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Rapid Review FA
Classic Presentations Page 5
| Question | Answer |
|---|---|
| Toe extension/fanning 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) |
| “Worst headache of my life” | Subarachnoid hemorrhage |
| Resting tremor, rigidity, akinesia, postural instability, shuffling gait | Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta) |
| Chorea, dementia, caudate degeneration | Huntington disease (autosomal dominant CAG repeat expansion) |
| 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 polyradiculopathy subtype) |
| 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 SturgeWeber syndrome) |
| Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
| Bilateral vestibular schwannomas | Neurofibromatosis type 2 |
| Hyperreflexia, hypertonia, Babinski sign present | UMN damage |
| Hyporeflexia, hypotonia, atrophy, fasciculations | LMN damage |
| Spastic weakness, sensory loss, bowel/bladder dysfunction | Spinal cord lesion |
| Unilateral facial drooping involving forehead | LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead |
| Episodic vertigo, tinnitus, 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) |
| Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets | Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule) |
| Athlete with polycythemia | 2° to erythropoietin injection |
| 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 collagen IV) |
| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, 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) |
Created by:
peterapichardo
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