Classic Presentations part 5

Question 1

Neonate with arm paralysis following difficult birth, arm

in “waiter’s tip” position

Answer 1

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

Question 2

Anterior drawer sign ⊕

Answer 2

Anterior cruciate ligament injury

Question 3

Bone pain, bone enlargement, arthritis

Answer 3

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

Question 4

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

Answer 4

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP

[Heberden nodes])

Question 5

Sudden swollen/painful big toe joint, tophi

Answer 5

Gout/podagra (hyperuricemia)

Question 6

Dry eyes, dry mouth, arthritis

Answer 6

Sjögren syndrome (autoimmune destruction of exocrine glands)

Question 7

Urethritis, conjunctivitis, arthritis in a male

Answer 7

Reactive arthritis associated with HLA-B27

Question 8

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

Answer 8

Systemic lupus erythematosus

Question 9

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Most common in Asian children

Answer 9

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

Question 10

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

Answer 10

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

Question 11

Painful fingers/toes changing color from white to blue to

red with cold or stress

Answer 11

Raynaud phenomenon (vasospasm in extremities)

Question 12

Dark purple skin/mouth nodules in a patient with AIDS

Answer 12

Kaposi sarcoma, associated with HHV-8

Question 13

Pruritic, purple, polygonal planar papules and plaques

6 P’s

Answer 13

Lichen planus

Question 14

Ataxia, nystagmus, vertigo, dysarthria

Answer 14

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

Question 15

Dorsiflexion of large toe with fanning of other toes upon

plantar scrape

Answer 15

Babinski sign (UMN lesion)

Question 16

Hyperphagia, hypersexuality, hyperorality

Answer 16

Klüver-Bucy syndrome (bilateral amygdala lesion)

Question 17

Resting tremor, athetosis, chorea

Answer 17

Basal ganglia lesion

Question 18

Lucid interval after traumatic brain injury

Answer 18

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

Question 19

“Worst headache of my life”

Answer 19

Subarachnoid hemorrhage

Question 20

Dysphagia, hoarseness, gag reflex, nystagmus, ipsilateral Horner syndrome

Answer 20

Lateral medullary syndrome (posterior inferior cerebellar

artery lesion)

Question 21

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

Answer 21

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

Question 22

Chorea, dementia, caudate degeneration

Answer 22

Huntington disease (autosomal dominant CAG repeat expansion)

Question 23

Urinary incontinence, gait apraxia, cognitive dysfunction

Answer 23

Normal pressure hydrocephalus

Question 24

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 24

Multiple sclerosis

Question 25

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

Answer 25

Guillain-Barré syndrome (acute inflammatory | demyelinating polyneuropathy)

Question 26

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

Answer 26

Neurofibromatosis type I

Question 27

Vascular birthmark (port-wine stain) of the face

Answer 27

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

Question 28

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

Answer 28

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

Question 29

Bilateral vestibular schwannomas

Answer 29

Neurofibromatosis type 2

Question 30

Hyperreflexia, hypertonia, Babinski sign present

Answer 30

UMN damage

Question 31

Flaccid limb weakness, fasciculations, atrophy, bulbar palsy

Answer 31

UMN and LMN deficits

Question 32

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 32

LMN damage

Question 33

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

Answer 33

Friedreich ataxia

Question 34

Unilateral facial drooping involving forehead

Answer 34

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

Question 35

Episodic vertigo, tinnitus, sensorineural hearing loss

Answer 35

Ménière disease

Question 36

Ptosis, miosis, anhidrosis

Answer 36

Horner syndrome (sympathetic chain lesion)

Question 37

Conjugate horizontal gaze palsy, horizontal diplopia

Answer 37

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

Question 38

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

Answer 38

Delirium (usually 2° to other cause)

Question 39

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

Answer 39

``` Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule) ```

Question 40

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

Answer 40

Nephrotic syndrome

Question 41

Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation

Answer 41

Alport syndrome (mutation in type IV collagen)

Question 42

Wilms tumor, macroglossia, organomegaly, | hemihyperplasia, omphalocele

Answer 42

Beckwith-Wiedemann syndrome (WT2 mutation)

Question 43

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

Answer 43

Turner syndrome (45,XO)

Question 44

Red, itchy, swollen rash of nipple/areola

Answer 44

Paget disease of the breast (sign of underlying neoplasm)

Question 45

Ovarian fibroma, ascites, pleural effusion

Answer 45

Meigs syndrome

Question 46

Fibrous plaques in tunica albuginea of penis with | abnormal curvature

Answer 46

Peyronie disease (connective tissue disorder)

Question 47

Fibrous plaques in tunica albuginea of penis with abnormal curvature

Answer 47

Peyronie disease (connective tissue disorder)

Question 48

Hypoxemia, polycythemia, hypercapnia

Answer 48

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

Question 49

Pink complexion, dyspnea, hyperventilation

Answer 49

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])

Question 50

Bilateral hilar adenopathy, uveitis

Answer 50

Sarcoidosis (noncaseating granulomas)