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Flashcards in Classic Presentations Deck (138):
1

Gout, intellectual disability, self-mutilating behavior in a boy

Lesch-Nyhan syndrome
HGPRT deficiency, x-linked recessive

2

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome
Dynein arm defect affecting cilia

3

Blue sclera

Osteogenesis imperfecta
Type I Collagen Defect

4

Elastic skin, hypermobility of joints, increased bleeding tendency

Ehlers-Danlos syndrome
(Type V collagen defect, type III collagen defect seen in vascular subtype of ED)

5

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

Marfan syndrome ("look UP at the ceiling FAN")
Fibrillin defect

6

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

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

Calf pseudohypertrophy

Muscular dystrophy
Most commonly Duchenne, due to x-linked recessive frameshift mutation of dystrophin gene

8

Child uses arms to stand up from squat

Duchenne muscular dystrophy
Gowers sign

9

Slow, progressive muscle weakness in boys

Becker muscular dystrophy
X-linked missense mutation in dystrophin; less severe than Duchenne

10

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

Patau syndrome
Trisomy 13

11

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

Edwards syndrome
Trisomy 18

12

Single palmar crease

Down syndrome

13

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

Wet beriberi (thiamine - vitamin B1 - deficiency)

14

Dermatitis, dementia, diarrhea

Pellagra (niacin - vitamin B3 - deficiency)

15

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Scurvy (vitamin C deficiency - can't hydroxylate proline/lysine for collagen synthesis)

16

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

McArdle disease

17

Infant with hypoglycemia, hepatomegaly

Cori disease

18

Myopathy, exercise intolerance

Pompe disease

19

Cherry-red spot on macula

Tay-Sachs or Niemann-Pick, central retinal artery occlusion

20

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

Gaucher disease

21

Achilles tendon xanthoma

Familial hypercholesterolemia
NOTE: AD

22

Anaphylaxis following blood transfusion

IgA deficiency

23

Male child, recurrent infections, no mature B cells

Bruton disease
(X-linked agammaglobulinemia)

24

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

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