w 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 changes
Kawasaki disease
| treat with IVIG and ASA
54
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
55
Telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematura
Hereditary hemorrhagic telengiectasia
(Osler-Weber-Rendu syndrome)
NOTE: AD
56
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (eg: Addison disease cuasing increase in ACTH and a-MSH production)
57
Cold intolerance
Hypothyroidism
58
Cutaneous/dermal edema due to deposition of mucoplysaccharides in connective tissue
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
59
Facial muscle spams 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
DKA
| Kussmaul respirations
62
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
| right-sided cardiac valvular lesions, increase in 5-HIAA
63
Pancreatic, pituitary, parathyroid tumors
MEN 1
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
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
68
Hematemesis 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 met)
71
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple diesae (T 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, hyperpigmentation 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-Chiari syndrome (posthepatic venous thrombosis)
77
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
78
Golden brown rings around peripheral cornea
Wilson disease
| Kayser-Fleischer rings due to coper accumulation
79
Fat, female, forty, fertile, familial
Cholelithiasis
| gallstones
80
Short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia
| genetic loss of DNA crosslink repair, often progresses to AML
81
Red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
82
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
| autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL
83
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
84
Fever, night sweats, weight loss
B symptoms of lymphoma
85
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungiodes (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides and malignant T cells in blood)
86
WBCs that look "smudged"
CLL
87
Athlete with polycythemia
secondary to erythropoietin injection
88
Neonate with arm paralysis following difficult birth, arm in "waiter's tip" position
Erb-Duchenne palsy (C5-C6) - brachial plexus injury
89
Anterior "drawer sign" +
ACL tear
90
Bone pain, bone enlargement, arthritis
Paget Disease of bone (increased 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, tophi
Gout/podagra (hyperuricemia)
93
Dry eyes, dry mouth, arthritis
Sjogren 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
Reynaud 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
Lichen planus
101
Increased AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (open neural tube defect)
102
Toe extension/fanning upon plantar scrape
Babinski sign (upper motor neuron lesion)
103
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
104
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
105
"Worst headache of my life"
Subarachnoid hemorrhage
106
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
107
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
108
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
109
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
110
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I
| NOTE: AD
111
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
112
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Landau disease (autosomal dominant tumor suppressor gene mutation)
113
Bilateral acoustic schwannomas
Neurofibromatosis type II
| NOTE: AD
114
Hyperreflexia, hypertonia, Babinski sign present
Upper motor neuron damage
115
Hyporeflexia, hypotonia, atrophy, fasciculations
Lower motor neuron damage
116
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
117
Episodic vertigo, tinnitus, hearing loss
Meniere disease
118
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
119
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
120
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
121
Bluish line on gingiva
Burton line (lead poisoning)
122
Periorbital and/or peripheral edema, proteinuria (>3.5 g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
123
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in Collagen IV)
124
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphadema
Turner Syndrome (45, XO)
125
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
126
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
127
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, "blue bloater")
128
Pink complexion, dyspnea, hyperventilation
Emphysema ("pink puffer," centriacinar [smoking] or panacinar [alpha1 antitrypsin deficiency])
129
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
130
Dry skin, extreme light sensitivity, skin cancer
| Include pathogenesis in answer
Xeroderma pigmentosum
| 2/2 inability to repair DNA pyrimidine dimers caused by UV exposure (mutated nucleotide excision repair)
131
Coarse facial features, gingival hyperplasia, clouded corneas, restricted joint movements, claw hand deformities, kyphoscoliosis, high plasma levels of lysosomal enzymes
(include pathogenesis in answer)
I-Cell Disease
Defect in N-acetylglucosaminyl-1-phosphotransferase, leading to failure of the Golgi to phophorylate mannose residues on glycoproteins (decrease mannose6P). Therefore proteins are secreted extracellularly rather than delivered to lysosomes
132
Adrenal gland crisis, coma, death
| include pathogenesis in answer
Adrenoleukodystrophy
X-linked recessive disorder of beta-oxidation leading to VLCFA buildup in adrenal glands, white (leuko) matter of brain, testes
Disease is progressive
133
Brittle, "kinky" hair, growth retardation, hypotonia
| Include pathogenesis in answer
Menkes disease
X-linked recessive connective tissue disease caused by impaired copper absorption and transport due to defective Menkes protein (ATP7A). Leads to decreased activity of lysyl oxidase (copper is a necessary cofactor), which produces defective collagen.
134
Myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
Myotonic dystrophy type 1
Autosomal dominant with CTG ("cataracts, toupee, gonadal atrophy") trinucleotide repeat expansion in the DMPK gene
This repeat leads to abnormal expression of myotonin protein kinase
135
Regression in motor, verbal, and cognitive abilities
| Seizures, growth failure, ataxia, stereotyped hand-wringing
Rett syndrome
Almost exclusively in girls
Most cases are caused by de novo mutation of MECP2 on X chromosome
136
Thymic aplasia (T cell deficiency), parathyroid defects, cardiac defects
DiGeorge Syndrome
Microdeletion at 22q11
Due to aberrant development of 3rd and 4th branchial (pharyngeal) pouches
137
Cleft palate, abnormal facies, cardiac defects
Velocardiofacial syndrome
Microdeletion at 22q11
Due to aberrant development of 3rd and 4th branchial (pharyngeal) pouches
138
Pellagra-like symptoms (diarrhea, dementia, dermatitis)
Hartnup Disease
AR
Deficiency of neutral amino acid (eg tryptophan) transporters in proximal renal tubular cells and on enterocytes, leading to neutral aminoaciduria and decreased absorption from the gut. This causes decreased tryptophan for conversion to niacin
Treat with high-protein diet and nicotinic acid
139
Friction rub
Pericarditis
140
Kussmaul breathing
Diabetic ketoacidosis
141
Bitot spots
Vitamin A deficiency
142
Dendritic corneal ulcers on fluorescein stain of the eye
Herpes keratitis
143
Cherry-red spot on the macula with hepatosplenomegaly
Niemann-Pick disease
144
Bronze skin and diabetes
Hemochromatosis
145
Heliotrope rash (purplish rash on eyelids)
Dermatomyositis
146
Clue cells
Gardnerella vaginalis infection
147
Meconium ileus
Cystic fibrosis
148
Rectal prolapse in infant
Cystic fibrosis
149
Cafe-au-lait spot with normal IQ
neurofibromatosis
150
Cafe-au-lait spot with mental retardation
McCune-Albright syndrome or tuberous sclerosis
151
Left lower quadrant tenderness/rebound
Diverticulitis
152
Children who torture animals
Conduct disorder
153
Currant jelly stool in children
Intussusception
154
Ambiguous genitalia and hypotension
21-hydroxylase deficiency
155
Postpartum fever unresponsive to broad-spectrum antibiotics
Septic pelvic thrombophlebitis
156
Increased hemoglobin A2 and anemia
thalassemia
157
Bilateral hilar adenopathy (particularly in a black patient)
Sarcoidosis
158
Koilocytosis
HPV or cytomegalovirus
159
Beck's Triad
JVD, muffled heart sounds, hypotensionn
| = cardiac tamponade
160
Charcot triad
Fever/chills, jaundice, RUQ pain
| = cholangitis
161
Courvoisier sign
Painless, palpable gallbladder + jaundice
| = pancreatic cancer
162
Cullen sign
Bluish discoloration of periumbilical area
| = pancreatitis with retroperitoneal hemorrhage
163
Cushing reflex
Hypertension, bradycardia, and irregular respirations
| = high intracranial pressure
164
Grey Turner sign
Bluish discoloration of flank
| = pancreatitis with retroperitoneal hemorrhage
165
Kehr sign
Pain in left shoulder
| = ruptured spleen
166
Claudication and atrophy of butt with impotence
Leriche syndrome (aka aortoiliac occlusive disease)
167
Elevation of testicle relieves pain
Prehn sign
| used in epidydimitis vs. torsion
168
Pumping up blood pressure cuff causes carpopedal spasm
Trousseau sign = hypocalcemia
