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Peripheral neuropathy

chronic inflammatory demyelinating neuropathy, CIPD: 1. most common


acquired; 2. SX - ascending, symmetrical, sensorimotor loss,
relapsing/remitting, lasting 2 months+; 3. Tx - immunosuppression
(glucocorticoids) IV-IgG, plasmapheresis, anti T/Bcell therapy; 4. distinugish
from GBS bc CIPD responds to steroids.; 5. ETI - Ab against schwann cell
myelin, IgG/IgM - recruitment of macrophages; 6. INX - sural nerve biopsie
(recrrent demyleination/remyelianation, excessive proliferation schwann cells
"onion bulb structures of schwann cells wrapping around axon"

What would happen to denervated muscle? :denervation atrophy followed by


type grouping with re-enervation; subsequent reinjury would lead to group
atrophy.
Name an acute neuropathy with ascending paralysis:Guillain-Barr syndrome
is an acute inflammatory neuropathy that often follows an influenza-like
infection.
Peripheral neuropathy associated with inflammation: GBS, CIDP, systemic AID
(RA, SLE, sjogren), vasculitis
Neuropathy associated with vasculitis: 1. ETI - caused by occluded vessels
(vascular deposition of IgA or cryoproteins forming immune complexes) multiple infarcts in peripheral nerves - causing mono-neuritis multiplex
(medical emergency) ; 2. INX - patchy axonal degeneration, perivascular
inflammatory infiltrates; 3. SX (vasculitis) - palpable purpura, veciles, chronic
urticaria, ulcers
peripheral nerve with vacuoles - why ?: wallerian degeneration. The vacuoles
are filled with axonal and myelin fragments

A 6-year-old boy with progressive diffuse weakness can no longer rise from a
sitting position unassisted. On examination, his calves are prominent. His
serum creatine kinase level is 2270 U/L (nl <235 U/L). The microscopic
appearance of his gastrocnemius biopsy specimen is shown. Diagnosis ?
inheritance pattern ? complications??: Duchenne muscular dystrophy; absent
dystrophin; x linked; complication - muscle + inflammation + replacement by
fat and fibrous CT. Death (occurs by 20 yo) from progressive muscular
weakness affecting diaphragn/myocardium
Dystrophin: intracellular protein linking sarcomeric contraction to the
extracellular matrix
Muscular dystrophies: do not present in childhood (except congenital);
Duchenne and Becker muscular dystrophy: X-linked mutation in dystrophin
gene; (becker is later eg 20 yo, onset then duchenne eg 6 yo) ; Pathogen dystrophin (amino end) links cytoskeleton inside the myofiber (actin) with the
basement membrane (carboxy end to the transmembrane protein) outside
the cell; defects cause membrane tears = calcium influx = myofiber
degeneration; Duchenne = complete absence of dystrophin; Becker is
reduced amount; INVX show myophagocytosis, muscular deg/renewal,
replacement with collagen and fatty tissue, muscle fires have variation ins
ize, in immunihistochemical staining - there will not be the brown coloured
dystrophin around the edge of the cells, Raised creatine kinase during 1st
decade but then falls as muscle mass lost; Duchenne Sx - normal at birth,

delayed walking, proximal weakness, enlarged lower leg, wheelchair by 10


yo, cardiomyopathy/arrhythimias, sometimes mental retardation, death by 25
usually by resp failure/pulm infection/heart failure.

^ 33-year-old man has had increasing muscular weakness for 13 years. On


examination, he has primarily proximal weakness with associated atrophy. His
serum creatine kinase level is elevated. The microscopic appearance of his
muscle biopsy specimen with immuno-histochemical staining for dystrophin is
shown. 1.What is your diagnosis?2.Why did the weakness have its onset
during adulthood?: Becker muscular dystrophy (variation in muscle fibre size,
reduced dystrophin showing as little brown staining membrane). Cf Duchenne
which iin which the dystrophin gene mutation causes complete absence of
dystrophin. Onset is delayed to adulthood. Degeneration/regeneration of
muscle fibers.