Classic Presentations part 5 Flashcards
Neonate with arm paralysis following difficult birth, arm
in “waiter’s tip” position
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)
Anterior drawer sign ⊕
Anterior cruciate ligament injury
Bone pain, bone enlargement, arthritis
Osteitis deformans (Paget disease of bone, osteoblastic and osteoclastic activity)
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP
[Heberden nodes])
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female
Systemic lupus erythematosus
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Most common in Asian children
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)
Painful fingers/toes changing color from white to blue to
red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Pruritic, purple, polygonal planar papules and plaques
6 P’s
Lichen planus
Ataxia, nystagmus, vertigo, dysarthria
Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement)
Dorsiflexion of large toe with fanning of other toes upon
plantar scrape
Babinski sign (UMN lesion)
Hyperphagia, hypersexuality, hyperorality
Klüver-Bucy syndrome (bilateral amygdala lesion)
Resting tremor, athetosis, chorea
Basal ganglia lesion
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)
“Worst headache of my life”
Subarachnoid hemorrhage
Dysphagia, hoarseness, gag reflex, nystagmus, ipsilateral Horner syndrome
Lateral medullary syndrome (posterior inferior cerebellar
artery lesion)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Urinary incontinence, gait apraxia, cognitive dysfunction
Normal pressure hydrocephalus
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Rapidly progressive limb weakness that ascends following
GI/upper respiratory infection
Guillain-Barré syndrome (acute inflammatory
demyelinating polyneuropathy)
Café-au-lait spots, Lisch nodules (iris hamartoma),
cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
Renal cell carcinoma (bilateral), hemangioblastomas,
angiomatosis, pheochromocytoma
von Hippel-Lindau disease (deletion of VHL gene on
chromosome 3p)
Bilateral vestibular schwannomas
Neurofibromatosis type 2
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Flaccid limb weakness, fasciculations, atrophy, bulbar palsy
UMN and LMN deficits
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy
Friedreich ataxia
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
Episodic vertigo, tinnitus, sensorineural hearing loss
Ménière disease
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
“Waxing and waning” level of consciousness (acute onset), decreased attention span, decreased level of arousal
Delirium (usually 2° to other cause)
Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Periorbital and/or peripheral edema, proteinuria (> 3.5g/
day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation
Alport syndrome (mutation in type IV collagen)
Wilms tumor, macroglossia, organomegaly,
hemihyperplasia, omphalocele
Beckwith-Wiedemann syndrome (WT2 mutation)
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Ovarian fibroma, ascites, pleural effusion
Meigs syndrome
Fibrous plaques in tunica albuginea of penis with
abnormal curvature
Peyronie disease (connective tissue disorder)
Fibrous plaques in tunica albuginea of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hypertrophy and hyperplasia of mucous cells, “blue bloater”)
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
