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Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Gout, intellectual disability, self mutilating behavior in a boy

A

Lesch-Nyhan Syndrome (HGPRT deficiency, X-linked recessive)

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2
Q

Situs inversus, chronic ear infections, sinusitus, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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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)

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5
Q

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Arachnodactyly, pectus deformity, lens dislocation (downward)

A

Homocystinuria (autosomal recessive)

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7
Q

Cafe- au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (Gs-protein activating mutation)

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8
Q

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility

A

Cystic Fibrosis (CFTR gene defect, chromosome 7, Phe 508 deletion)

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9
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive framseshift mutation of dystrophin gene)

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10
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers signs)

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11
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (x-linked non frameshift deletions in dystrophin; less severe than Duchenne)

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12
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau Syndrome (trisomy 13)

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13
Q

Infant with microcephaly, rocker bottom feet, clenched hands and structural heart defect.

A

Edward Syndrome (trisomy 18)

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14
Q

Single palmar crease

A

Down Syndrome

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15
Q

Confusion, ophthalmoplegia/nystagmus, ataxia

A

Wernicke encephalopathy

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16
Q

Dilated cardiomyopathy/high output heart failure, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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17
Q

Burning feet syndrome

A

Vitamin B5 deficiency

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18
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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19
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis); tea and toast diet

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20
Q

Bowlegs in children, bone pain and muscle weakness

A

Rickets (children), osteomalacia (adults), vitamin D deficiency

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21
Q

Hemorrhagic disease of newborns with increase PT, increase PTT

A

Vitamin K deficiency

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22
Q

Bluish black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air

A

Alkaptonuria (homogentisate oxidase deficiency; ochronosis)

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23
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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24
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)

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25
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha-1, 4-glucosidase deficiency)

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26
Q

Cherry red spots on macula

A

Tay-sachs (ganglioside accumulation) or Niemann pick (sphingomyelin accumulation), central retinal artery occlusion

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27
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase [B-glucosidase] eficiency)

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28
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia ( v LDL receptor signaling)

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29
Q

Recurrent Neisseria infection

A

Terminal complement deficiencies (C5-C9)

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30
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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31
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-liked agammaglobulinemia)

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32
Q

Recurrent cold (noninflamed) abscess, eczema, high serum IgE, ^ eosinophils

A

Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

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33
Q

Late separation )>30 days)of umbilical cord, no pus, recurrent skin and mucosal bacterial infections

A

Leukocyte adhesion deficiency (type 1, defective LFA-1 integrin)

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34
Q

Recurrent infections and granulomas with catalase + organisms

A

Chronic granulomatous disease (defect of NAPDH oxidase)

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35
Q

Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampons

A

Staphylococcal toxic shock syndrome

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36
Q

Strawberry tongue

A

Scarlet fever

Kawasaki disease

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37
Q

Colon cancer diagnosed a few years after endocarditis

A

Streptococcus bovis

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38
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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39
Q

Flaccid paralysis on newborn after ingestion of honey

A

Clostrodium botulinum infection (floppy baby syndrome)

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40
Q

Tonsillar pseudomembrane with bulls neck appearance

A

Corynebacterium diphtheria infection

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41
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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42
Q

Adrenal insufficiency, fever, DIC

A

Waterhouse - Friederichsen syndrome (meningococcemia)

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43
Q

Red “currant jelly” sputum in patients with alcohol overuse or diabetes

A

Klebsiella pneumoniae pneumonia

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44
Q

:arge rash with bull’s eye appearance

A

Erythema migrans from Ixodes tick bite (lyme disease: Borrelia)

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45
Q

Ulcerated genital lesion

A

Nonpainful, indurated: chancre (1º syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

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46
Q

Pupil accommodates but doesn’t react to light

A

Neurosyphilis (Argyll Robertson pupil)

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47
Q

Smooth, moist, painless, wart-like white lessions on genitals

A

Condylomata lata (2º syphilis)

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48
Q

Fver, chills, headache, myalgia following antibiotic treatment for syphilis.

A

Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)

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49
Q

Dog or cat bite resulting in ifection (cellulitis, osteomyelitis)

A

Pasteurella multocida (cellulitis at inoculation site)

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50
Q

Atypical “walking pneumonia” with x-ray looking worse that the patient

A

Mycoplasma pneumoniae infection

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51
Q

Rash on palms and soles

A

Coxsackie A, 2º syphilis, Rocky Mountain spotted fever

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52
Q

Black Eschar on face of patient with diabetic ketoacidosis and/or neutropenia

A

Mucor or Rhizopus fungal infection

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53
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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54
Q

Pruritus, serpiginous rash after walking barefoot

A

Hookworm (ancylostoma spp, Necator americans)

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55
Q

Child with fever later develops red rash on face that spreads to body

A

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

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56
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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57
Q

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles [rubeola] virus)

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58
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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59
Q

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus

A

Aortic Stenosis

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60
Q

Continuous machine like heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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61
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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62
Q

Chest pain with ST depression on ECG

A

Angina (- troponins) or NSTEMI (+ troponins)

63
Q

Chest pain, pericardial effusion/friction rub, persistent fever following MI

A

Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis, 2 weeks to several months after acute episode.

64
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

65
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

66
Q

Painles erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

67
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

68
Q

Retinal hemorrhage with pale centers

A

Roth spots (bacterial endocarditis)

69
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome)

70
Q

Polyuria (water diuresis), polydipsia

A

Primary polydispsia, diabetes insipidus (central nephrogenic)

71
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

72
Q

Heat intolerance, weight loss, palpitations

A

Hyperthyroidism

73
Q

Cold intolerance, weight gain, brittle hair

A

Hyporthyroidism

74
Q

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

75
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

76
Q

Carpal spasm upon inflation of BP cuff

A

Trousseau sign (hypocalcemia)

77
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

78
Q

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

A

Chronic 1º adrenal insufficiency (Addison disease) -> ^ACTH, ^ alpha MSH

79
Q

Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue

A

Acute adrenal insufficiency (adrenal crisis)

80
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant MEN 1 mutation)

81
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (autosomal dominant RET mutation)

82
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

83
Q

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

A

Carcinoid Syndrome (^ 5-HIAA)

84
Q

Jaundice, palpable distended non tender-gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

85
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory Weiss syndrome (alcohol use disorder, bulimina nervosa)

86
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer Vinson Syndrome (may progress to esophageal squamous cell carcinoma)

87
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

88
Q

Hematemesis, melena

A

Upper GI bleeding (eg peptic ulcer disease)

89
Q

Hematochezia

A

Lower GI bleeding (eg colonic diverticulosis)

90
Q

Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea

A

Whipple disease (tropheryma whipplei)

91
Q

Severe RLQ pain with pslpstion of LLQ

A

Rovsing sign (acute appendicitis)

92
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

93
Q

Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ^ cancer risk, mainly GI

94
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner Syndrome (subtype of FAP)

95
Q

Severe jaundice in neonate

A

Crigler-Najjar Syndrome (congenital unconjugated hyperbilirubinemia)

96
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

97
Q

Female, fat, fertile, forty

A

Cholelithiasis (gallstones)

98
Q

Painless jaundice with enlarged gallbladder

A

Cancer of the pancreatic head obstructing bile duct

99
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

100
Q

Short stature, café au lait spots, thumb/radial defects, ^ incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

101
Q

Red/pink urine, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

102
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

103
Q

Petechiae, mucosal bleeding, prolonged bleeding time

A

Platelet disorders (eg Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)

104
Q

Fever, night sweats, weight loss

A

B symptoms of malignancy

105
Q

Skin patches/plaques, Pautrier microabscesses, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

106
Q

Neonate with arm paralysis following difficult birth, arm in waiter’s tip position

A

Erb - Duchenne Palsy (superior trunk [C5-C6] brachial plexus injury)

107
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

108
Q

Bone pain, bone enlargement, arthritis

A

Osteitis deformans (Paget disease of bone, ^ osteoblastic and osteoclastic activity)

109
Q

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

110
Q

Sudden swollen /painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

111
Q

Dry eyes, dry mouth, arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

112
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

113
Q

Butterfly facial rash, arthritis, cytopenia and fever in a young female

A

SLE

114
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjuctivae and tongue, hand foot changes

A

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

115
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)

116
Q

Painful fingers/toes changing color from white to blue to red with coldor stress

A

Raynaud phenomenon (vasospasm in extremities)

117
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

118
Q

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

119
Q

Ataxia, nystagmus, vertigo, dysarthria

A

Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement)

120
Q

Dorsiflexion of large toe with fanning of others toes upon plantar escape

A

Babinski sign (UMN lesion)

121
Q

Hyperphagia, hypersexuality, hyperorality

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

122
Q

Resting tremor, athetosis, chorea

A

Basal ganglia lesion

123
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)

124
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

125
Q

Dysphagia, hoarseness, v gag reflex, nystagmus, ipsilateral Horner Syndrome

A

Lateral medullary syndrome (posterior inferior cerebellar artery lesion)

126
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia

A

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

127
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

128
Q

Urinary incontinence, gait apraxia, cognitive dysfunction

A

Normal pressure hydrocephalus

129
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

130
Q

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)

131
Q

Café-au-lait spots, Lisch nodules (iris hermatoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type I

132
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associates with Sturge-Weber syndrome)

133
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (deletion of VHL gene on chromosome 3p)

134
Q

Bilateral vestibular schwannomas

A

Neurofibromatosis type 2

135
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

136
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

137
Q

Flaccid limb weakness, fasciculations, atrophy, bulbar palsy

A

UMN and LMN deficits

138
Q

Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy

A

Friedreich ataxia

139
Q

Unilateral facial dropping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

140
Q

Episodic vertigo, tinnitus, sensorineural hearing loss

A

Méniere disease

141
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

142
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilteral or bilateral)

143
Q

“Waxing and waning” level of consciousness (acute onset), v attention span, v level of arousal

A

Delirium (usually 2º to other cause)

144
Q

Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi Syndrome (multiple combined dysfunction of the proximal convoluted tubule)

145
Q

Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic Syndrome

146
Q

Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation

A

Alport Syndrome (mutation in type IV collagen)

147
Q

Wilms tumor, macroglossia, organomegaly, hemihyperplasia, omphalocele

A

Beckwith-Wiedemann syndrome (WT2 mutation)

148
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

A

Turner Syndrome (45, XO)

149
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

150
Q

Ovarian fibroma, ascites, pleural effusion

A

Meigs Syndrome

151
Q

Fibrous plaques in tunica albuginea of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

152
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hypertrophy and hyperplasia of mucous cells, “blue bloater”)

153
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [alpha 1 - antitrypsin deficiency])

154
Q

Bilateral hilar adenopathy, uveitis

A

Saarcoidosis (non caseating granulomas)

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