פרק 43 Chapter 43: Diseases of the Peripheral Nerves Flashcards
איזה מהתכשירים הבאים לא גורם לנוירופתיה היקפית?
א. וינקריסטין
ב. אדריאמיצין
ג. טקסול
ד. תלידומיד
ה. ציספלטינום
ב. אדריאמיצין
Table 43-2
THE PRINCIPAL NEUROPATHIC SYNDROMES AND THEIR CAUSES
part 1- acute (10)
Table 43-2
THE PRINCIPAL NEUROPATHIC SYNDROMES AND THEIR CAUSES
part 2- subacute sensory motor
Symmetrical polyneuropathy (7)
Asymmetrical polyneuropathy (mononeuropathy multiplex) (11)
Unusual sensory neuropathy (2)
Meningeal based nerve roots (polyradiculopathy) (4)
Table 43-2
THE PRINCIPAL NEUROPATHIC SYNDROMES AND THEIR CAUSES
part 3 Syndrome of early chronic sensorimotor polyneuropathy (11)
Table 43-2
THE PRINCIPAL NEUROPATHIC SYNDROMES AND THEIR CAUSES
*part 4- Syndrome of more chronic (late) polyneuropathy, genetically determined forms
Table 43-2
THE PRINCIPAL NEUROPATHIC SYNDROMES AND THEIR CAUSES
*part 5- others
איזה מן השרירים אינו מעוצבב על ידי ה-
posterior cord of brachial plexus
1. deltoid
2. triceps
3. extensor digitorum communis
4. biceps
5. brachioradialis
- biceps
Deltoid - axillary
Triceps – radial
Brachioradialis – radial
Extensor digitorum – posterior interosseos
Figure 43-2. Diagram of the basic pathologic processes affecting peripheral nerves. In wallerian degeneration, there is degeneration of the axis cylinder and myelin distal to the site of axonal interruption (arrow) and central chromatolysis. In segmental demyelination, the axon is spared. In axonal degeneration, there is a distal degeneration of myelin and the axis cylinder as a result of neuronal disease. Both wallerian and axonal degeneration cause muscle atrophy.
Table 43-1
ACTIONS OF THE PRINCIPAL MUSCLES AND THEIR NERVE ROOT SUPPLY part 1 Cranial
Table 43-1
ACTIONS OF THE PRINCIPAL MUSCLES AND THEIR NERVE ROOT SUPPLY part 2 Brachial
Table 43-1
ACTIONS OF THE PRINCIPAL MUSCLES AND THEIR NERVE ROOT SUPPLY part 3 Crural
Table 43-3
VARIANTS OF GUILLAIN-BARRÉ SYNDROME
Figure 43-3. Diagram of probable cellular events in acute inflammatory polyneuropathy (Guillain-Barré syndrome). A. Lymphocytes attach to
the walls of endoneurial vessels and migrate through the vessel wall, enlarging and transforming as they do so. At this stage no nerve damage
has occurred. B. More lymphocytes have migrated into the surrounding tissue. The first effect on the nerve is breakdown of myelin, the axon
being spared (segmental demyelination). This change appears to be mediated by the mononuclear exudate, but the mechanism is uncertain.
C. The lesion is more intense, polymorphonuclear leukocytes being present as well as lymphocytes. There is interruption of the axon in addition
to myelin sheath damage; as a result, the muscle undergoes denervation atrophy and the nerve cell body shows central chromatolysis. If
the axonal damage is distal, the nerve cell body will survive, and regeneration and clinical recovery are likely. If, as in D, axonal interruption
has occurred proximally because of a particularly intense root or proximal nerve lesion, the nerve cell body may die and undergo dissolution. In
this situation, there is no regeneration, only the possibility of collateral reinnervation of muscle from surviving motor fibers.
Table 43-4
CAUSES OF MONONEUROPATHY MULTIPLEX
Figure 43-4 Patterns of sensory loss in leprosy. The localization of
these areas to cooler portions of the body is unique to this disorder.
There is almost universal analgesia but sparing of warmer regions
such as the midline of the back, popliteal and antecubital spaces,
lower abdomen and groin, and the head and neck. (From Sabin TD:
Preservation of sensation in a cutaneous vascular malformation in
lepromatous leprosy. N Engl J Med 282:1084, 1970, with permission.)
Table 43-5
CAUSES OF PAINFUL SENSORY NEUROPATHY
Table 43-6
CLASSIFICATION OF THE INHERITED PERIPHERAL NEUROPATHIESa
part 1
Table 43-6
CLASSIFICATION OF THE INHERITED PERIPHERAL NEUROPATHIESa part 2
Table 43-7
LABORATORY TESTS FOR THE INVESTIGATION OF
SUBACUTE AND CHRONIC POLYNEUROPATHIES
Figure 43-5. Diagram of the brachial plexus: the components of the plexus have been separated and drawn out of scale. Note that peripheral nerves arise from various components of the plexus: roots (indicated by cervical roots 5, 6, 7, 8, and thoracic root 1); trunks (upper, middle, lower); divisions (anterior and posterior); and cords (lateral, posterior, and medial). The median nerve arises from the heads of the lateral and medial cords. (From Haymaker and Woodhall, Peripheral Nerve Injuries, 2nd ed. Philadelphia, Saunders, 1953, by permission.)
טבלה של עצבוב ופגיעות אפשריות של הגפה העליונה
Table 43-8
ENTRAPMENT NEUROPATHIES
Figure 43-6. Diagram of the lumbar plexus (left) and the sacral plexus (right). The lumbosacral trunk is the liaison between the lumbar and the sacral plexuses. (From Haymaker and Woodhall, Peripheral Nerve Injuries, 2nd ed. Philadelphia, Saunders, 1953, by permission.)
Figure 43-1. Diagram showing the relationships of
the peripheral nerve sheaths to the meningeal coverings
of the spinal cord. The epineurium (EP) is
in direct continuity with the dura mater (DM). The
endoneurium (EN) remains unchanged from the
peripheral nerve and spinal root to the junction with
the spinal cord. At the subarachnoid angle (SA),
the greater portion of the perineurium (P) passes
outward between the dura mater and the arachnoid
(A), but a few layers appear to continue over the
nerve root as part of the root sheath (RS). At the
subarachnoid angle, the arachnoid is reflected over
the roots and becomes continuous with the outer
layers of the root sheath. At the junction with the spinal
cord, the outer layers of the root sheath become
continuous with the pia mater (PM). (From Haller FR,
Low FM: The fine structure of the peripheral nerve
root sheath in the subarachnoid space in the rat and
other laboratory animals.
. תיאור של קליניקה של רפסום עם ממצא שלח.פיטניתמוגברת. מה לא נכון?
1. חרשות
2. עיוורון
3. קרדיומיופתיה
4. ירידה קוגניטיבית
5. עליה בחלבון בCSF
ירידה קוגניטיבית אינה חלק מרפסום
Anti MAG
פלזמה פרזיס או
IVIG
DADS-distal acquired demyelinating symmetrical neuropathy: distal sensory and sometimes motor, disturbances and greatly prolonged distal latencies in most patients, and two-thirds have an associated IgM monoclonal gammopathy with kappa light chain component; the illness responds poorly to Treatment, aligning it clinically in some respects with the anti-MAG neuropathies but in most clinical and electrophysiologic features appearing to be a variant of CIDP.
Treatment is the same as GBS CIDP high doses of gamma globulin or plasma exchange. after a while the infusions must be repeated to maintain clinical improvement
בן 50, מתאר חולשת רגליים עם קושי בקימה ובהליכה. בבדיקתו- חולשת איליאופסואס מימין וקוואדריספס מימין. אין אטרופיה. החזר פיקה מימין הופק חלש, אכילסים ופיקה משמאל הופקו. מה האבחנה?
א. נוירופתיה פמורלית
ב. IBM
ג. מיופתיה מסטרואידים
ד. נוירופתיה סנסורית
נוירופתיה פמורלית
Femoral : L2, 3, 4
* Nerve splits into anteiror and posterior divisions-
1. Anterior – pectineus and sartorius (flexion of hip) – sensation anteromedial surface of thigh.
2. Posterior motor innervation to quadriceps and cutaneous innervation to medial side of leg from knee to internal malleolus
- Femoral nerve weakness- weakness of quads – extension of knee, wasting and difficulty to stabilise Knee. Knee jerk abolished, If the nerve lesion is proximal to the branches of the iliacus and psoas muscles – weakness of hip flexion.
- To decide between femoral neuropathy and L3 – check for involvement of obturator (hip adductor weakness).
The main effects of upper lumbar plexus lesions are weakness of flexion(femoral nerve) and adduction(obturator nerve) of the thigh and extension of the leg, with sensory loss over the anterior thigh and leg; these effects must be distinguished from the symptoms and signs of femoral neuropathy
בחור אחרי מסע אלונקות שבו הניח את האלונקה על כתף ימין מפתח נוירופתיה ביד ימין. שנה קודם לכן אותו דבר התרחש ביד שמאל עם רזולוציה מלאה. מה תהיה הפתולוגיה?
א. tomacualle
ב. Onion bulbs
Tomacualle - sausage shape.
Hereditary Neuropathy With Pressure Palsies (HNPP, PMP22 Deletion)
multiple recurrent local neuropathies, caused by a deletion of the PMP22 gene, duplicated in the previously described CMT1A. In both the PMP22 gene is functionally normal but the total amount of the protein is abnormal.
CMT1A the gene is duplicated on one chromosome, thereby increasing the total PMP22 protein; by contrast, in HNPP, the gene is deleted so that the PMP22 protein is at approximately half-normal levels.
HNPP is transmitted as a dominant trait. In these individuals, the focal neuropathies and plexopathies are generally not painful.
Focal nerve lesions are often provoked by slight or even brief compression. In addition to recurrent focal nerve palsies, most individuals with HNPP have an underlying chronic but slowly progressive demyelinating sensorimotor neuropathy that is mild on clinical examination (e.g., not all cases show areflexia). Electrophysiologic studies are abnormal, but may be only subtly so, with some slowing of conduction and distal motor and sensory nerve abnormalities, particularly across sites of compression. Nerve biopsies from these patients are most remarkable for the presence of localized nerve sheath thickening with duplication of the myelin lamellae (so-called tomaculae, meaning sausage shaped).
T/F: In contrast to acute GBS, many cases of CIDP respond favourably to the administration of prednisone
True
What is the EMG and CSF picture of CIDP?
EMG reduced conduction velocity and conduction block like that in demyelinating
CSF cytoalbuminologoc dissociation
T or F Cranial nerve involvement is NOT a usual feature of CIDP
true
מטופל עם חולשה והפרעת תחושתית שהתקדמה במהלך איטי וכעת מעקבת 3 גפיים,
EMG מראה מעורבות של 3 גפיים מוטוריות וסנסוריות עם חסמי הולכה. בניקור חלבון תקין, 3 תאים. מה האבחנה?
1. AIDP
2. CIDP
3. MMN (multifocal motor neuropathy)
4. MADSAM (multifocal aquired demyelination sensory and motor neuropathy)
MADSAM (multifocal aquired demyelination sensory and motor neuropathy)
איך שוללים את שאר המסיחים:
MMNis only motor
Aidp and cidp have high protein in the CSF.
פירוט:
—
Several polyneuropathies that share many of the features of CIDP have been delineated on the basis of unique clinical, immune, or electrophysiologic attributes. These include particularly multifocal motor neuropathy (MMN) and multifocal conduction block (also called MADSAM). The MADSAM has as its main feature a block of
mixed nerve conduction at focal sites in a limited number of nerves. In multifocal motor neuropathy, only blocks in motor nerve conduction are evident. The distinction between these two entities has been difficult. There are similarities in clinical features and response to treatment, but there is utility in separating them. Multifocal motor neuropathy, is associated in half of cases with a particular IgM antibody, anti-GMI directed against a ganglioside component of peripheral myelin Multifocal motor neuropathy and motor conduction block predominate in men. They usually begin with an acute or subacute motor mononeuropathy, manifest, for example, as weakness of the wrist or foot-drop, and are often joined insidiously by another focal motor palsy. The process is painless, unlike vasculitic mononeuritis multiplex, involves the nerve incompletely, and, in its usual form, is unaccompanied by any sensory symptoms such as paresthesias or numbness.
Despite the initially demyelinating character of the disorder, there is almost always atrophy of the weakened muscle within months and there may be a few fasciculations, thus simulating ALS. Nevertheless, the weakness tends to be disproportionate to atrophy. Usually, the tendon reflex is lost or muted in an affected region, but for unexplained reasons, some patients have
one or more brisk reflexes. Our experience has been that this latter reflex change does not reach the point of appearing “pathologic” and that clonus and Babinski signs are categorically not part of the illness, as they are in ALS.
When there is an association of the motor features with sensory symptoms or sensory loss and there is slowing of sensory conduction in regions of motor conduction block (multifocal conduction block), the acronym **MADSAM **(multifocal acquired demyelinating sensory and motor neuropathy) has been used as noted earlier, but the disorder, while similar to multifocal conduction block, more resembles CIDP. The disease is not directly connected to antibodies against
GMl, but a few patients with the sensorimotor disorder will display them.
Treatment For multifocal motor conduction block and motor neuropathy, with or without anti-GM1 antibodies, IVIg infusions have been effective, albeit temporarily, in more than half of patients. Some authoritative clinicians favor the early addition of rituximab in treatment-resistant cases or when the frequency of infusions is unsustainable and if that fails, cyclophosphamide. Other immune-modulating drugs have been tried in small series with various results. There is no response to corticosteroids.
The MADSAM illness responds similarly to corticosteroids, IVIg, or plasma exchange, similar to the effects of these approaches in CIDP.
בן 52, קושי בישור שורש כף יד ואצבעות משמאל מזה חודש. כעבור שבועיים צניחת כף יד ימין. שולל מעורבות סנסורית. שולל כאבים. בבדיקה היעדר החזרים גידיים בידיים ועקב מימין, ירידה בפיקה מימין, החזרים רגל שמאל תקינים. תחושה שמורה. בנוזל השדרה- חלבון גלוקוז תקינים ללא תאים. בבדיקת הולכה עצבית נצפו חסמי הולכה מוטוריות במספר עצבים היקפיים. הדמייה צווארית תקינה. מה הטיפול?
א – IV Ceftriaxone
ב- IVIG
ג- Corticosteroids
ד- Riluzole
ה – Plasmapheresis
IVIG
מדובר פה ב
MMN (multifocal motor neuropathy)
Treatment For multifocal motor conduction block and motor neuropathy, with or without anti-GM1 antibodies, IVIg infusions have been effective, albeit temporarily, in more than half of patients. Some authoritative clinicians favor the early addition of rituximab in treatment-resistant cases or when the frequency of infusions is unsustainable and if that fails, cyclophosphamide. Other immune-modulating drugs have been tried in small series with various results. There is no response to corticosteroids.
The MADSAM illness responds similarly to corticosteroids, IVIg, or plasma exchange, similar to the effects of these approaches in CIDP.
מטופל בן 65, מתקבל בתמונה של צניחת שורש כף יד מימין. wrist drop
בהמשך מפתח חולשת כף רגל שמאל , חולשת פלקציה של זרוע שמאל . בבדיקת הולכות עוצביות יש חסמי הולכה, ללא מעורבות סנסורית . איזה נוגדן יימצא ?
1. GM1
2. GT1
3. ANTI HU
4. ANTI RI
Anti GM-1
Multifocal motor neuropathy, is associated in half of cases with a particular IgM antibody, anti-GMI directed against a ganglioside component of peripheral myelin Multifocal motor neuropathy and motor conduction block predominate in men. They usually begin with an acute or subacute motor mononeuropathy, manifest, for example, as weakness of the wrist or foot-drop, and are often joined insidiously by another focal motor palsy. The process is painless, unlike vasculitic mononeuritis multiplex, involves the nerve incompletely, and, in its usual form, is unaccompanied by any sensory symptoms such as paresthesias or numbness. Despite the initially demyelinating character of the disorder, there is almost always atrophy of the weakened muscle within months and there may be a few fasciculations, thus simulating ALS. Nevertheless, the weakness tends to be disproportionate to atrophy. Usually, the tendon reflex is lost or muted in an affected region, but for unexplained reasons, some patients have one or more brisk reflexes. Our experience has been that this latter reflex change does not reach the point of appearing “pathologic” and that clonus and Babinski signs are categorically not part of the illness, as they are in ALS.
Treatment For multifocal motor conduction block and motor neuropathy, with or without anti-GM1 antibodies, IVIg infusions have been effective, albeit temporarily, in more than half of patients. Some authoritative clinicians favor the early addition of rituximab in treatment-resistant cases or when the frequency of infusions is unsustainable and if that fails, cyclophosphamide. Other immune-modulating drugs have been tried in small series with various results. There is no response to corticosteroids.
אלכוהוליסט עם חולשה ברגליים. לפני כחודשיים
foot drop
כעת
wrist drop
ללא הפרעת תחושתית. איזה מהבאים הכי סביר שימצא בבדיקת דם?
1. anti YO
2. anti HU
3. ESR
4. Anti GM1
Anti GM1 -MMN
איך לשלול מסיחים אחרים-
Anti Yo – Cerebellar Syndrome
Anti HU – Sensory, encephalitis
ESR – GCA, PMR
Anti GM1 – CIDP, MMN
Multifocal motor neuropathy, is associated in half of cases with a particular IgM antibody, anti-GMI directed against a ganglioside component of peripheral myelin Multifocal motor neuropathy and motor conduction block predominate in men. They usually begin with an acute or subacute motor mononeuropathy, manifest, for example, as weakness of the wrist or foot-drop, and are often joined insidiously by another focal motor palsy. The process is painless, unlike vasculitic mononeuritis multiplex, involves the nerve incompletely, and, in its usual form, is unaccompanied by any sensory symptoms such as paresthesias or numbness. Despite the initially demyelinating character of the disorder, there is almost always atrophy of the weakened muscle within months and there may be a few fasciculations, thus simulating ALS. Nevertheless, the weakness tends to be disproportionate to atrophy. Usually, the tendon reflex is lost or muted in an affected region, but for unexplained reasons, some patients have one or more brisk reflexes. Our experience has been that this latter reflex change does not reach the point of appearing “pathologic” and that clonus and Babinski signs are categorically not part of the illness, as they are in ALS.
Treatment For multifocal motor conduction block and motor neuropathy, with or without anti-GM1 antibodies, IVIg infusions have been effective, albeit temporarily, in more than half of patients. Some authoritative clinicians favor the early addition of rituximab in treatment-resistant cases or when the frequency of infusions is unsustainable and if that fails, cyclophosphamide. Other immune-modulating drugs have been tried in small series with various results. There is no response to corticosteroids.
מטופלהתקבלבתמונהשלחולשתגפייםתחתונותשהתקדמהמלמטהלמעלה באופן מהיר במשך יומיים. בהמשך עירבה גם את הגפיים העליונות . בבדיקתEMGללא עדות לתגובה מוטורית כלל . מה המחולל האחראי לכך ?
א.קמפילובקטר
ב.מיקופלסמה
ג.EBV
ד.WNV
קמפילובקטר- הסיבה הויראלית השכיחה יותר לגיליאן ברה.
The defining feature was the presence of numerous electrically inexcitable motor nerves and signs of extensive denervation
WNV+ mycoplasma= myelitis- does not ascenf
מטופלהתקבלכאשרלפנישבועייםמחלתשלשולים.כעתבמהלךשלמספרימיםחולשהשהתקדמהמלמטהלמעלה,מערבת4גפיים.
EMG- יום לאחר קבלתו שינויים קלים בלבד. EMGכשבוע לאחר קבלתו עדות ל ירידה ב
CMAP,
ללא חסמי הולכה. מה תמצא?
א.anti MAG
ב.anti Gm1
ג.Anti GD1
ד.anti GT1
anti GM1 or Anti GD1
* Beyond the close association between autoantibodies to GQ 1b and Fisher syndrome or other variants that include ophthalmoplegia as mentioned previously other antiganglioside antibodies have become of interest in GBS. The acute motor axonal variety has a tendency to be associated with antibodies to GM1 or GD1a and the pharyngealcervicalbrachial
syndrome, to GT1a.
* Approximately one fifth of patients have anti GM1 antibodies early in their course, corresponding in most instances to a predominantly motor presentation and to axonal damage, the highest titers being associated with cases that follow Campylobacter infections. Antibodies directed against GD1a or GT1b are associated in some cases with the pharyngeal-brachial-cervical variant.
* anti MAG- sensory motor- associated with MGUS
מה שולל גיליאן ברה?
1. חלבון תקין בניקור
2. גלוקוז תקין בניקור
3. 150 תאים לבנים בניקור
4. 20 תאים אדומים בניקור
150 תאים לבנים בניקור
שולל גיליאן ברה
להשלים עוד שני ימי טיפול ב
IVIG
As effective as plasma exchange is, IVIg (0.4 g/kg per day for 5 consecutive days) is easier to administer and probably safer than plasma exchange because there is no need for large intravenous access.
The clinical improvement that follows the administration of IVIg or plasma exchange usually cannot be readily discerned in an individual patient; i.e., it is apparent only by comparing large groups of treated and untreated patients. For this reason it is not possible to judge that a patient who fails to improve or who worsens through the period of treatment has derived no benefit from therapy.
איזה ממצאים הבאים מהווה סימן פרוגנוסטי לא טוב להחלמה מ
AIDP
1. מחסום הולכה מוטורית
2. ערכי החלבן גבוהים בנוזל השדרה בתחילת התסמינים
3. ערכי חלבון גבוהים בנוזל השדרה במשך 4-6 שבועות
4. פעלות ספונטנית במנוחה בבדיקה אלקטרו-מיוגרפית
5. anti GQ1B antibodies in the CSF
פעלות ספונטנית במנוחה בבדיקה אלקטרו-מיוגרפית
מעיד על דה-נרווציה ונזק אקסונלי
הפגיעה הדיסאוטונומית בגיליאן ברה היא בבארורצפטורים וסיבים פוסט גנגליונים.
דה נרווציה בשרירים בגלל פגיעה אקסונלית
מה מנבא פרוגנוזה רעה בגיליאן ברה?
1. ממצא של CMAP ירודים
2. חסמי הולכה
3. הפרעה תחושתית
decreased CMAP= axonal= worse prognosis
plasmapheresis
בגלל חסר ידוע ב-
IgA
היפותירואידיזם רק מתקדמת ללא התקפים אקוטים. חולפת לחלוטין לאחר טיפול ולעיתים אף רברסבילית.
Polyneuropathy With Hypothyroidism
Although characteristic disturbances of skeletal muscle are known to complicate hypothyroidism, the demonstration of a definite polyneuropathy has been infrequent. Loss of reflexes, diminution in vibratory, joint-position, and touch-pressure sensations, and weakness in the distal parts of the limbs are the usual findings seldom severe. Nerve conduction velocities are slowed and the protein content of the CSF is usually increased to more than 100 mg/dL. Possibly the latter finding is a reflection of the increased protein content of the serum in the hypothyroid state. The subjective improvement and complete or near-complete reversibility of neuropathic signs following treatment with thyroid hormones provides evidence of a hypothyroid etiology. In biopsies of nerve, an edematous protein infiltration of the endoneurium and perineurium, a kind of metachromatic mucoid material, has been seen. noted segmental demyelination in teased fiber preparations. In electron-microscopic sections, a slight increase in glycogen, acid mucopolysaccharides, and aggregates of glycogen and cytoplasmic laminar bodies in Schwann cells have been observed by others.
Polyneuropathy of sensorimotor type has also been observed in association with a syndrome of chronic lymphocytic thyroiditis and alopecia (Hart et al).
מסיחים אחרים-
Refsum:
* AR – may have relapsing course
* S&S:
Eyes: RP, pupil abnormality, nyctalopsia
Ears: deafness
Heart : cardiomyopathy
Skin: Ichthyosis
Neuro:
1. ataxia,
2. chronic polyneuropathy – sensorimotor, legs>arms, deep>pain
3. Anosmia
4. Onion bulb
- Ix:
CSF – protein increased
Serum - Increased Phytanic Acid - Rx: low phytol
Porphyria:
* Acute intermittent
* AD
* Metabolic defect in liver – increased production and urinary
Excretion of porphobilinogen and delta-aminolevulinic acid.
-
Severe rapid advancing mainly motor polyneuropathy –
Commonly bibrachial weakness and truncal sensory loss
Tachycardia
Abdominal pain
Psychosis
Convulsions - Exacerbated by drugs: sulfonamides, estrogens, barbiturates, phenytoin
- CSF – protein normal or elevated
- RX: IV glucose and hematin
Polyneuropathy with hypothyroidism
* Distal sensorimotor
* Seldom severe
* CSF protein increased
* Complete reversibililty with hormone treatment
מטופל עם נוירופתיה פריפרית, במהלך של אירועים חוזרים של החמרה ולאחריהם שיפור, ולאורך זמן הידרדרות איטית במצבו. מה מהבאים לא מתאים לתמונה הקלינית?
1. CIDP
2. היפותירואידיזם
3. פורפיריה
4. רפסום
היפותירואידיזם רק מתקדמת ללא התקפים אקוטים. חולפת לחלוטין לאחר טיפול ולעיתים אף רברסבילית.
Polyneuropathy With Hypothyroidism
Although characteristic disturbances of skeletal muscle are known to complicate hypothyroidism, the demonstration of a definite polyneuropathy has been infrequent. Loss of reflexes, diminution in vibratory, joint-position, and touch-pressure sensations, and weakness in the distal parts of the limbs are the usual findings seldom severe. Nerve conduction velocities are slowed and the protein content of the CSF is usually increased to more than 100 mg/dL. Possibly the latter finding is a reflection of the increased protein content of the serum in the hypothyroid state. The subjective improvement and complete or near-complete reversibility of neuropathic signs following treatment with thyroid hormones provides evidence of a hypothyroid etiology. In biopsies of nerve, an edematous protein infiltration of the endoneurium and perineurium, a kind of metachromatic mucoid material, has been seen. noted segmental demyelination in teased fiber preparations. In electron-microscopic sections, a slight increase in glycogen, acid mucopolysaccharides, and aggregates of glycogen and cytoplasmic laminar bodies in Schwann cells have been observed by others.
Polyneuropathy of sensorimotor type has also been observed in association with a syndrome of chronic lymphocytic thyroiditis and alopecia (Hart et al).
מסיחים אחרים-
Refsum:
* AR – may have relapsing course
* S&S:
Eyes: RP, pupil abnormality, nyctalopsia
Ears: deafness
Heart : cardiomyopathy
Skin: Ichthyosis
Neuro:
1. ataxia,
2. chronic polyneuropathy – sensorimotor, legs>arms, deep>pain
3. Anosmia
4. Onion bulb
- Ix:
CSF – protein increased
Serum - Increased Phytanic Acid - Rx: low phytol
Porphyria:
* Acute intermittent
* AD
* Metabolic defect in liver – increased production and urinary
Excretion of porphobilinogen and delta-aminolevulinic acid.
-
Severe rapid advancing mainly motor polyneuropathy –
Commonly bibrachial weakness and truncal sensory loss
Tachycardia
Abdominal pain
Psychosis
Convulsions - Exacerbated by drugs: sulfonamides, estrogens, barbiturates, phenytoin
- CSF – protein normal or elevated
- RX: IV glucose and hematin
Polyneuropathy with hypothyroidism
* Distal sensorimotor
* Seldom severe
* CSF protein increased
* Complete reversibililty with hormone treatment
חולה אסטמתי בטיפול נמרץ שלא מצליח להיגמל מהנשמה,
CPK תקין.
מה יהיה בNCT?
1. ירידה במהירות הולכה.
2. Conduction blocks
3. סימני דנרבציה מפושטת.
סימני דה-נרבציה מפושטת
Critical Illness Polyneuropathy
An acute or subacute symmetrical polyneuropathy is a frequent development in critically ill and septic patients, particularly in those with failure of multiple organs. This neuropathy causes difficulty in weaning a patient from the ventilator, even as the underlying critical illness comes under control. The neuropathic process, predominantly of motor type, varies in severity from an electrophysiologic abnormality without overt clinical signs, to quadriparesis with respiratory failure. Sensory symptoms and signs are variable but tend to be mild.
Usually the cranial nerves are spared and there are few or no dysautonomic manifestations.
The EMG and NCS findings of a primary axonal process with early denervation and a normal CSF distinguish this entity from the typical demyelinative form of GBS.
* Critical illness polyneuropathy must also be distinguished From acute critical illness myopathy that also complicates critical illness. High doses of corticosteroids, particularly in combination with neuromuscular blocking agents, have been implicated.
The acute myopathy, which affects both distal and proximal muscles, is sometimes heralded by an elevation in the serum creatine kinase (CK) concentration (at times up to several thousand
units) and myopathic potentials in the EMG, and a unique degeneration of myofilaments in all the muscles is found.
סימני דה-נרבציה מפושטת
Critical Illness Polyneuropathy
An acute or subacute symmetrical polyneuropathy is a frequent development in critically ill and septic patients, particularly in those with failure of multiple organs. This neuropathy causes difficulty in weaning a patient from the ventilator, even as the underlying critical illness comes under control. The neuropathic process, predominantly of motor type, varies in severity from an electrophysiologic abnormality without overt clinical signs, to quadriparesis with respiratory failure. Sensory symptoms and signs are variable but tend to be mild.
Usually the cranial nerves are spared and there are few or no dysautonomic manifestations.
The EMG and NCS findings of a primary axonal process with early denervation and a normal CSF distinguish this entity from the typical demyelinative form of GBS.
* Critical illness polyneuropathy must also be distinguished From acute critical illness myopathy that also complicates critical illness. High doses of corticosteroids, particularly in combination with neuromuscular blocking agents, have been implicated.
The acute myopathy, which affects both distal and proximal muscles, is sometimes heralded by an elevation in the serum creatine kinase (CK) concentration (at times up to several thousand
units) and myopathic potentials in the EMG, and a unique degeneration of myofilaments in all the muscles is found.
חולה עם חולשהבטינאר,אדדוקטורפוליציס, הפרעה תחושתית ב 2-3
נראתפגיעהאולנאריתגבוה . תיאור של רופא שעושה בדיקה שכוללת משיכה אחרונית של הזרוע.
איפההפגיעה:
1. צלעצווארית
2. גידול בפסגת הריאהpancost
3. גידולאולנאריפריפרי .
4. בלוטת לימפה מוגדלת בבית שחי
השאלה מכוונת לצלע צווארית כחלק מה
thoracic outlet syndrome
עם זאת גם פגיעת פנקוסט יכולה לגרום ללחץ על המדיאל קורד של הברכיאל פלקסוס. (אני חושבת שאם היו מכוונים לשם היו נותנים לנו גם תמונה של הורנר)
A primarily neurologic problem may characterize the thoracic outlet syndrome. There is slight wasting and weakness of the hypothenar, interosseous, adductor pollicis, and deep flexor muscles of the fourth and fifth fingers (i.e., the muscles innervated by the lower trunk of the brachial plexus and ulnar nerve). Weakness of the flexor muscles of the forearm may be present in advanced cases. Tendon reflexes are usually preserved. In addition, most patients complain of an intermittent aching of the arm, particularly of the ulnar side, and about half of them complain also of numbness and tingling along the ulnar border of the forearm and hand. A loss of superficial sensation in these areas is variable. It may be possible to reproduce the sensory symptoms by firm pressure just above the clavicle or by traction on the arm. Vascular features are often absent or minimal in patients with the neurologic form of the syndrome.
- Two important nerves emerge from the upper trunk (dorsal scapular nerve to the rhomboid and levator scapulae muscles, and long thoracic nerve to the anterior serratus). The posterior cord gives rise mainly to the radial nerve. The medial cord gives rise to the ulnar nerve, medial cutaneous nerve to the forearm, and medial cutaneous nerve to the upper arm. This cord lies in close relation to the subclavian artery and apex of the lung and is the part of the plexus most susceptible to traction injuries and to compression by tumors that invade the costoclavicular space. The median nerve is formed by the union of parts of the medial and lateral cords.
בן 67 פונה למיון עקב כאב עז באזור הכתף ושריר הטרפז מימין. הכאב מוחמר בשיעול.
בבדיקה: יש קושי לסובב החוצה את הזרוע הימנית והחזר הביצפס מימין מופחת לעומת שמאל.
מה עוד סביר למצוא בבדיקה הגופנית ?
א. החזר טריצפס מופחת
ב. ירידה בתחושה בצד הלטרלי של האמה ובאגודל
ג. חולשה של התחלת האבדוקציה של הזרוע
ד. חולשה ביישור המרפק
ג. חולשה של התחלת האבדוקציה של הזרוע
The fifth cervical root syndrome, produced by disc herniation between the fourth and fifth vertebral bodies, is characterized by pain in the shoulder and trapezius region and by supra- and infraspinatus weakness, manifest by an inability to abduct the arm and rotate it externally with the shoulder adducted (weakness of the supra- and infraspinatus muscles). There may be a slight degree of weakness of the biceps and a corresponding reduction in the reflex, but these are inconsistent findings. A small patch of diminished sensation commonly overlies the deltoid muscle.
Posterior interosseous nerve
the radial nerve continues below the elbow as the posterior interosseous nerve, which innervates the extensor muscles of the wrist and fingers, the main abductor of the thumb (the abductor pollicis longus, which is easier to isolate than the median
nerve innervated abductor pollicis brevis), and the extensors of the fingers at both joints. If the lesion is confined to the posterior interosseous nerve, only the extensors of the wrist and fingers are affected
בת 70 עם הופעה חדשה של
drop foot.
EMG- הפרעת הולכה במספר שרירים
כולל את האנטריור ופוסטריור טיביאליס וכן את הראש הקצר של הבייספס פמוריס.
NCV- עדות להפרעה בעצב הסוראלי.
מהו מקום הפגיעה האפשרי?
1. tibial nerve
2. sciatic nerve
3. common peroneal
4. superficial peroneal
5. L5 root
sciatic nerve
Sciatic Nerve
* Origin L4, L5, S1, S2
* Supplies motor innervation to hamstring muscles
And muscles below the knee via:
The Tibial Nerve and the Peroneal Nerve.
* Conveys sensory information from posterior aspect of thigh
Posterior and lateral aspects of *leg and the entire sole
-
complete sciatic paralysis – knee cannot be flexed, all muscles below knee paralysed.
Weakness of gluteal muscles and pain in the buttock and posterior thigh point to nerve involvement in the pelvis. - If beyond the sciatic notch – sparing of gluteal muscles but not hamstrings
- mostly partial compresisve lesions – peroneal > tibial.
-
Patterns of involvement:
1. L4-L5 disc compressing L5 root:
pain in posterolateral thigh and leg with numbness over
the inner foot and weakness of dorsiflexion of the foot
and toes;
2. LS-Sl disc compressing Sl root:
pain in posterior thigh and leg, numbness of lateral foot, weakness of foot plantar flexion and loss of ankle jerk.
בת 53, חולשה ביד ימין- מתקשה להחזיק ספל, שוללת הפרעה תחושתית, בבדיקה חולשת פלקסיה של ה-
distal interphalangeal joint,
אצבעות 2-3 ופלקסיה של האגודל, ללא הפרעה תחושתית.
EMG- דה נרווציה בשרירים הבאים:
Flexor pollicis longus, flexor digitorum profundus
היכן הפגיעה?
1. Medial cord of brachial plexus
2. Ulnar nerve
3. Anterior interosseous nerve
4. Musculocutaneous nerve
5. Posterior interosseous nerve
Anterior interosseous nerve
(המשכי למדיאן נרב)
שלילת המסיחים האחרים:
-medial cord: combined Median and Ulnar and proximal weakness
- Ulnar Nerve: 4-5th phalanges, Inter Ossei
- Musculocutaneous nerve – Biceps
- Posterior Interosseous Nerve – distal end of radial nerve
מטופל התקבל בתמונה של חולשת כף רגל ימין . בבדיקתו–הפרעהבדורסיפלקציהואברסיה,אינברסיהתקינה. איפה הפגיעה?
א. שורשL5
ב. עצבפרונאלי
ג. עצבטיביאלי
ד. עצבסכיאטי
עצב פרונאלי
Common Peroneal (Fibular) Nerve
Just above the popliteal fossa the sciatic nerve divides into the tibial nerve (medial, or internal, popliteal nerve) and the common peroneal nerve (lateral, or external, popliteal nerve). The latter swings around the head of the fibula to the anterior aspect of the leg, giving off the
* superficial peroneal nerve that provides musculocutaneous branches (to the peroneal muscles) and to the
* deep peroneal nerve (formerly called anterior tibial nerve) supplies the dorsiflexors of the foot and toes (anterior tibialis, extensor digitorum longus and brevis, and extensor hallucis longus muscles) and carry sensory fibers from the dorsum of the foot and lateral aspect of the lower half of the leg.
* There was weakness of dorsiflexion of the foot (footdrop) and Weakness of eversion of the foot is usually demonstrable; because inversion is a function of the L5 root and the tibial nerve, it is
spared in peroneal palsy, thereby allowing a distinction between footdrop at the two sites. (Foot eversion should be tested with the ankle passively dorsiflexed.) Pain is variable.
* Pressure during an operation or sleep or from tight plaster casts, obstetric stirrups, habitual and prolonged crossing of the legs while seated, and tight knee boots are the most frequent causes of injury to the common peroneal nerve. The point of compression of the nerve is where it passes over the
head of the fibula. Emaciation in patients with cancer or AIDS increases the incidence of these types of compressive injuries. The nerve may also be affected in diabetic neuropathy and injured by fractures of the upper end of the fibula. A Baker cyst, which consists of inflamed synovium extending into the retropopliteal space, may compress the nerve, and it may be damaged by muscle swelling or small hematomas behind the knee in asthenic
athletes.
* The prognosis is generally good in cases of partial paralysis.
בן 41 , אלכוהוליסט. לאחר בילוי, נרדם על היד וכשהתעורר לא הצליח ליישר אותה. איזה שריר צפוי
להיפגע?
א. Abductor pollicis longus
ב. Hypothenar muscles
ג. Lumbricals
ד. Pronator teres
Abductor pollicis longus
The radial nerve may be compressed in the axilla (“crutch” palsy), but more frequently at a lower point, where the nerve winds around the humerus
pressure palsies incurred during an alcoholic stupor and fractures of the humerus commonly injure the nerve at the site of injury. It is
susceptible to lead intoxication and is frequently involved as part of brachial neuritis and mononeuritis multiplex.
בן 75 ידוע על כאבי גב עם בלט דיסקלי הלוחץ על שורש הלומברי החמישי.
L5
איזה שריר צפוי להיפגע?
א. Flexor hallucis brevis
ב. Gastrocnemius
ג. Perineal muscles
ד. Tibialis posterior
Tibialis posterior
Patterns of involvement:
1. L4-L5 disc compressing L5 root:
pain in posterolateral thigh and leg with numbness over the inner foot and weakness of dorsiflexion of the foot
and toes;
2. LS-Sl disc compressing Sl root:
pain in posterior thigh and leg, numbness of lateral foot, weakness of foot plantar flexion and loss of ankle jerk.
Lesions of the fifth lumbar root (L5) produce pain in the region of the hip and posterolateral thigh (i.e., sciatica) and, in more than half such cases, lateral calf (to the lateral malleolus), and less often, the dorsal surface of the foot and the first or second and third toes. Pain is elicited by the straight-leg raising test or one of its variants, and protective nocifensive reflexes come into play, limiting further elevation of the leg. Paresthesia may be felt in the entire territory or only in its distal parts. The tenderness is in the lateral gluteal region and near the head of the femur. Weakness, if present, involves the extensors of the big toe and foot and the foot invertors (a distinguishing feature of foot drop originating from peroneal nerve damage, which spares inversion because it is a tibial nerve function). The ankle jerk may be diminished (more often it is normal), but the knee jerk is hardly ever altered.
בת 64 , מתלוננת על חולשה ברגל שמאל בהליכה. בבדיקתה הודגמה חולשה מבודדת באקסטנציה של
הירך ) thigh .)
מהו העצב האחראי על עצבוב השריר הפגוע?
א. Femoral.
ב. Inferior gluteal.
ג. Obturator.
ד. Sciatic
inferior gluteal
בדם הפריפרי אאוזינופיליה בולטת-
Polyarteritis Nodosa
Almost 75 percent of cases of polyarteritis nodosa include involvement of the small nutrient arteries of peripheral nerves, symptomatic form of neuropathy develops in about half this number.
involvement of the peripheral nerves may be the principal or first sign of the disorder, before the main systemic components of the clinical picture—abdominal pain, hematuria, fever, eosinophilia, hypertension, vague limb pains, and asthma.
Although characteristically a disease of multiple discrete mononeuropathies, the syndrome associated with polyarteritis nodosa may appear more or less generalized and symmetrical as a result of the accumulation of many small nerve infarctions; elements of mononeuritis that have been engrafted on an otherwise generalized process. For example, an asymmetrical foot- or wrist-drop or a disproportionate affection of one nerve in a limb, such as ulnar palsy with relative sparing of function of the adjacent median nerve, are clues to the multifocal nature of the process. As often it takes form of random infarctions of two or more individual nerves. The onset is usually abrupt with symptoms of pain or numbness at a focal site along a nerve or in the distal distribution of an affected nerve, followed in hours or days by motor or sensory loss in the distribution of that nerve and then by involvement in a saltatory fashion of other peripheral nerves. Both the spinal and cranial nerves may be affected but far less often than the nerves in the limbs.
The CSF is usually normal.
Nerve biopsy, from the sural nerve, show the necrotizing arteritis in medium-size vessels (fibrinoid necrosis of all 3 coats of the vessel walls), with infiltrating eosinophils and occlusion of vessels. Muscle biopsy may also show perivascular inflammation and necrosis,
On the basis of the smaller size of affected vessels and the presence of perinuclear antinuclear cytoplasmic autoantibodies (p-ANCA), It has been designated as a “microscopic” polyarteritis. Rapidly progressive glomerulonephritis and lung hemorrhage are the additional features of the latter disease, neuropathy occurring somewhat less frequently than in typical polyarteritis.
Treatment Based on the response to the systemic vasculitides with ANCA activity, mononeuritis multiplex caused by vasculitis has been treated with corticosteroids and either rituximab 375 mg/m2 weekly for 4 weeks, or cyclophosphamide 1 g/m2 intravenously once a month for several months,
corticosteroids alone are often inadequate, Azathioprine is a reasonable alternative if cyclophosphamide is not tolerated.
Treatment usually must be continued for at least several months. In intractable cases and in those with systemic involvement, treatment with methotrexate may be indicated, or this may be used initially. Spontaneous remission and therapeutic arrest are known, but many cases have a fatal outcome from kidney and systemic complications. The infarctive nerve palsies and sensory loss of the mononeuropathies generally persist to a large degree even when the systemic disease is brought under control.
גלומרולונפריטיס
Polyarteritis Nodosa
Almost 75 percent of cases of polyarteritis nodosa include involvement of the small nutrient arteries of peripheral nerves, symptomatic form of neuropathy develops in about half this number.
involvement of the peripheral nerves may be the principal or first sign of the disorder, before the main systemic components of the clinical picture—abdominal pain, hematuria, fever, eosinophilia, hypertension, vague limb pains, and asthma.
Although characteristically a disease of multiple discrete mononeuropathies, the syndrome associated with polyarteritis nodosa may appear more or less generalized and symmetrical as a result of the accumulation of many small nerve infarctions; elements of mononeuritis that have been engrafted on an otherwise generalized process. For example, an asymmetrical foot- or wrist-drop or a disproportionate affection of one nerve in a limb, such as ulnar palsy with relative sparing of function of the adjacent median nerve, are clues to the multifocal nature of the process. As often it takes form of random infarctions of two or more individual nerves. The onset is usually abrupt with symptoms of pain or numbness at a focal site along a nerve or in the distal distribution of an affected nerve, followed in hours or days by motor or sensory loss in the distribution of that nerve and then by involvement in a saltatory fashion of other peripheral nerves. Both the spinal and cranial nerves may be affected but far less often than the nerves in the limbs.
The CSF is usually normal.
Nerve biopsy, from the sural nerve, show the necrotizing arteritis in medium-size vessels (fibrinoid necrosis of all 3 coats of the vessel walls), with infiltrating eosinophils and occlusion of vessels. Muscle biopsy may also show perivascular inflammation and necrosis,
On the basis of the smaller size of affected vessels and the presence of perinuclear antinuclear cytoplasmic autoantibodies (p-ANCA), It has been designated as a “microscopic” polyarteritis. Rapidly progressive glomerulonephritis and lung hemorrhage are the additional features of the latter disease, neuropathy occurring somewhat less frequently than in typical polyarteritis.
Treatment Based on the response to the systemic vasculitides with ANCA activity, mononeuritis multiplex caused by vasculitis has been treated with corticosteroids and either rituximab 375 mg/m2 weekly for 4 weeks, or cyclophosphamide 1 g/m2 intravenously once a month for several months,
corticosteroids alone are often inadequate, Azathioprine is a reasonable alternative if cyclophosphamide is not tolerated.
Treatment usually must be continued for at least several months. In intractable cases and in those with systemic involvement, treatment with methotrexate may be indicated, or this may be used initially. Spontaneous remission and therapeutic arrest are known, but many cases have a fatal outcome from kidney and systemic complications. The infarctive nerve palsies and sensory loss of the mononeuropathies generally persist to a large degree even when the systemic disease is brought under control.
- Chrug Strauss:
Eosinophils
Involves the lung and skin
-rhinitis and asthma
Neuropathy – commonly presents
As acute, painful, mononeuritis multiplex
C-ANCA
Eosinophilic infiltration more pronounced than PAN
בן 67, קשי בהליכה, מחמירה במהלך של חודש. צניחה של כף הרגל מימין וחולשת אקסטנסורית של כף יד שמאל. החזרים ירודים. איזו מהממצאים הבאים יכול לגרום להפרעה זו:
- Polyarteritis nodosa
- Diphteric neuropathy
- GBS
- Nutritional neuropathy
- Porphyric neuropathy
- Polyarteritis nodosa
Polyarteritis Nodosa
Almost 75 percent of cases of polyarteritis nodosa include involvement of the small nutrient arteries of peripheral nerves, symptomatic form of neuropathy develops in about half this number.
involvement of the peripheral nerves may be the principal or first sign of the disorder, before the main systemic components of the clinical picture—abdominal pain, hematuria, fever, eosinophilia, hypertension, vague limb pains, and asthma.
Although characteristically a disease of multiple discrete mononeuropathies, the syndrome associated with polyarteritis nodosa may appear more or less generalized and symmetrical as a result of the accumulation of many small nerve infarctions; elements of mononeuritis that have been engrafted on an otherwise generalized process. For example, an asymmetrical foot- or wrist-drop or a disproportionate affection of one nerve in a limb, such as ulnar palsy with relative sparing of function of the adjacent median nerve, are clues to the multifocal nature of the process. As often it takes form of random infarctions of two or more individual nerves. The onset is usually abrupt with symptoms of pain or numbness at a focal site along a nerve or in the distal distribution of an affected nerve, followed in hours or days by motor or sensory loss in the distribution of that nerve and then by involvement in a saltatory fashion of other peripheral nerves. Both the spinal and cranial nerves may be affected but far less often than the nerves in the limbs.
The CSF is usually normal.
Nerve biopsy, from the sural nerve, show the necrotizing arteritis in medium-size vessels (fibrinoid necrosis of all 3 coats of the vessel walls), with infiltrating eosinophils and occlusion of vessels. Muscle biopsy may also show perivascular inflammation and necrosis,
On the basis of the smaller size of affected vessels and the presence of perinuclear antinuclear cytoplasmic autoantibodies (p-ANCA), It has been designated as a “microscopic” polyarteritis. Rapidly progressive glomerulonephritis and lung hemorrhage are the additional features of the latter disease, neuropathy occurring somewhat less frequently than in typical polyarteritis.
Treatment Based on the response to the systemic vasculitides with ANCA activity, mononeuritis multiplex caused by vasculitis has been treated with corticosteroids and either rituximab 375 mg/m2 weekly for 4 weeks, or cyclophosphamide 1 g/m2 intravenously once a month for several months,
corticosteroids alone are often inadequate, Azathioprine is a reasonable alternative if cyclophosphamide is not tolerated.
Treatment usually must be continued for at least several months. In intractable cases and in those with systemic involvement, treatment with methotrexate may be indicated, or this may be used initially. Spontaneous remission and therapeutic arrest are known, but many cases have a fatal outcome from kidney and systemic complications. The infarctive nerve palsies and sensory loss of the mononeuropathies generally persist to a large degree even when the systemic disease is brought under control.
על המסיחים האחרים
* Diphteric- עצבים קרניאליים ,בולבארי הפרעה באקומודציה טישטוטש ראייה מתחיל שבוע אחרי
* Porhyric :A severe, rapidly advancing, more or less symmetrical and mainly motor polyneuropathy—often with abdominal pain, psychosis (delirium or confusion), or convulsions— may be a manifestation of acute intermittent porphyria. disease can be identified after some time by its characteristic recurrent attacks, often precipitated by drugs such as sulfonamides, griseofulvin, estrogens.
בחולה עם כאבי שרירים בוצעה ביופסיית שריר שהראתה
non-caseating granuloma.
איזו בדיקה נוספת תחזק את האבחנה?
1. רמת סידן בדם
2. ACE
3. PET CT
4. EMG
5. כל התשובות נכונות
- כל התשובות נכונות
הטבלה לא נמצאת במהדורה האחרונה של אדאמס אבל היא טובה
sarcoid
- CSF in Sarcoid:
A slight lymphocytic pleocytosis (10 to 200 cells/mm3) and a moderate increase in protein content (generally without oligoclonal bands), consistent with meningeal
involvement are the usual CSF findings but many cases show no change.
קצת על המסיחים האחרים
-
Behcet:
* Chronic recurrent vasculitis – involving small vessels
* m>f
* Originally triad of: relapsing iridocyclitis, recurrent oral and genital ulcers
* Systemic features: erythema nodosum, thrombophlebitis, polyarthritis, UC.
* Diagnostic criteria: recurrent apthous or herpetiform oral ulceration, recurrent genital ulceration, anterior or posterior uveitis, cells in vitreous or retinal vasculitis, erythema nodosum.
* 30% CNS involvement
* CNS manifestations: Meningoencephalitis, CN palsies (6ht most common), cerebellar ataxia, corticospinal tract signs, venous occlusion.
* CSF – pleocytosis, protein elevated, glucose normal
* CNS clears , but may recur
* Treat with steroids. -
Lyme: Burrelia Burgdorferi
* Acute radicular pain, followed by chronic lymphocytic meningitis and frequently accompanied by peripheral and cranial neuropathies.
* In USA - initial manifestation erythema migrans, fatigue, myalgia, arthralgia, headache.
* European variant – painful lymphocytic meningoradiculitis. Bannwarth syndrome
* CNS – aseptic meningitis or fluctuating meningoencephalitis with CN or peripheral nerve involvement lasting months
* Caridac involvement – myocarditis, pericarditis, AV block.
* CSF – count 50-3000, protein levels 75-400,glucose NAD.
* ELISA – IgM response followed by IgG. PCR
* Doxycycline if early treatment, later - Ceftriaxone - leptomeningeal metastases (carcinomatous meningitis), neoplastic cells extend throughout the leptomeninges and involve cranial and spinal nerve roots, producing a picture of meningoradiculitis with normal or low CSF glucose values.
מטופל עם שיתוק של מספר עצבים קרניאלים, היה ממצא קולט האדרה בהדמייה.
נלקחה ביופסיה מבלוטת לימפה אשר הציגה תאי ענק
giant cells
מה האבחנה?
1. סרקואיד
2. ליים
3. טוקסופלזמה
סרקואיד
The essential lesion in sarcoidosis consists of focal collections of epithelioid cells surrounded by a rim of Lymphocytes; frequently there are giant cells, but caseation is lacking. The sarcoid, noncaseating granuloma may be found in all organs and tissues, including the nerve roots, peripheral, and central nervous systems, but the most frequently involved are the mediastinal and peripheral lymph nodes, lungs, liver, skin, phalangeal bones, eyes, and parotid glands.
* isolated sarcoid granulomas may involve peripheral or cranial nerves, subacute or chronic polyradiculopathy, neuropathy, or plexopathy of asymmetrical type.
* Polyneuropathy may occur, but is infrequent
* Of the cranial nerves, the facial is the most frequently involved The facial palsy may be unilateral or bilateral.
* Blindness, uveitis and optic neuropathy.
* Myopathy
* In the CNS, sarcoidosis takes the form of a granulomatous infiltration of the meninges and underlying Parenchyma, most frequent at the base of the circumscribed lesion of the stalk of the pituitary gland, optic chiasm, and hypothalamus, it causes visual disturbances, polydipsia, polyuria, or somnolence.
* Hydrocephalus, seizures, palsies, and corticospinal and cerebellar signs are other occasional manifestations.
* Rarely, sarcoid can be a cause of a chronic recurrent or persistent meningitis, or severe, steroid-responsive headache.
* Granulomas may present as a mass or as one or more focal infiltrating cortical and subcortical lesions that tend to follow the course of superficial cortical veins.
* cerebral signs, including seizures, presumably caused by deposits of sarcoid in the brain, are observed but are uncommon. Among the odd focal syndromes reported are an amnestic or dementing condition from infiltration of the medial temporal lobes and psychotic and related behavioral aberrations. In addition to this leptomeningitis, there is an infiltration of the dura, a pachymeningitis.
* The spinal meninges and spinal cord may be infiltrated, usually independently of brain involvement, imparting a picture of chronic adhesive arachnoiditis or an inflammatory Myelopathy. There is more prominent focal contrast enhancement and T2 signal abnormality on MRl than is usual for a demyelinating disease. It is one of the causes of a “longitudinally extensive myelopathy“.
* Diagnosis A slight lymphocytic pleocytosis (10 to 200 cells/mm3) and a moderate increase in protein content (generally without oligoclonal bands), consistent with meningeal involvement are the usual CSF findings but many cases show no change. The glucose content is normal or slightly reduced. The spinal form may be associated with CSF block and a resultant greatly raised protein content. The diagnosis of neurosarcoidosis is made on the basis of the clinical features together with clinical and biopsy evidence of sarcoid granulomas in other tissues (lymph nodes, lungs, bones, uvea, skin, and muscle). The history or presence of erythema nodosum or iritis further raises suspicion of this process. If a conventional chest radiograph does not disclose the characteristic bilateral hilar adenopathy of sarcoidosis, a thoracic CT scan may be obtained. In patients in whom the clinical suspicion remains high, positron emission tomography (PET) scanning may be useful to identify inflamed lymph nodes that are amenable to biopsy. The contrast-enhanced CT or MRI are useful means
of detecting meningeal involvement and MRI may disclose periventricular and white matter lesions, although the latter pattern is usually not at all specific.
בן 61 , עם שיתוק שרירי הפנים מימין ולאחר שבועיים גם שיתוק של שרירי הפנים משמאל . בבדיקתו ללא קשיון עורף, יש חולשת שרירי פנים דו”צ, ללא חולשה בגפיים, החזרים מופקים בכל התחנות,
תחושה תקינה. בלוטות הפרוטיד מוגדלות .
מהי האבחנה הסבירה ביותר?
א. Guillain Barre Syndrome
ב. Mononucleosis
ג. Mumps
ד. Sarcoidosis
סרקואידוזיס.
כשבלוטת הפרוטיד גדולה ויש שיתוק אקוטי של שרירי הפנים דו”צ זה נקרא-
HERFORD SYNDROME =UVEOPAROTID SYNDROME
נוכחות של
conduction block
תשלול
hereditary sensory and autonomic neuropathy
Mutilating Hereditary (Dominant) Sensory Polyneuropathy in Adults (Hereditary Sensory and Autonomic Neuropathy Type 1)
The characteristic features of this group of polyneuropathies are an autosomal dominant mode of inheritance and onset of symptoms in the second decade or later. Characteristically this begins with subtle loss of sensation for painful stimuli in the feet (e.g., inability to feel the hot sand or hot water in a tub). As the disease evolves, there is involvement of the feet with calluses of the soles and, later, episodes of blistering, ulceration, and lymphangitis followed by osteomyelitis and osteolysis, shooting pains, distal sensory loss with greater affection of pain and thermal sensation than of touch and pressure, loss of sweating, diminution or absence of tendon reflexes, and only slight loss of muscle power. Over time, loss of pain sensation in the fingers leads to fingertip ulcerations, osteomyelitis, and amputations. Some patients have a mild pes cavus and weakness of the peroneal and pretibial muscles, with foot-drop and steppage gait. Lancinating pains may occur in the legs, thighs, and shoulders, and, exceptionally, the pain may last for days or longer and be as disabling as that of tabes dorsalis; however, in the majority of patients there is no pain whatsoever. Neural deafness was present in one of Denny-Brown’s patients. In that case, which was studied postmortem, there was a loss of small nerve cells in the lumbosacral dorsal root ganglia; the dorsal roots were thin, and the fibers in the posterior columns of the spinal cord and those in the peripheral nerves were diminished in number. Myelinated and unmyelinated fibers were both affected. Both axonal degeneration and segmental demyelination have been demonstrated in teased nerve preparations. Sensory nerve conduction may be absent or is uniformly slowed in every nerve tested.
It must be emphasized that despite its categorization as a “sensory and autonomic neuropathy;” the most common, dominantly inherited form, termed HSAN1, also entails progressive, disabling, distal motor weakness, a consequence of ongoing axonopathy and denervation. HSAN1 is a consequence of a loss of function of the
enzyme serine palmitoyltransferase, which is the rate limiting step in the biosynthesis of sphingolipids.
מה לא גורם לעיבוי עצביםפריפרים?
1. CMT
2. leprosy
3. refsum
4. porphyria
פורפיריה לא גורמת להגדלת עצבים פריפרים
בן 33 , מעברו ארועים חוזרים של כאבי בטן , פסיכוזה. לפני חודש פרכוס בגינו טופל בפניטואין. פנה
עקב חולשה מתקדמת בגפיים תוך ימים. בבדיקתו חולשה בידיים יותר מרגליים, היעדר החזרים.
איזה בדיקת עזר תקדם את האבחנה?
א. דיקור מותני
ב. MRI מוח
ג. חשיפת שתן לאור
ד. בדיקת הולכה עצבית
חשיפת שתן לאור-
פורפיריה
נקודות מפתח – כאבי בטן ,פסיכוזה ,החמרה על פניטואין ,חולשה מתקדמת
אבחנה-
הימצאות פורפובילינוגן וחומצה אמינולובוליניק בשתן, כמו כן השתן נהיה שחור עקב חמצון הפורפובילינוגן.
בחור צעיר עם שבץ, קרדיומיופתיה, כאבים עזים בחום, נגעים בבטן. מה הטיפול
1. דיאטה
2. סטרואידים
3. אנזים תחליפי
4. שתיה מרובה
אנזים תחליפי
מדובר בפברי
Fabry :
* X linked recessive,
* Alpha-Galactosidase,
* accummulation of Ceramide in endothelial, smooth muscle of blood vessels , renal tubular, viscera and nerve cells.
* Clinical: lancinating pains worse in hot weather, fever, exercise.
Diffuse vascular involvement: HTN, renal damage, cardiomegaly, MI – thrombotic infarctions.
characteristic angiokeratomas.
* Rx – enzyme replacement
בחור צעיר עם שבץ, קרדיומיופתיה, כאבים עזים בחום. נגעים בבטן ובאשכים. איזה אנזים פגוע?
1. alpha galactosidase
2. glucocerebrosidase
alpha galactosidase- Fabry
Fabry :
* X linked recessive,
* Alpha-Galactosidase,
* accummulation of Ceramide in endothelial, smooth muscle of blood vessels , renal tubular, viscera and nerve cells.
* Clinical: lancinating pains worse in hot weather, fever, exercise.
Diffuse vascular involvement: HTN, renal damage, cardiomegaly, MI – thrombotic infarctions.
characteristic angiokeratomas.
* Rx – enzyme replacement
קצת על המסיח האחר- מחלת גושה
1)Gaucher
* AR disease
* Infantile presentation- Occulumotor apraxia , bilateral strabismus, rapid developmental delay.
* Increase in serum acid phosphatase and characteristic histiocytes (Gaucher Cells) in biopsy.
* Deficiency of glucocerebrosidase in leukocytes and hepatocytes is diganostic
* Gaucher Cells – wrinkled appearance of cytoplasm and eccentricity of nucleus – accummulate in marrow, lungs, other viscera
* Loss of neurons
* Highyl diagnostic – defect in voluntary gaze with normal doll’s eyes maneuver. (in Nieman Pick – vertical eye movements lost) .
2) Late Infantile and Early Childhood Gaucher Disease
As stated earlier, Gaucher disease usually develops in early infancy, but some cases, so-called Gaucher disease type Ill, may begin in childhood, between 3 and 8 years of age. The clinical picture is variable and combines features of infantile Gaucher disease-such as abducens palsies, dysphagia, trismus, rigidity of the limbs, and dementia with features of the late childhood-€arly adult form, such as palsies of horizontal gaze, diffuse myoclonus, generalized seizures, and a chronic course. The diagnosis is established by the finding of splenomegaly, Gaucher cells, glucocerebroside storage, and deficient activity of glucocerebrosidase in leukocytes or cultured fibroblasts.
3) Late Gaucher Disease With Polymyoclonus A type of Gaucher disease is occasionally encountered in which seizures, severe diffuse myoclonus, supranuclear gaze disorders (slow saccades, saccadic and pursuit horizontal gaze palsies), and cerebellar ataxia begin in late childhood, adolescence, or adult life. The course is slowly Progressive. The intellect is relatively spared. The spleen is enlarged. The pathologic and biochemical abnormalities are the same as those of Gaucher disease of earlier onset.
Long thoracic nerve
This nerve is derived from the fifth, sixth, and seventh cervical nerves and supplies the serratus anterior muscle, which fixates the lateral scapula to the chest wall.
Paralysis of this muscle results in an inability to raise the arm over the head and winging of the medial border of the scapula when the outstretched arm is pushed forward against resistance. The nerve is injured most commonly by carrying heavy weights on the shoulder or by strapping the shoulder to the operating table.
קצת על המסיח השני-
Suprascapular Nerve
This nerve is derived from the fifth (mainly) and sixth cervical nerves and supplies the supraspinatus and infraspinatus muscles. Lesions may be recognized by the presence of atrophy of these muscles and weakness of the first 15 degrees of abduction (supraspinatus) and of external rotation of the arm at the shoulder joint (infraspinatus). The latter muscle is tested by having the patient flex the forearm and then, pinning the elbow to the side, asking him to swing the forearm backward against resistance. This nerve is often involved as a result of a herniated CS-C6 disc or as part of a brachial plexus Neuropathy of either the sporadic or inherited type. It may be affected during infectious illnesses and may be injured in gymnasts, or as a result of local pressure from carrying heavy objects on the shoulder (“meatpacker’s neuropathy”)
איזו פגיעה לא תעשה
winging scapula
1. long thoracic nerve
2. axillary nerve
3. C5-C6 nerve roots
4. Dorsal scapular nerve
** Axillary nerve**
Axillary Nerve
This nerve arises from the posterior cord of the brachial plexus (mainly from the C5 root, with a smaller contribution from C6) and supplies the teres minor and deltoid muscles. It may be involved in dislocations of the shoulder joint, fractures of the neck of the humerus, disc protrusion, and brachial neuritis; in other instances, no cause may be apparent. The anatomic diagnosis depends on recognition of paralysis of abduction of the arm (in testing this function, the angle between the side of the chest and the arm
must be greater than 15 degrees and less than 90 degrees), wasting of the deltoid muscle, and slight impairment of sensation over the outer aspect of the shoulder.
קצת על המסיחים האחרים
- The dorsal scapular nerve provides motor innervation to the rhomboid major and rhomboid minor muscles. In addition, it supplies the levator scapulae muscle along with the branches arising from spinal nerves C3 and C4. The rhomboids serve to pull the scapula posteriorly medially towards the vertebral column, while the levator scapulae elevates the scapula.
-
Long Thoracic Nerve (of Bell)
This nerve is derived from the fifth, sixth, and seventh cervical nerves and supplies the serratus anterior muscle, which fixates the lateral scapula to the chest wall.
Paralysis of this muscle results in an inability to raise the arm over the head and winging of the medial border of the scapula when the outstretched arm is pushed forward against resistance.
Weakening of the muscles that fix the scapulae to the thorax (serratus anterior, lower trapezius, rhomboids) causes winging of the scapulae,
winging of scapula
בהושטת הידיים הצידה
A complete lesion of the accessory nerve results in weakness of the sternocleidomastoid muscle and upper part of the trapezius (the lower part of the trapezius is innervated by the third and fourth cervical roots through the cervical plexus). Weakness can be demonstrated by asking the patient to shrug his shoulders; the affected side will be found to be weaker, and there will often be evident atrophy of the upper part of the trapezius. With the arms at the sides, the shoulder on the affected side droops and the scapula is slightly winged; the latter defect is accentuated with lateral movement of the arm (with serratus anterior weakness, winging of the scapula is more prominent and occurs on forward elevation of the arm). When the patient turns his head forcibly against the examiner ‘s
hand, preferably starting with the head deviated to the opposite side, the sternocleidomastoid of the opposite side does not contract firmly beneath the fingers.
בן 32 פנה עקב פגיעה בעצב קרניאלי 11 מצד ימין.
Acessory nerve
איזה ממצא אופייני בבדיקתו?
א. חולשה בסיבוב הראש לצד האיפסילטרלי לפגיעה
ב. בליטה של סקפולה בעת הרמת ידיים לצדדים
ג. חולשה בהרמת הכתף בצד הקונטרהלטרלי לפגיעה
ד. הפרעה תחושתית בחלק אחורי של קרקפת ועורף
בליטה של סקופלה בעת הרמת ידיים לצדדים
צעיר עם פציעה חודרת לכתף. קושי בהתחלת אבדוקציה של היד ובסיבוב הכתף החוצה. שאר תנועות ושרירי היד תקינים. היכן הפגיעה?
1. brachial plexus
2. suprascapular nerve
3. posterior interosseus nerve
4. long thoracic nerve
supra scapular nerve
Suprascapular Nerve
This nerve is derived from the fifth (mainly) and sixth cervical nerves and supplies the supraspinatus and infraspinatus muscles. Lesions may be recognized by the presence of atrophy of these muscles and weakness of the first 15 degrees of abduction (supraspinatus) and of external rotation of the arm at the shoulder joint (infraspinatus). The latter muscle is tested by having the patient flex the forearm and then, pinning the elbow to the side, asking him to swing the forearm backward against resistance. This nerve is often involved as a result of a herniated CS-C6 disc or as part of a brachial plexus Neuropathy of either the sporadic or inherited type. It may be affected during infectious illnesses and may be injured in gymnasts, or as a result of local pressure from carrying heavy objects on the shoulder (“meatpacker’s neuropathy”)
קצת על המסיחים האחרים-
* brachial plexus- would expect more extensive disability
* PIN- extension of radial nerve (C7-C8) in charge of supination and extension of wrist and fingers
* long thoracic- serratus anterior muscle. will cause winged scapula
מכור להרואין הגיע למיון עם תלונה של כאב בכתף ולאחר מס’ ימים חולשה בדלטואודי
ביספס וטריספס. החזרי ביספס וטריספס מוחלשים. מה האבחנה?
1. ברכיאל נויריטיס
2. פריצת דיסק C6-C7
ברכיאל נויריטיס= parsonage turner
Parsonage Turner
This illness develops abruptly in an otherwise healthy individual; it may also complicate an infection, an injection of vaccine or antibiotic, childbirth, surgical procedures of any type, or the use of heroin.
Beginning as an ache or deep burning in and around the shoulder that is centered over the deltoid, at the root of the neck or in the axilla, and suspected at first of being only a muscle strain, the pain rapidly becomes very intense and may include a component of burning. The onset can be remarkably abrupt and occasionally awakens the patient from sleep. It is made worse by movements that involve the muscles in the region and the patient searches for a comfortable position. Narcotics are usually required to suppress the pain. After a period of several days there is a rapid development of muscular weakness and thereafter, sensory and reflex impairment. With the development of weakness, the pain begins to subside.
Most of the neurologic deficits in our patients have been localized around the shoulder and upper arm. Either the biceps or triceps reflex may be abolished. In a few cases there has been an additional median, radial, anterior, or posterior interosseous nerve palsy that can be detected and isolated by EMG to a site distal to the plexus.
Recovery of paralysis and restoration of sensation are usually complete in 6 to 12 weeks, but sometimes not for a year or longer.
מה הבאים אינו חלק מההתייצגות של
Bassen- Kornzweig disease
1. elevated levels of LDL and cholesterol
2. low levels of vitamin E
3. changes of the erythrocyte membrane
4. low ESR
- elevated levels of LDL and cholesterol
אינם חלק מבאסן קורנזוויג המוכר גם כ-
abetalipoproteinemia
The initial symptoms, occurring between 6 and
12 years (range: 2 to 20 years), are weakness of the limbs with areflexia and ataxia of sensory (tabetic) type, to which a cerebellar component is added later. Steatorrhea, raising the suspicion of celiac disease (sprue), often precedes the appearance of a weak and unsteady gait. Later, in more than half the patients,
vision may fail because of retinal degeneration (similar to retinitis pigmentosa). Kyphoscoliosis, pes cavus, and Babinski signs are other elements in the clinical picture. The neurologic disorder is relatively slowly progressive-by the second to third decade, the patient is usually bedridden.
The diagnostic laboratory findings are spiky or thorny red blood cells (acanthocytes), low sedimentation rate, and a marked reduction in the serum of low density lipoproteins (LDL cholesterol, phospholipid, and ,beta-lipoprotein levels are all subnormal). Pathologic study has revealed the presence of foamy, vacuolated epithelial cells in the intestinal mucosa (causing absorption block);
diminished numbers of myelinated nerve fibers in sural nerve biopsies, depletion of Purkinje and granule cells in all parts of the cerebellum; loss of fibers in the posterior columns and spinocerebellar tracts; loss of anterior horn and retinal ganglion cells and of muscle fibers and fibrosis of the myocardium.
בן 15 עם חולשה פרוגרסיבית בגפיים וכן צואה שומנית בשנתיים האחרונות.
steatorrhea
בבדיקתו: חולשה משמעותית ב4 גפיים, לא הופקו החזרים, בבינסקי חיובי דו”צ, אטקסיה סנסורית וצרבלרית,
PES CAVUS.
מה יממצא בבירור?
1. Hypercholesterolemia
2. Aryl sulfatase deficiency
3. Low levels of low density lipoproteins
4. elevated levels of cholesterol and cholestanol
5. elevated levels of very long chain fatty acis
Low levels of low density lipoproteins
Bassen Kornzweig – Abetalipoproteinemia
The initial symptoms, occurring between 6 and
12 years (range: 2 to 20 years), are weakness of the limbs with areflexia and ataxia of sensory (tabetic) type, to which a cerebellar component is added later. Steatorrhea, raising the suspicion of celiac disease (sprue), often precedes the appearance of a weak and unsteady gait. Later, in more than half the patients,
vision may fail because of retinal degeneration (similar to retinitis pigmentosa). Kyphoscoliosis, pes cavus, and Babinski signs are other elements in the clinical picture. The neurologic disorder is relatively slowly progressive-by the second to third decade, the patient is usually bedridden.
The diagnostic laboratory findings are spiky or thorny red blood cells (acanthocytes), low sedimentation rate, and a marked reduction in the serum of low density lipoproteins (LDL cholesterol, phospholipid, and ,beta-lipoprotein levels are all subnormal). Pathologic study has revealed the presence of foamy, vacuolated epithelial cells in the intestinal mucosa (causing absorption block);
diminished numbers of myelinated nerve fibers in sural nerve biopsies, depletion of Purkinje and granule cells in all parts of the cerebellum; loss of fibers in the posterior columns and spinocerebellar tracts; loss of anterior horn and retinal ganglion cells and of muscle fibers and fibrosis of the myocardium.
שאר המסיחים-
2.Metachromatic Leukodystrophy
3.Bassen Kornzweig
4.Cerebrotendinous Xanthomatosis
5.Adrenoleukodystrophy
אובדן מיאלין פרוקסימלי
CMT- Degenerative changes in the nerves result in depletion of the population of large sensory and motor fibers, leaving only the condensed endoneuria! connective tissue. As far as one can tell, axons and myelin sheaths are both affected, the distal parts of the nerve more than the proximal ones. In type I, the nerves may be enlarged, with “onion-bulb“ formations of Schwann cells and fibroblasts, as in Dejerine-Sottas disease (CMT3; type III HMSN in the Dyck classification). This change can often be seen in sural nerve biopsies. **Anterior horn cells are slightly diminished in number **and some are chromatolyzed as a secondary change. Dorsal root ganglion cells suffer a similar fate. The disease **involves sensory posterior root fibers with degeneration of the posterior columns of Goll more than of Burdach. The autonomic nervous system remains relatively intact.
The muscles contain large fields of atrophic fibers (group atrophy). Some of the larger fibers have a target appearance and may show degenerative changes. All these muscle changes are typical of neurogenic denervation
עוד מידע
CMT
Clinical features
The early symptoms of childhood clumsiness and athletic imprecision are listed previously, to which are added foot deformities of high arches and hammer toes. There may have been ankle fractures, foot-drop, medical plantar foot calluses and a need for podiatric treatment at an early age, painless or foot ulcers. In adolescence, an “inverted champagne bottle” appearance of the forelegs may become apparent. The typical case of CMT has its onset during late childhood or adolescence, CMT1 cases usually make their appearance during the first decade while the peak age of onset of CMT2 is in the second. Both motor and sensory signs more severe in the first type*.
separation of the main subtypes on the basis of their electrophysiologic (EMG) features and the discovery of genetic mutations that cause most of these diseases.
most common type was the typical demyelinating variety of Charcot-Marie-Tooth disease (CMT1A, 17p duplication),
The chronic degeneration of peripheral nerves and roots results in distal muscle atrophy beginning in the feet and legs and later involving the hands. The extensor hallucis and digitorum longus, the peronei, and the intrinsic muscles of the feet are affected early in life and this muscle imbalance produces the bony changes of pes cavus and pied en griffe (high arches and hammertoes). Later, all muscles of the legs and sometimes the lower third of the thigh become weak and atrophic. The thin legs have been likened to those of a stork or, if the lower thigh muscles are affected, to an inverted champagne bottle. Eventually the nerves to the calf muscles degenerate and the ability to plantar flex the feet is lost. After a period of many years, atrophy of the hand and forearm muscles develops in some cases. The hands later become clawed. The wasting seldom extends above the elbows or above the middle third of the thighs. Paresthesias and cramps are present but only to a slight degree and there is always some impairment, usually also mild, of deep and superficial sensation in the feet and hands, shading off proximally. Rarely, the sensory loss is severe and perforating ulcers appear as they do in the pure sensory varieties of inherited neuropathy. The tendon reflexes are absent in the involved limbs. The Walking difficulty, which is ultimately the main disability, is caused by a combination of sensory ataxia and weakness. Foot-drop and instability of the ankles are additional handicaps pain is unusual; the feet may become cool, swollen, and blue, secondary to inactivity of the muscles of the feet and legs and their dependent position.
The only distinguishing clinical feature between types 1 and 2, enlargement of the nerves in type 1, most easily appreciated by palpation of the greater auricular and peroneal nerves.
the X- linked variant of CMT is the result of a mutation of the gene for connexin-32, another component of myelin (GJB1= connexin). it is X linked Dominant
בן 37 עם מחלה כרונית מתלונן על הפרעה בהליכה . בהליכה הוא מרים את רגליו גבוה בכל צעד ונשמע
רעש כאשר כל רגל נוגעת ברצפה. בעמידה עם שתי רגליו צמודות , ידיים קדימה ועיניים עצומות , הוא לא
נופל. באיזה מחלה אפשר לקבל הליכה כזאת?:
א. Charcot-Marie-Tooth disease
ב. Multiple sclerosis
ג. Severe disc herniation L5/S1
ד. Tabes dorsalis
Charcot-Marie-Tooth disease
אנורקטית עם חולשה פרונאלית. מה הסיבה?
1. דמם באיליופסואס עקב חסר בויטמין K
2. הליכה ממושכת
3. לחץ על הפרונאל
לחץ על הפרונאל
אצל נערה עם אנורקסיה נרווזה הופיעה צניחת כף רגל. מה הסיבה הסבירה ביותר מבין הבאות?
1. הליכה ממושכת
2. נוירופתיה פמורלית עקב דימום בפסואס על רקע חסר ויטמין K
3. חסר ויטמין B12
4. נוירופתיה על רקע לחץ פרונאלי באזור ראש הפיבולה
5. חסר ויטמין B1
- נוירופתיה על רקע לחץ פרונאלי באזור ראש הפיבולה
compression neuropathy due to loss of fat pad
בן 55 נרדם במטוס בטיסה לארה”ב כאשר רגל ימין הייתה מונחת מכופפת על ירך שמאל והתעורר עם נימול בכף הרגל וחוסר יכולת להרים את כף הרגל והאצבעות מעלה. מה סביר שתמצא בבדיקה האלקטרופיזיולוגית שלו למחרת נחיתתו
1. signs of denervations in the Tibialis posterior muscle
2. conduction block in the peroneal nerve at the fibular head
3. conduction block in the tibial nerve
4. denervation of the paraspinal muscles in a needle EMG
5. lack of sensory response at the saphenous nerve
- conduction block in the peroneal nerve at the fibular head
compression neuropathy
T/F
Tangier disease shows pseudosyringomyelia
True
Tangier Disease (ABC1 Mutation)
This is a rare, familial, small fiber neuropathy, inherited as an autosomal recessive trait. The mutation eliminates the function of the adenosine triphosphate (ATP)cassette
transporter protein, ABC1. It results in a deficiency of high density lipoprotein, extremely low serum cholesterol, and high triglyceride concentrations in the serum. Perhaps on the basis of these abnormalities, the patients are disposed to early and severe atherosclerosis. The presence of enlarged,yellow-orange (cholesterol laden) tonsils is said to be a frequent manifestation (of course, previous tonsillectomies obviate this sign). About half of the reported cases have had neuropathic symptoms, taking the form of an asymmetrical sensorimotor neuropathy that fluctuates in severity.
The sensory loss is predominantly for pain and temperature and extends over the entire body; at times it is limited to the face and upper extremities, simulating syringomyelia (“pseudosyringomyelia”). Tactile and proprioceptive sensory modalities tend to be preserved. The polyneuropathy may come in attacks—that is to say, it simulates a recurrent process. Muscular weakness, if present, affects either the lower or upper extremities or both, particularly the hand muscles, which may undergo atrophy and show denervation by EMG. In a small number of patients there has been facial diplegia
out of proportion to weakness elsewhere. Tendon reflexes are often lost or diminished. Transient ptosis and diplopia have been reported. Nerve conduction is slowed.
Fat laden macrophages are present in the bone marrow and elsewhere. No complete pathologic studies are available. There is no known treatment but dietary measures to reduce triglycerides may help, particularly in preventing atherosclerosis but the influence on the neuropathy is uncertain.
