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Rapid Review FA

Classic Presentations Page 5

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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