Ch 27 - Peripheral Nerves Flashcards
Neurofibromatosis type 1 or 2 - chromosome 22q (Merlin’s) loss of tumor suppressor
Type 2
Peripheral neuropathy that presents with onion bulls (excessive proliferation of Schwann cells wrapping around an axon leading it to look like layers of an onion)
Chronic inflammatory demyelinating poly(radiculo)neuropathy
Group of syndromes characterized by:
Myoclonic epilepsy with ragged red fibers
Leber hereditary optic neuropathy (LHON)
Mitochondrial myopathies
Scaling erythematous eruption or dusky red patches over the knuckles, elbows, and knees
What systemic autoimmune disease is this seen in?
Gottron papules
Dermatomyositis
Most common muscular dystrophy with early onset
Duchenne muscular dystrophy
What is POEMS syndrome, and what neuropathy associated with malignancy is it associated with?
Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes
Monoclonal Gammopathy
Most common acquired inflammatory peripheral neuropathy
Chronic inflammatory demyelinating poly(radiculo)neuropathy
What rate the X-linked muscular dystrophies?
Duchenne and Becker muscular dystrophy
Most common Inflammatory myopathy in children
Dermatomyositis - juvenile type
Ion channel myopathy (channelopathy) mutation that is the most common cause of hypokalemia paralysis
Which ion channel is it a mutation of?
CACNA1S mutation
Calcium channel
Toxic myopathies are slowly progress muscle weaknesses due to drugs What is the key class of drug?
Statins, regardless of dose or subtype
Virus that causes painful, vascular skin eruption (shingles)in a sensory dermatomal pattern
Varicella Zoster
Schwannomas are benign tumors with Schwann cell differentiation that arise directly form peripheral nerves
What protein are they positive for?
S-100 (+)
Neurofibromatosis type 1 or 2 - cafe-au-lait spots (macular cutaneous hyperpigmentation)
Type 1
Most common inherited peripheral neuropathy (> 50 different mutations)
Charcot-Marie-Tooth (CMT) disease
The “bag of worms” appearance describes a ropy thickening of multiple fascicles seen in what tumor?
Plexiform neurofibroma
diffuse neurofibromas has a plaque-like appearance
Most common inflammatory myopathy in patients > 65
Inclusion body myositis
Which muscular dystrophy has an absence of normal sarcolemmal immunohistochemical staining pattern
Duchenne muscular dystrophy
Nuclear free zones between pallisading nuclei
What tumor are these seen in?
Verocay bodies
Schwannoma
RYR1 mutation (ryanodine receptor) ion channel myopathy is associated with malignant hyperthermia (hypermetabolic state (tachycardia, tetany, late hyperpyrexia) triggered by anesthetics) What is the treatment?
Dantrolene
Triad of slowly progressive humeroperoneal weakness, cardiomyopathy (conduction defects), and early contracture of Achilles’ tendon, spine, and elbows seen in ______
Emery-Dreifuss muscular dystrophy (EMD)
Which muscular dystrophy has reduced immunohistochemical staining
Becker
Most common cause of non-traumatic limb amputations in the US
Diabetes mellitus
Increased serum CK (in first decade of life, falls as disease progresses and muscle mass is lost) helps in diagnosing what disease?
X-linked muscular dytrophy
Most common cause of peripheral neuropathy
Diabetes mellitus
Neurofibromatosis type 1 or 2 - bilateral CNVIII schwannomas
Type 2
