Neuro3 - Pathology

Question 1

dizziness (CN 8) ; disarthria (CN 9, 10, 11, 12) ; disphagia (CN 10) ; diplopia (CN 3, 4, 6) ; bilateral involvement, crossed findings, ipsilateral (if cerebellar) ; alteration in consciousness ;

Answer 1

Clinical manifestations of brainstem disease

Question 2

Pain - sharp, shooting, lancinating - distribution or more branches of CNV ; almost always unilateral ; peak incidence 50s-60s ; Trigger points - brushing teeth, combing hair, chewing ; sensory exam normal between “shocks” ; Etiology - MS, posterior foss tumors, majority idiopathic, compression of CN5 entry zone by vascular loop ; Tx - tegretol (carbamazepine), surgery (gangliolysis, posterior fossa craniotomy and decompression of nerve) ;

Answer 2

Trigeminal Neuralgia

Question 3

due to inflammatory reaction of nerve within facial canal (probably herpes zooster) ; associated diseases -> diabetes, hypertension, pregnancy, ramsey hunt syndrome / herpes zooster oticus ; Sx - retroaural pain followed by sudden onset of facial weakness peaking at 48hrs ; Tx - protect eye, prednisone, antiviral agents of doubtful benefit ; NOTE - facial nerve paralysis which may be caused by sarcoidosis or lyme and are NOT Bells Palsy

Answer 3

Bells Palsy

Question 4

lower motor palsy of 1 or more of CN 9, 10, 11, 12 ; manifestations are CN9 - dysphagia, decreased gag reflex ; CN 10, 11: dysphagia, decreased gag reflex, dysarthria, hoarseness, nasal quality of voice and nasal regurgitation of liquids ; CN12 - atrophy + fasiculations of tongue -> tonge deviates to side of lesion may be caused by polio, motor neuron dx, myesthenia gravis

Answer 4

Bulbar palsy

Question 5

UMN paralysis of bulbar muscles - all muscles have bilateral corticobulbar innervation and lesion must be bilateral to produce paralysis ; Clinical manifestations - hyperactive gag reflex (dysphagia), spastic type dysarthria, reduced colitional activity with relatively normal spontaneous and emotional activity, pathological laughter and crying ; Etiology - bilateral strokes, ALS

Answer 5

Psudobulbar palsy

Question 6

Usually caused by acoustic neuroma -> CN8 (Ipsilateral hearing loss, dizziness) -> CN7 (ipsilateral Facial weakness) -> CN5 (facial numbness, ipsilateral masseter weakness) -> cerebellum (ataxia)

Answer 6

Cerebellopontine angle syndrome

Question 7

brainstem ischemia due to disease of vertebro-basilar system ; most commonly occurs with dizziness + other brainstem symptomatology (diplopia, blurred vision)

Answer 7

Vertibrobasilar insufficiency

Question 8

PICA territory infarction but most commonly due to occlusion of vertebral artery ; LESIONS: lateral spinothalamic tract -> CONTRALATERAL loss of pain and temp over trunk and extremities ; Nucleus ambiguous -> paralysis of pharynx and larynx -> decreased gag, dysarthria, dysphagia ; Nuclesu and tract of CN5 -> IPSILATERAL loss of pain and temperature on face ; Dorsal spinocerebellar tract -> IPSILATERAL cerebellar ataxia ; Reticulospinal tracts -> horners syndrome

Answer 8

Wallenberg’s Syndrome (Lateral Medulary Syndrome)

Question 9

Hypoglosal nerve -> deviation of the tongue to the same side as the lesion ; Corticospinal tract -> contralateral hemiparesis ; Medial lemniscus -> contralateral loss of vibration / position “tongue on one side (deviation), limbs on the other (paralysis on contralateral)”

Answer 9

Inferior Alternating Hemiplegia

Question 10

LESION: trigeminal nerve -> ipsilateral facial anesthesia and ipsilateral jaw deviation ; Corticospinal tract -> contralateral hemiparesis and babinski positive

Answer 10

Trigeminal Alternating Hemiplegia

Question 11

LESION: facial nerve -> ipsilateral paralysis of upper and lower portions face ; abducent nerve -> inability to abduct ipsilateral eye ; Corticospinal tract -> contralateral hemiparesis ;

Answer 11

Millard-Gubler Syndrome

Question 12

2 or more of 4 Ds (dizziness, dysarthria, diplopia, dysphagia), crossed fidings, ataxia, upper and lower facial weakness,

Answer 12

Posterior fossa syndromes - general

Question 13

restricted to children and often occurs as a cyst with mural nodule ; if complete removal is accomplished, 90% have disease free survival ; obstructive HYDROCEPHALUS ;

Answer 13

Astrocytoma

Question 14

histologically benign - slow growing and infiltrative -> gross enlargment of brain stem ; CHILDREN ; presents as cranial nerve palsy followed by long tract signs ; Slow growth -> resistant to chemo ; vital location -> removal impossible

Answer 14

brainstem glioma

Question 15

pathology - derived from ependymal cells, located in anterior portion of 3rd ventricle ; often presents with ball-valve obstruction -> recumbent -> foramen open (normal ICP) -> standing -> forament blocked -> increased ICP ; Treatment - shunt or removal

Answer 15

Colloid Cyst

Question 16

drop metastasis ; good five year survival bc they are radiosensitive ; most common brain tumor in children ; highly malignant and poorly differentiated ; CHILDREN 20% of brain tumors ; seen in cerebellum in the midline in children and in the later aspects in adults ; may be associated with hydrocephalus ; CSF spread is common ; radiosensitive ; similar tumors in other locations called Primitive Neuroectodermal tumors (PNET) ; HIGHLY cellular with increased mitotic figures, high N/C ratio, karyorhexis is common ; HOMER-WRIGHT rosettes ;

Answer 16

Medulloblastoma (PNET)

Question 17

FEMALES ; very common ; may be incidental ; seen in elderly and at autopsy ; prominent dural calcifications ; manage and watch especially in an older individual

Answer 17

Meningioma

Question 18

visual field defects, endocrinopathy ; if hormonally inactive may cause visual defects (bitemporal hemianopia) ; Tx - bromocriptine if microadenoma, surgery for macroadenoma

Answer 18

Pituitary adenoma

Question 19

Parinauds syndrome because they are located so close to the superior caliculus and edinger westfal nucleaus therefore will have upgaze and dilated pupils ; large cystic mass ;

Answer 19

Pineal Tumors

Question 20

these are actually schwannoma ; cerebellar-pontine angle syndrome ; hearing loss, tinnitus, vertigo, unsteadiness, facial hypesthesia, ataxia

Answer 20

Acoustic Neuroma

Question 21

minor injuries to muscles and fascia can lead to vertebral joint problems ; relationship between muscle, facet joints and discs as a function of time -> injury -> mechanism = rotational-facets and compressive-disk ; three joint complex = disk and two facets - changes in either of these influence the other -> dysfunction -> herniation -> instability -> lateral nerve entratpment -> one level stenosis -> multilevel spondylosis and stenosis

Answer 21

Degenerative cascade

Question 22

circumferential tears -> radial tears -> internal disruption -> disc resorption -> osteophytes ; all of these degenerative processes affect the disc

Answer 22

Disc injury progression

Question 23

synovitis / hypomobility -> continuing degeneration -> capsular laxity -> subluxation -> enlargemtn of articular processes ; all of these degenerative processes affect the disc

Answer 23

Facet joint injury

Question 24

radicular (5-15% -> DISK HERNIATION, canal/recess stenosis, osteophyties, spondylolisthesis, failed back syndrome), non-radicular (85-95% -> internal disk disruption, facets, SI joints, soft tissue, mechanical) ;

Answer 24

Back pain

Question 25

mostly seen in gray/white junction (lung, breast, kidney) ; well circumscribed lesions, multiple

Answer 25

Metastasis to brain

Question 26

most common malignant high grade tumor in ADULTS, composed of astrocytes (glial cells) ; crosses corpus callosum (butterfly glioma) ; Large amount of necrosis ; pseudopalisading cells ; endothelial cell proliferation and intermediate filament GFAP seen because it is present in glial cells

Answer 26

Glioblastoma Multiforme

Question 27

malignant tumor of ependymal cells usually seen in CHILDREN ; most commonly arises in 4th ventricle -> may present with hydrocephalus ; perivascular pseudo-rossettes

Answer 27

Ependynoma

Question 28

malignant tumor from granula cells of the cerebellum ;usually arises in CHILDREN; small round blue cells - Homer-Wright rosettes may be present ; poor prognosis as tmor grows rapidly ad spreads via CSF (drop metastases) ; arises from NEURAL ECTODERM

Answer 28

Medulloblastoma

Question 29

usually seen in ADULT females ; benign tumor of arachnoid cells ; may present with seizures ; imaging reveals a round mass attached to the dura compressing but NOT invading the cortex ; whirled appearance of cells and abundant psamoma bodies ;

Answer 29

Meningioma

Question 30

locally destructive and rarely metatasize ; in CHILDREN found below tentorium, in adults mostly found above the tentorium

Answer 30

Primary tumors

Question 31

benign tumor of astrocytes ; most common CNS tumo in CHILDREN ; usually arises in the cerebellum ; cystic lesion with mural nodule (on imaging) ; astrocytes with thick eosinophilic processes - Rosenthal fibers ; GFAP positive because arising from glial cells

Answer 31

Pilocytic Astrocytoma

Question 32

malignant tumor of oligodendrocytes seen in ADULTS ; calcified tumor in the white matter - usually involves the frontal lobe ; may present with seizures ; on histoloy cancer cells have fried egg appearance

Answer 32

Oligodendroglioma

Question 33

benign tumor of schwann cells ; involves cranial or spinal nerves (especially 8th cranial nerve - acoustic neuroma - at the cerebellar pontine angle) ; S100 positive ; bilateral tumors seen in Neurofibromatosis 2

Answer 33

Schwannoma

Question 34

remnants of Rathkes Pouch ; presents as supratentorial mass in a child or young adult ; optic chiasm compression leads to bitemporal hemianopsia ; calcification seen on imaging ; benign but tends to recur after resection

Answer 34

Craniopharyngioma

Question 35

electric shock type of pain usually between eye and mouth (patients think its a tooth pain) ; Tx - anticonvulsants, neurectomy, subtemporal rhizotomy, glyceral rhizotomy, radiofrequency rhizotomy, ballooned rhizotomy (50-60% effective after 2 yrs), microvascular decompression (major surgery but 80% effective after 5yrs) ; new therapy is gamma knife (almost as effective as microvascular decrompression) ; May be caused by pulsations of superior cerebelar artery on the trigeminal nerve -> causing some demyelination

Answer 35

Trigeminal Neuralgia

Question 36

complete loss of regulation (sweating, hair growth, etc) and pain to a limb or part of the body ; Tx - sympathetic blocks, sympathectomy, medical rx, spinal cord stimulators (SCS), intrathecal opiot pumps (pump with medication directly into the intrathecal space)

Answer 36

Aarachnoiditis / Failed Back Syndrome

Question 37

occurs in the lumbar, scral area when the cauda equina nerves clump together due to inflammation ; may be caused by meningitis, hemorrhage, etc ; Tx - medical rx, scar excision, spinal cord stimulation (better for arm or leg pain), intrathecal opiote pump (pain in torso) ;

Answer 37

RSD / Complex regional pain syndrome

Question 38

generally surgery is an option for terminally ill cancer patients BUT there are other options that may be better such as the intrathecal opiod pump which has better pain control with less side effects ; may be supplemented with IV meds but is usually not needed

Answer 38

Cancer Pain

Question 39

under normal circumstatnces, pain is percieved by pain neurons but there are also inhibitory neurons blocking pain ; dorsal columns activated (distractive stiumulus that feels like vibration) -> activates the inhibitory neuron

Answer 39

Gate Theory of pain

Question 40

Risk factors - age >40, astrocytoma histology, >6cm in largest dimension, crossing midline, neurological dficits ; High risk >2 risk factors - overall survival is 3.9 yrs ; Low risk - overall survival is 10.8 yrs ; Sx - seizures (81%), astrocytomas progress to higher grades, pilocytic astrocytomas (curable - well circumscribed, do not show grade advancement, surgically resectable) ; Oligodendrogliomas - over half have loss of 1p and 19q (grade 2 have 70% 5yr survival) ; you always use it but radiation therapy (immediate or delayed) does not significantly change overall survival ; Chemotherapy is NOT used ; Tx - surgery - then radiation therapy

Answer 40

Low grade infiltrative Astrocytomas & Oligodendrogliomas

Question 41

alkalating agent - causes genetic breaks ; treatment for glioblastomas ; use can lead to secondary leukemia

Answer 41

Temozolomide

Question 42

Temozolomide + radiation + Temozolomide (consolidation) + Bevacizumab (can cause hypertension, renal failure, and bleeding)

Answer 42

Treatment for Gliomas and Glioblastomas

Question 43

present with increased ICP, hydropcephalus, multiple CN palsies and cerebellar defects ; chemotherapy does not work ; radiation is focused

Answer 43

Intracraneal Ependymomas

Question 44

embryonal neoplasm - rare ; Grade 4 ; disseminate through CSF ; chemo unclear ; Sx - ICP, ataxia, nausea ; Tx- surg, adjuvant XRT

Answer 44

Medulloblastoma & Supratentorial PNET

Question 45

common ; extra-axial tumors from arachnoid cap cells in meninges ; Grade 1 tumors ; Tx - observation, surgery if symptomatic, radiation, chemo if recurrent tumor (hydroxyurea, somatostatin, interferon)

Answer 45

Meningeomas

Question 46

small cell lung neoplasms is most common, melanoma, ; radiation therapy is mainstay ; Grade 4 - usually just tx with palliative care ; NOTE - only if single solitary site then surgery ;

Answer 46

Metastatic disease

Question 47

about 50% of brain tumors are primary the resta re metastatic ; primary brain tumors account for 20% of cancers in children under 15yo ; Sx - may be focal or generalized SEIZURES, focal neurologic deficites, increased ICP -> death usually assoc with increased ICP ; prognosis related to benign or malignant vehaviour ; invasion and destruction of vital centers ; extracranial metastasis are rare ; ADULT tumors are SUPRATENTORIAL ; PEDIATRIC tumors are subtentorial

Answer 47

CNS Tumors

Question 48

MALES ; astrocytes, ependymal cells, oligodendrocytes -> produce most primary CNS tumors ;

Answer 48

Glioma

Question 49

linked to immunodeficiency ;

Answer 49

Primary CNS lymphomas

Question 50

pilocytic astrocytoma ; distinct differences from other astrocytomas (different genetic profile, do NOT infiltrate, rarely progress to higher grade) -> better prognosis

Answer 50

Astrocytoma grade I

Question 51

well circumscribed mural nodule associated with cyst ; compact and microcystic areas, cells have piloid hairlike process ; rosenthal fibers and thickened blood vessels ;

Answer 51

Pilocytic astrocytoma

Question 52

diffusely infiltrative growth pattern ; II = pelomorphism, progeress to III = mitoses, progress to IV = glioblastoma multiforme = marked vascular proliferation with production of VEGF, hemorrhage, necrosis, PSEUDOPALISADING pattern of cells in the tumor -> often crosses corpus callosum -> deffusely expand white matter (poorly demarcated), most have dense meshwork of cytoplasmic process ; MOST common primary brain tumor in ADULTS

Answer 52

Astrocytoma grades II-IV

Question 53

chromosome 1p and 19q ; ADULT ; supratentorial ; associated with epilepsy, hemorrhage, CALCIFICATION ; more chemosensitive ; diffusely infiltrate the cortex, uniform cells with PERINUCLEAR HALOS and round nuclei, branching capillaries

Answer 53

Oligodendroglioma

Question 54

3rd most common in CHILDREN ; often grow near ependyma lined ventricles or spinal cord central canal ; intraspinal tumors may be completely excised ; circumscribed tumor -> INFRATENTORIAL ; CSF dissemination common and cytology can play a role in diagnosis ; solid or papillary growth ; ROSETTES and perivascular PSEUDOROSETTES

Answer 54

Ependymoma

Question 55

in filum terminale of spinal cord ; prognosis depends on extent of excision ; cuboidal cells around papillary cores in mixoid background ; biologically benign

Answer 55

Myxopapillary ependymoma

Question 56

Grade I tumor ; 4th or lateral ventricles ; slow growuing may form a small lesion ; may be an incidental autopsy finding ; small and may be calcified ; high fibrilar proteinatious background but LOW cellularity

Answer 56

Subependymoma

Question 57

hihgly malignant and poorly differentiated ; CHILDREN 20% of brain tumors ; seen in cerebellum in the midline in children and in the later aspects in adults ; may be associated with hydrocephalus ; CSF spread is common ; radiosensitive ; similar tumors in other locations called Primitive Neuroectodermal tumors (PNET) ; HIGHLY cellular with increased mitotic figures, high N/C ratio, karyorhexis is common ; HOMER-WRIGHT rosettes ;

Answer 57

Medulloblastoma

Question 58

most common extra-axial tumor ; most common non-glial tumor in adults (FEMALES) of middle decades ; arise from arachnoid cap cells ; slow growing dural based mass, may be associated with HYPEROSTOSIS of overlying skull ; may arise post irradiation ; some express estrogen receptors which may provide a TX if lesion is not surgically accessible ; NOTE - associated with NEUROFIBROMATOSIS type 2 - deletion of chromosome 22q ; Rounded mass - well circumscribed ; En plaque variant has a carpet like growth and can induce hyperostosis ; can compress brain leading to seizures and headache ; firm/gritty on gross appearance ; PSAMMOMA bodies (concetric laminations) - due to whirls of cells that condence together

Answer 58

Meningiomas

Question 59

CNS manifestation of von Hippel-Lindau disease - autosomal dominant (chromosome 3p) ; can develop tumors of the cerebellum, retina, brainstem and spinal cord, pancrease, liver, renal cell CA ; mixture of delicate capillary vessels and stoma cells with multiloculated cytoplasm ; presents as a cerebellar cysts with mural nodule ;

Answer 59

Hemangioblastomas

Question 60

papillary neoplasm ; most present during first decade of life ; carcinomas occur before 3yo ; lateral and third ventricle in children ; fouth ventricle in adults ; solid areas of necrosis and mitosis

Answer 60

Choroid plexus tumors

Question 61

benign encapsulated tumor arising from Schwann cells ; seen in 30-60yo ; associated with sensory nerves ; intracranial - acoustic CN 8 and CN 5 ; if spinal affects posterior sensory roots ; SPINDLE cell tumor with alternating dense regions (Antoni A) and loose regions (Antoni B) ; VEROCAY bodies - alignment of palisading of nuclei ; hyalinized blood vessels ;

Answer 61

Schwannoma

Question 62

chromosome 17 mutation coding for protein neurofibromin which serves partially as tumor suppressor ; loss of neurofibromin causes increased cellular proliferation ; neurofibromin is also found in vascular and endothelial and smooth muscle cells resulting in vascular lesions ; MULTIPLE neurofibromas and pilocytic astrocytomas ;

Answer 62

Neurofibromatosis type 1

Question 63

chromosome 22 codes for a protein called merlin which is made by schwann cells and serves as tumor suppressor to prevent unregulated cell growth ; bilateral acoustic schwannomas, multiple ependymomas and meningiomas = MISME syndrome ; neoplastic proliferation of schwann cells -> fibroblasts and perineurial like cells causing expansion of nerve (risk of malignant transformation)

Answer 63

Neurofibromatosis type 2

Question 64

arise from transformation of primordial tissue derived from ectoderm, mesoderm and endoderm ; generally arise along the midline ; pineal gland is most common site especially in males ; suprasellar region is second most common site ; features resemble the seminoma in testis and dysgerminoma in ovary ; germ cells are large with distinct cell borders -> large vesicular nuclei and prominent nucleoli ; infiltration of lymphocytes mostly T cells ; mitoses and necrosis is common

Answer 64

Germ cell tumors

Question 65

non-hodgkins lymphoma - usually of B-cell origin ; increased frequency in AIDS pts ; radiosensitive but overall prognosis is poor ; soft gray-pink with areas of necrosis and hemorrhage, often angiocentric

Answer 65

Primary CNS lymphomas

Question 66

spread from lungs (hemorrhagic), breats, MELANOMA (hemorrhagic), choriocarcinoma (hemorrhagic), renal (hemorrhagic) etc ; localized to the JUNCTION of gray/white mater ; more common in cerebral cortex than in cerebellum ; often in the distribution of the midle cerebral artery ; NOTE - brain stem mets are rare ;

Answer 66

CNS Metastasis

Question 67

present as LMN injuries, may involve one neuron or several neurons ; legs > arms ; may be due to axonal degeneration (typically due to diabetic neuropathy) -> decreased amplitude of nerve potential ; segmental demyelination (myelin sheath is the most susceptible part of nerve, may be injured by process affecting the Schwann cell or following injury to the axon) -> causes slwoing of nerve conduction or “conduction block” ; Wallerian Degeneration (when a nerve is cut) -> degeneration occurs distal to the site of axonal interruption ;

Answer 67

Peripheral Neuropathies

Question 68

(when a nerve is cut) -> degeneration occurs distal to the site of axonal interruption

Answer 68

Wallerian Degeneration

Question 69

(typically due to diabetic neuropathy) -> decreased amplitude of nerve potential

Answer 69

Axonal Degeneration

Question 70

(myelin sheath is the most susceptible part of nerve, may be injured by process affecting the Schwann cell or following injury to the axon) -> causes slwoing of nerve conduction or “conduction block”

Answer 70

Segmental demyelination

Question 71

causes include: Metabolic - diabetes, uremia, hepatic failure, myxedema ; Vitamine Deficiency - Thiamine, B12, Folic Acid, Pyridoxine deficiency or overdose ; Toxin - alcohol, heavy metals, industrial solvents, insectisides ; Recreational Drugs - glue sniffing, nitrous oxide, cocaine, heroin ; Therapeutic drugs - phenytoin, vincristine, isoniazid, gold, chloroquine, hydralazine, disulfuram, penicillamine ; Immunologically mediated - Guillain-Barre syndrome, Chronic inflammatory demyelinating polyradicoloneuropathy, monoclonal proteins, amyloidosis, ; Misc - AIDs, paraneoplastic, inherited, lyme disease, leprosy, porphyria, collagen vascular disease, metachromatic leukodistrophy, diptheria, sarcoid ;

Answer 71

Causes of Symmetric polyneuropathy

Question 72

Acute inflammatory demyelinating polyneuropathy, probable autoimmune mechanism direct against the myelin sheath, one of the most frequent and fatal forms of neuropathy seen in the hospital setting ; preceeded by a viral syndrome in most cases ; ascending, predominantly motor, several day to couple week course, may lead to total paralysis with respiratory failure, acute reduction of reflex loss ; Dx - spinal tap (albuminocytologic dissociation) ; variable course of duration 90% full recovery ; Tx - possible ventilator support, plasmapheresis, or IVIG ; NOTE - do NOT use steroids to tx

Answer 72

Guillian Barre Syndrome

Question 73

several clinical symptoms - most common is distal symmetric primarily sensory, segmental demyelination, numbness and pain starting in feet, toes, hands, cranial nervse (3rd nerve more commonly involved than 6th - spares the pupillary reflex) ; diabetic amyotrophy - injury of lumba plexus, weakness and atrophy involving the pelvic girdle and thigh area ; Etiology - vascular with ischemia to the vaso nervorum, metabolic with accumulation of byproducts of glucose metabolism, prognosis-variable ; may see some autonomic effects - gastric, bladder, impotence, postural hypotension, diarrhea ; Tx - strict control of blood sugar

Answer 73

Diabetic neuropathy

Question 74

median nerve entrapment, compression under flexor retinaculum, numbness and tingling in the wrist, thumb, 2nd & third digits, variable distribution ; associated with trauma, pregnancy, arthritis, hypothyroidism, diabetes, and acromegaly ; dominant hand is more commonly affected (50% is bilateral) ; Tx - discontinue activity, treat associated disorder, wrist splint/local injection, surgery

Answer 74

Carpal Tunnel Syndrome

Question 75

etiology - deficiency of B vitamins, direct toxic effect of alcohol ; may develop over a period of several weeks and last for a variable period -> pain and numbness in legs ; Weakness and atrophy of distal muscles, mainly in the legs ; may be associated with proximal alcoholic myopathy ; treatment - abstinence from alcohol and B vitamin replacement

Answer 75

Alcohol neuropathy

Question 76

dominant inheritance ; onset in adolescense often with atrophy of calf muscles ; “Champagne glass” appearance of calf ; associated with foot drop ; milder upper extremity involvement, minimal involvement proximal to elbow and knee, gait difficulty due to foot-drop and sensory ataxia ;

Answer 76

Charcot-Marie-Tooth Disease

Question 77

identify etiology if possible, treat that etiology if possible, symptomatic treatment - treat pain, assistive device, physical therapy ;

Answer 77

Treatment of Neuropathies

Question 78

anticonvulsants - tegretol, dilantin, neurontin, lamictal, topomax, trileptal ; tricyclic antidepressants ; antiarrythmics, capscaicin cream, TENS, analgesics, acupuncture ;

Answer 78

Pain Tx of neuropathy

Question 79

CPK elevated less than 1000, AD, winged scapula, age of onset 5-20, Popeye arm, weakness of biceps and triceps with deltoid spared, eyelid ptosis

Answer 79

Facioscapulohumeral dystrophy

Question 80

weakness primarily distal - stocking sensory loss, reflexes reduced to absent ; atrophy of muscle, fiber type grouping, decreased muscle motor units with larger amplitudes

Answer 80

peripheral neuropathy

Question 81

weakness primarily proximal, usually painless ; CPK elevation and greatest in necrotic myopathies ; atrophy, degeneration of fibers, increased endomysial connective tissue, increased internal nuclei, many inflammatory cells ; large variation in size of muscle fibers ; more muscle motor units are activated to move muscle but the amplitude is diminished

Answer 81

myopathy

Question 82

degeneration of anterior horn cells corresponding motor units produces weakness, atrophy and fasciculations ; may also have UMN involvement from the pyramidal tract and thus may see hyperreflexia and spastiity ; disorders include Psudobulbar palsy, Primary Lateral Sclerosis, Spinal Muscle Atrophy, Progressive Bulbar Palsy ; Clinical presentation - asymetric weakness and atrophy, prominent fasciculations (especially tongue), dysphagia, tongue atrophy ; UMN - increased DTR, jaw jerk, pseudo-bulbar palsy ; LMN - atrophy, fasciculations ; Bulbar signs - dysarthria ; EMG - GIANT motor units because of dying motor units ; Pathogenesis - defect of superoxide dismutase -> glutamate accumulation in motor neurons

Answer 82

Amyotropic Lateral Sclerosis - ALS

Question 83

fatiguable weakness, often involving eyes at onset (double vision), oropharygneal weakness (CN IX,X), respiratory hypoxia ; antibodies to acetylcholine receptors, thymic hyperplasia ; Post synaptic disorder ; Tx - pyridostigmine (may produce cramps, diarrhea, increased salivation, sweating), corticosteroids, immunosuppressive, thymectomy

Answer 83

Myesthenia gravis

Question 84

an autosomal recessive disease caused by a genetic defect in the SMN1 gene that codes SMN (needed for survival of motor nerve) ; severe form manifests in the first months of life, usually with a quick and unexpected onset, Werdnig-Hoffman disease, other forms are intermediate SMA and Kugleberg-Weilander disease

Answer 84

Spinal Muscualr Atrophy

Question 85

“floppy baby syndrome” Rapid motor neuron death causes inefficiency of the major bodily organs - especially of the respiratory system - and pneumonia-induced respiratory failure is the most frequent cause of death. Babies diagnosed with SMA type I do not generally live past two years of age, with death occurring as early as within weeks in the most severe cases (sometimes termed SMA type 0). With proper respiratory support, those with milder SMA type I phenotypes, which account for around 10% of cases, are known to live into adolescence and adulthood.

Answer 85

Werdnigh-hoffman disease

Question 86

symetrical proximal muscle weakness, fasciculation, tongue atrophy, contractures, scoliosis, ; prognosis determined by degree of respiratory involvement may survive into early aulthood ; tx - aggessive respiratory care, prevent deformities, physical therapy, bracing for scoliosis

Answer 86

Intermetiate spinal muscular atrophy

Question 87

proximal muscle weakness - wadling, lordotic gait which resembles muscular dystrophy ; minimal respiratory involvement, good prognosis (life expectancy is normal or near normal) ; Tx - promote ambulation

Answer 87

Kugleberg-Weilander disease

Question 88

is a rare autoimmune disorder that is characterised by muscle weakness of the limbs. It is the result of an autoimmune reaction, where antibodies are formed against presynaptic voltage-gated calcium channels in the neuromuscular junction (the connection between nerves and the muscle that they supply). Around 60% have an underlying malignancy, most commonly small cell lung cancer; it is therefore regarded as a paraneoplastic syndrome (a condition that arises as a result of cancer elsewhere in the body) ; weakness IMPROVES with use

Answer 88

Eaton-Lambert Syndrome

Question 89

Symptoms include pain, with marked weakness and/or loss of muscle mass in the proximal musculature, particularly in the shoulder and pelvic girdle. The hip extensors are often severely affected, leading to particular difficulty in ascending stairs and rising from a seated position. Thickening of the skin on the fingers and hands (sclerodactyly) is a frequent feature, although this is non-specific and occurs in other autoimmune connective tissue disorders. Dysphagia (difficulty swallowing) and/or other aspects of oesophageal dysmotility occur in as many as 1/3 of patients. Low grade fever and peripheral adenopathy may be present. ; NOTE - associated with CVD ; anti-jo antibodies

Answer 89

polymyocytis

Question 90

heliotrope - peryorbital rash ; massively elevated CPK ; connective-tissue disease related to polymyositis (PM) that is characterized by inflammation of the muscles and the skin. While it most frequently affects the skin and muscles, it is a systemic disorder that may also affect the joints, the esophagus, the lungs, and, less commonly, the heart ; HIGH associated with CANCER ;

Answer 90

dermatomyositis

Question 91

CPK is normal, EMG normal or myopathic, Biopsy - fiber atropy

Answer 91

Atrophic myopathy

Question 92

polymyositis and collagen vascular disease, childhood dermatomyositis, polymyocytis, dermatomyocytis, inclusion body myocytis ; general features include degeneration of muscle fibers, atrophy, proximal muscle weaknes, muscle pain

Answer 92

Myocytis

Question 93

age of onset > 30yo ; duration > 6months ; weakness of proximal and distal arm and leg muscles ; CPK is less than 12x normal ; EMG - inflammatory changes ; biopsy - inflammatory changes, VACUOLATED MUSCLE FIBERS ; Tx - steroids, immunosuppressants, IV IgG

Answer 93

inclusion body myositis

Question 94

normal CPK, and EMG normal but proximal muscle weakness ; caused by chronic use of corticosteroids ; weakness beginning in pelviffemoral muscles which may progress to trunk, neck and arms ; tx - switch to short acting preparation of corticosteroids or alternate day therapy

Answer 94

steroid myopathy

Question 95

pts on thiazide diuretics, or have had vomiting, and or diarrhea ; muscle weakness due to low potassium ; potassium less than 2.5 ; prognosis improves within days after potassium replacement ;

Answer 95

acute hypokalemic myopathy

Question 96

only affects males ; presents early in life ; Gower’s sign ; sex linked recessive ; gene on short arm of X chromosome, dystrophin absent in skeletal muscle, dystrophin also ni cardiac and smooth muscle so may have involvement of these too ; massively elevated CPK, 100,000 + (elevated in utero - so can test in amniotic fluid)

Answer 96

Duchennes Muscular Dystrophy

Question 97

symptom of a small handful of certain neuromuscular disorders characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. Generally, repeated effort is needed to relax the muscles, and the condition improves after the muscles have warmed up. However, prolonged, rigorous exercise may also trigger the condition. Individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff, awkward gait.

Answer 97

Myotonia

Question 98

autosomal dominant (type 1 or 2) or recessive (type 2) ; bulbar and distal ; is a chronic, slowly progressing, highly variable, inherited multisystemic disease ; It is characterized by wasting of the muscles (muscular dystrophy), cataracts, heart conduction defects, endocrine changes, and myotonia. ; Type 1 (DM1), also known as Steinert disease, has a severe congenital form and a milder childhood-onset form. Type 2 (DM2), also known as proximal myotonic myopathy (PROMM), is rarer and generally manifests with milder signs and symptoms than DM1.

Answer 98

Myotonic Dystrophy and Myotonia congenita