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PAOLA VANNI
U.O NEUROLOGIA
OSMA - USL CENTRO FIRENZE
LE NEUROPATIE PERIFERICHE
DEFINIZIONE
Peripheral neuropathy
describes
damage to the Peripheral Nervous System.
Neuropatie
• Nei paesi sviluppati il diabete e l’alcolismo sono le cause principali.
• Nei paesi sottosviluppati la lebbra è la causa prima.
• II casi dovuti a HIV sono in aumento.
• Il 13-22% di neuropatie sono senza una causa definita accertata.
• La valutazione del paziente affetto da neuropatia è un processo
che richiede molto tempo perché è necessario un approcciosistematico clinico – strumentale.
La clinica neurologica si avvale di 3 domande
#1. Dove è la lesione?
#2. Qual è l’eziologia ?
#3. Quale il trattamento?
www.ama-assn.org/ ama/pub/category/7172.html
The clinical effect of a polyneuropathy depends on1) what modalities involved 2) what fibers are effected
3) whether the injury is axonal or demyelinating.
Adapted from http://www.neuroanatomy.wisc.edu/SClinic/Weakness/Weakness.htm
The Motor Unit
From Dumitru, D. Electrodiagnostic Medicine, Hanley & Belfus. Philadelphia. 1995
Localization and
determination of etiology
key, as treatment of
peripheral neuropathy is the
treatment of the underlying
condition.
Roots, plexus, nerves.
Peripheral nerves can be
diseased singly or multiply.
The distinction important as
the pathophysiology and
etiologies different – focal,
multifocal or diffuse. This is a
determination that can be
made at the bedside…
Plan of the Nervous System
^
^
Motor
UMN
LMN
Sensory
>
^
v
v
v
<
^
^<Autonomic
PSy
Sy
^
c
o
r
d
m.
drg
v
Spth
DorC
v
T1-L2
III,VII,IX,X
S2-4
t
h
c.
r.
g.
n.
Motor nerves Control movements of all muscles under conscious control,
such as those used for walking, grasping things, or talking.
Sensory nerves Transmit information about sensory experiences, such as
the feeling of a light touch or the pain resulting from a cut.
Autonomic nerves Regulate biological activities that people do not control
consciously, such as breathing, digesting food, and heart and gland functions.
RIASSUMENDO:
QUADRI CLINICI secondo la
topografia della neuropatia periferica
www.ama-assn.org/ ama/pub/category/7172.html
• Mononeuropatie (singolo nervo come meralgia, notalgia….)
• Polineuropatie
Nervi multipli
contigue
simmetriche
tipicamente localizzate (“stocking-glove”)
Poliradiculoneuropatie estese anche alla parte prossimale dei nn
fino alle radici (GB e CIDP)
Neuronopatie
Ganglionopatie (neuroni sensitive gangliare -
disimmuni o paraneo o idiopatiche)
Motorie (SLA)
Plessopatie (brachiale e lombare)
Mononeuropatie Multiple
Asimmetric
2 o piu’ nervi
Non contigui
Polineuropatia è piuttosto frequente (2.4% )
(8% over 55 aa)
http://www.neuro.wustl.edu/neuromuscular/pathol/nervenl.htmhttp://fulton.edzone.net/cites/winkler-science/team1/chap8.html
Qualche dato
anatomico del
nervo per meglio
comprendere se
l’interessamento
riguarda l’assone
la mielina o
entrambi
Axonopathies
By far the majority of the toxic, metabolic and endocrine causes
NCVs: CMAPs ↓ 80% lower limit of normal w/o or min velocity or distal motor latency change.
Legs>> arms.
EMG: Signs of denervation (acute, chronic) and reinnervation
Myelinopathies
By far the majority of the immunomediate, inflammaoty causes
Clues: hypertrophic nerves on exam
global arreflexia
weakness without wastingmotor >> sensory deficitsNCS can discriminate inherited from acquired
NCS: Distal motor latency prolonged (>125% ULN)Conduction velocities slowed (<80% LLN)May have conduction block
EMG: Reduced recruitment w/o much denervation
Loss of function
“- symptoms”
Disturbed function
“+ symptoms”
Motor nerves Wasting
Hypotonia
Weakness
Hyporeflexia
Orthopedic deformity
Fasciculations
Cramps
The clinical response to motor nerve injury
NEGATIVE OR POSITIVE
www.neuro.wustl.edu/neuromuscular/pics/people/patients/Hands/handatrophymnd3.jpg
Loss of function
“- symptoms”
Disordered function
“+ symptoms”
Sensory
“Large Fiber” (1)
↓ Vibration
↓ Proprioception
Hyporeflexia
Sensory ataxia
Paresthesias
Sensory
“Small Fiber” (2)
↓ Pain
↓ Temperature
Dysesthesias
Allodynia
The clinical response to motor nerve injury
NEGATIVE OR POSITIVE
1)Large fibers (thickly myelinated 50-120m/s motor and proprioception)
2)Small fibers (thinly myelinated 5-15m/s and unmyelinated 0.2-2m/s) conducting pain, touch
and autonomic fibers
Loss of function
“- symptoms”
Disturbed function
“+ symptoms”
Autonomic nerves ↓ Sweating
Hypotension
Urinary retention
Impotence
Vascular color changes
↑ Sweating
Hypertension
The clinical response to motor nerve injury
NEGATIVE OR POSITIVE
People may become unable to digest food easily, maintain safe levels of blood
pressure, sweat normally, or experience normal sexual function.
In the most extreme cases, breathing may become difficult or organ failure may
occur.
http://www.neuro.wustl.edu/neuromuscular/nother/skel.html#nosteo
La clinica neurologica si avvale di 3 domande
#1. Dove è la lesione?
#2. Qual è l’eziologia ?
#3. Quale il trattamento?
www.ama-assn.org/ ama/pub/category/7172.html
CLASSIFICAZIONI DELLE NEUROPATIE
PATTERN CLINICO
• Caratteristiche
temporali Acuto, subacuto e cronico
PATOLOGIA
• Degenerazione
assonale
• Demielinizazzione
segmentale
• Piccole fibre
• Miste
EZIOLOGIA
• Ereditaria
• Metabolica
• Nutrizionale
• Tossica (farmaci
lavoro/alcool)
• Vasculitica
• Immune
• Infettiva (lime lebbra
AIDS)
• Neoplastica
• Traumatica/compressi
va
CAUSE DI POLINEUROPATIA SUBACUTA O CRONICA SIMMETRICA, MISTA MOTORIA,
SENSITIVA AUTONOMICA
• Metaboliche
• Diabete mellito
• Insufficienza renale cronica
• Ipotiroidismo
• Acromegalia
• Disturbi metabolici ereditari
• Stati carenziali
• Tiamina (B1)
• Acido Pantotenico (B2)
• Piridossina (B6)
• Cianocobalamina (B12)
• Digiuno
• Malassorbimento
• Iperemesi
• Tossiche
• Alcool
• Tallio, Arsenico, Piombo
• N-esano
• Acrilamide
• Tri-ortocresyl fosfato
• Farmaci
• Antineoplastici: vincicristina, procarbazina, nitrofurazone,
etoposside, clorambucile
• Antimicrobici: isoniazide, etionamide, itrofurantoina,
metronidazolo, clioquinolo, dapsone
• Farmaci Cardiovascolari: perexillina, amiodarone
• Antireumatici: oro, penicillamina
• Anticonvulsivanti: Fenitoina
• Farmaci vari: disulfiram
• Neuropatia associata a carcinoma
• Neuropatie associate a disordini del sistema immunitario
in associazione con collagenopatie,
• linfomi e paraproteinemie,
• Polineuropatia infettiva subacuta,
• Infezione da HIV,
• Epstein-Barr,
• Citomegalovirus e Herpes zooster
• Iniezioni di siero di cavallo – tossina antitetanica
• Neuropatie ereditarie
ESEMPI DI NEUROPATIE PERIFERICHEDifetti metabolici sconosciuti Ereditarietà Patologia del nervo
Malattia di Charcot-Marie-Tooth, 1 e 2 Dtipo 1 demielinizzante
tipo 2 assonale
Malattia di Dèjèrine-Sottas R demielinizzante
Neuropatia sensitiva ereditaria
(Thèvenard, Denny-Brown)R assonale (DRG)
«Congenite» (ad insorgenza
precoce-Ohta, Dick)R assonale (DRG)
Disautonomia familiare (Riley-Day) R assonale (DRG)
Amiloidosi D assonale
Predisposizione ereditaria a paralisi
da pressione D demielinizzante
NB – DRG = gangli delle radici dorsali
ESEMPI DI NEUROPATIE EREDITARIEDifetti metabolici sconosciuti Ereditarietà Patologia del nervo
Deficit di uroporfirinogeno 1sintetasi
Porfiria acuta intermittente
D assonale
Deficit di Arilsulfatasi A
Leucodistrofia metacromatica
R demielinizzante
Deficit di galattosil ceramide o
betagalattosidasi- leucodistrofia a cellule
globoidi
R assonale
Deficit di lipoproteina ad alta densita’
Malattia ddi TangierR assonale
A-betalipoproteinemia o M di Bassen R assonale (DRG)
Malattia da accumulo di acido fitanico – M di Refsum
R demielinizzante
Deficit di alfa-galattosidasi AX –linked R Assonale (DRG)
NB – DRG = gangli delle radici dorsali
NEUROPATIE più frequenti
• DIABETICA
• GUILLAIN-BARRE’
• CIDP
• LES
• MGUS
• HIV
Come possiamo scegliere tra le numerose cause
per fare una diagnosi eziologica?
USANDO LE 6 D
1. What is the distribution of the deficits?
2. What is the duration?
3. What are the deficits (which fibers are involved)?
4. What is the disease pathology (axonal or
demyelinating or mixed)
5. Is there an inherited developmental neuropathy?
6. Is there drug/toxin exposure?
Quali gli esami ?Esami complementari al bilancio clinico:
1.EMG/ENG
2.Esami ematochimici (routine con protigramma,
autoimmunitari, oncogeni, dosaggio vitamine e, in ambito
specialistico,ab antigangliosidi e antiMAG, celiachia porfiria,
infettivologici, tossici esogeni) Markers genetici
3.Biopsia (raramente)
NB: La positività di alcuni tests diagnostici non necessariamente
correla con l’eziologia della PNP (p es non necessariamente una
neuropatia in un diabetico è una «PNP diabetica»)
CSF is useful in evaluation of myelinopathies and
polyradiculopathies.
An elevated total protein level with < 5
wbc(albumin/cytologic dissociation) is present in
acquired inflammatory neuropathy (e.g., Guillain-
Barré syndrome, CIDP).
Esami di laboratorio: Liquor
Nerve biopsy is only helpful in very
specific cases to diagnose vasculitis,
leprosy, amyloid neuropathy,
leukodystrophies, sarcoidosis.
Esami di laboratorio: biopsia
Other studies useful in specific clinical contexts
are:
cytology (Lymphoma)
special studies
such as Lyme polymerase chain reaction
and cytomegalovirus branched chain DNA
(polyradiculopathy or mononeuritis
multiplex in AIDS).
Esami di laboratorio
Manifestazione
Disordini che
simulano PNSPNS vere
Malattia diffusaMononeuropatia
focale
Polineuropatia
assonalePolineuropatia
demielinizzante
Mononeuropatie
multiple
AcquisitaAcquisita EreditariaEreditaria
Overview of the Lecture –Mastering polyneuropathy
#1. Where is the injury?The syndrome depends on:
what modalities are injured,
what fibers are injured,
whether axon or myelin (or both) injured.
#2. What is the etiology?Tricky – hence an approach necessary at the bedside.
#3. What is the treatment?Depends on reversing the underlying cause.
ALCUNI SEMPLICI ESEMPI CLINICI
CASI CLINICI (1)
Uomo di 60 anni AD di una nota industria dolciaria
Da circa 2 anni ipo/disestesia degli alluci e taloradolore
All’obiettività ipoestesia degli alluci con ROT achillei assenti
Anamnesi negative per comorbidità o storiafamiliare o farmaci
Effettua numerose visite ed esami di laboratorio d routine che risultano nella norma
Ethanol Neuropathy
(A common axonal polyneuropathy)
Among the most common neuropathies worldwide
Chronic
Numbness, paresthesias, pain in stocking distribution
Sensory >>> Motor
Loss of ankle reflexes
History!
Ethanol toxicity and nutritional deficiency
Vitamin B1 (thiamine)
Casi clinici (2):
Uomo di 25 anni, giocatore di calcio
Anamnesi patologica remota nella norma
Importante dolore L-S e al bacino seguito da debolezza in poche ore fino ad essereincapace di deambulare
Grave debolezza agli AAII e piu’ lieve agliAASS
Assenti I ROT agli AAII e iporeagenti agli AASS
Ipoestesia dei piedi
Un episodio di diarrea 15 gg prima
Guillain-Barre Syndrome
(A common demyelinating polyneuropathy)
Rapid, severe, typically ascending paralysis
Post infectious in 60%
Paresthesias, pain, numbness
Autonomic nerves
Reflexes lost
Cytoalbuminologic dissociation in the CSF
Casi clinici (3):
Pz di 59 anni obesa
Storia familiare di diabete
Da 4-5 anni presenta nocturia e da 1-2 anni anche poliuria
Cute dei piedi molto secca
Ipoestesia a calza
Achillei assenti
Diabetic Polyneuropathy
(A common mixed axonal & demyelinating polyneuropathy)
Multiple forms of neuropathy in diabetes
Sensory >>> motor polyneuropathy
Autonomic involvement common
CSF protein frequently elevated
Glucose control!
Foot care
Take the message:
La complessità della diagnosi
eziologica delle neuropatie
periferica impone la valutazione
del paziente nel suo insieme
anamnestico clinico e strumentale
TERAPIA
The goal of treatment is to manage the underlying condition causing the
neuropathy and repair damage, as
well as provide symptom relief.
Controlling a chronic condition may
not eliminate the neuropathy, but it
can play a key role in managing it.
TERAPIA (1):
Medications : Corticosteroids or analgesics .
Immunoglobuline or Plasmaferesis
Antiepileptic drugs, including Lyrica (pregabalin), Neurontin (gabapentin), and Tegretol(carbamazepine)
Some classes of antidepressants, including tricyclics such as Anafranil (amitriptyline) and Cymbalta (duloxetine).
Local anesthetics such as lidocaine or topical patches containing lidocaine
Codeine/oxycodone
Neurotrofici e gruppo B
Surgical intervention often can provide immediate relief from mononeuropathies caused by compression or entrapment injuries.
Repair of a slipped disk can reduce pressure on nerves where they emerge from the spinal cord; the removal of benign or malignant tumors can also alleviate damaging pressure on nerves.
Nerve entrapment often can be corrected by the surgical release of ligaments or tendons.
Terapia (2)
Conclusioni: Neuropatia periferica
1. Patterns: mononeuropathy, mononeuropathy multiplex or polyneuropathy – focal, multifocal or diffuse
2. “Signature” manifestations of a polyneuropathy depend on what modalities affected (motor, sensory, autonomic) and whether it is axonal or demyelinating.
3. Examination, NCS/EMG & biopsy can discriminate axonopathy from myelinopathy
4. The multiple potential etiologies of polyneuropathy are manageable recognizing patterns of disease by the 6 Ds
GRAZIE PER L’ATTENZIONE
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