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NEURO_MND a case of PLS.pptx

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NEURO_MND a case of PLS.pptx

  1. 1. TUESDAY LECTURE SERIES: NEUROMUSCULA R DISORDERS
  2. 2. IDENTIFYING DATA: C.P. 44 yo/ Male Right-handed Roman Catholic Driver/ Mechanic From Dalumbatan, Teresa Rizal First admission: May 21, 2010
  3. 3. CHIEF COMPLAINT: Progressive Right-sided weakness of 1 year duration
  4. 4. HISTORY OF PRESENT ILLNESS 1 year and 1 month PTA (April 2009): Mild foot weakness, foot as slow and dropping Difficulty of putting his shoe to the Right Difficulty lifting up the foot No consult was done 1 year PTA (May 2009): Difficulty lifting his Right leg Infrequent episodes of buckling of the Right knee Bumped on to chairs while walking, could not control his Right leg Described his Right leg as weak No problems in going up & down the stairs Still no consult was done
  5. 5. HISTORY OF PRESENT ILLNESS 8 months PTA (Sept 2009): Progressive Right lower extremity weakness Noticeable instability during ambulation Initial consult with a Private MD was done On Consult: 4/5 motor strength on the Right leg (+) Babinski’s sign Right ankle clonus Plain Lumbar MRI and EMG-NCV of both LE was done
  6. 6. PLAIN LUMBAR MRI: mild spondylosis at L2-L3 small right paracentral disc protrusion at L2-L3 causing right lateral recess stenosis right ventral thecal sac and the exiting right L3 nerve root indentations Posterior disc bulges with annular fissures were similarly noted at L3- L4 to L5-S1, with mild thecal sac indentation at L3-L4 and L4-L5
  7. 7. EMG-NCV (LOWER EXT – BILATERAL) Sensory Nerve Conduction: Nerve and Site Onset Latency Peak Latency Amplitude Latency Difference Distance Conduction Velocity Sural.L Calf 1.6 ms 2.1 ms 23 V 1.6 ms 92 mm 58 m/s Sural.R Calf 1.6 ms 2.0 ms 23 V 1.6 ms 89 mm 57 m/s Superficial peroneal.L Ankle 1.6 ms 2.1 ms 21 V 1.6 ms 100 mm 63 m/s Superficial peroneal.R Ankle 1.6 ms 2.2 ms 19 V 1.6 ms 102 mm 64 m/s
  8. 8. EMG-NCV (LOWER EXT – BILATERAL) Motor Nerve Conduction: Nerve and Site Latency Amplitude Latency Difference Distance Conduction Velocity Tibial.L Ankle 4.2 ms 16.6 mV 4.2 ms Popliteal fossa 12.6 ms 11.7 mV 8.4 ms 375 mm 45 m/s Tibial.R Ankle 4.7 ms 15.1 mV 4.7 ms Popliteal fossa 13.0 ms 9.5 mV 8.3 ms 369 mm 44 m/s Peroneal.R Ankle 3.9 ms 5.4 mV 3.9 ms Fibula (head) 11.3 ms 5.6 mV 7.4 ms 340 mm 46 m/s Popliteal fossa 12.8 ms 5.1 mV 1.5 ms 66 mm 44 m/s Peroneal.L Ankle 4.4 ms 5.5 mV 4.4 ms Fibula (head) 11.4 ms 5.2 mV 7.0 ms 345 mm 49 m/s Popliteal fossa 12.7 ms 5.2 mV 1.3 ms 55 mm 42 m/s
  9. 9. EMG-NCV (LOWER EXT – BILATERAL) F-wave: Nerve F-Latency Tibial.L 48.4 Tibial.R 48.6 H-waves: Nerve Latency Tibial.L H-wave: 29.4 ms Tibial.R H-wave: 29.2 ms EMG Studies: Insertional Spontaneous Activity Volitional MUAPs Max Volitional Activity Muscle Insertional Fibs +Wave Fasc Duration Amplitude Poly Config Recruitment Amplitude Pattern Effort Gastrocnemius (Medial head).L Increased None None None Normal Normal None Normal Normal Tibialis anterior.R Normal None None None Normal Normal None Normal Normal Vastus medialis.R Normal None None None Normal Normal None Normal Normal Rectus femoris.R Normal None None None Normal Normal None Normal Normal L5-S1 paraspinal.R Normal None None None Normal Normal None Normal Normal L4-L5 paraspinal.R Normal None None None Normal Normal None Normal Normal L3-L4 paraspinal.R Increased None None None Normal Normal None Normal Normal L2-L3 paraspinal.R Increased None 1+ None Normal Normal None Normal Normal L1-L2 paraspinal.R Normal None None None Normal Normal None Normal Normal L5-S1 paraspinal.L Normal None None None Normal Normal None Normal Normal L3-L4 paraspinal.L Normal None None None Normal Normal None Normal Normal L2-L3 paraspinal.L Increased None 1+ None Normal Normal None Normal Normal
  10. 10. EMG-NCV (LOWER EXT – BILATERAL) EMG Studies: Insertional Spontaneous Activity Volitional MUAPs Max Volitional Activity Muscle Insertional Fibs +Wave Fasc Duration Amplitude Poly Config Recruitment Amplitude Pattern Effort Gastrocnemius (Medial head).L Increased None None None Normal Normal None Normal Normal Tibialis anterior.R Normal None None None Normal Normal None Normal Normal Vastus medialis.R Normal None None None Normal Normal None Normal Normal Rectus femoris.R Normal None None None Normal Normal None Normal Normal L5-S1 paraspinal.R Normal None None None Normal Normal None Normal Normal L4-L5 paraspinal.R Normal None None None Normal Normal None Normal Normal L3-L4 paraspinal.R Increased None None None Normal Normal None Normal Normal L2-L3 paraspinal.R Increased None 1+ None Normal Normal None Normal Normal L1-L2 paraspinal.R Normal None None None Normal Normal None Normal Normal L5-S1 paraspinal.L Normal None None None Normal Normal None Normal Normal L3-L4 paraspinal.L Normal None None None Normal Normal None Normal Normal L2-L3 paraspinal.L Increased None 1+ None Normal Normal None Normal Normal
  11. 11. EMG-NCV Evidence for Bilateral (right more than left) lumbar radiculopathy affecting L2/L3 roots.
  12. 12. HISTORY OF PRESENT ILLNESS 7 months PTA (Oct. 2009) Persistent Right leg weakness Prominent Right upper extremity weakness: combing hair, scratching ears and reaching for objects above head Difficulty in gripping objects with the Right hand Changes in his hand-writing Repeat consult: “Brain Mass” suspected Plain Cranial MRI and Cervico-Thoracic Contrast MRI was done
  13. 13. PLAIN CRANIAL MRI bilateral frontal and parietal white matter signals may be seen in microvascular ischemic changes, demyelination or in migraine headache no evidence of infarct, mass or hemorrhages. Cervico-Thoracic Contrast MRI • Spondylosis at C4-C7 • Circumferential disc bulges at C4-C5 to C6-C7 with mild subarachnoid space indentation. • Nothing conclusive was identified at this time.
  14. 14. HISTORY OF PRESENT ILLNESS 7 months PTA (Oct. 2009) Repeat EMG-NCV was done a few weeks after
  15. 15. REPEAT EMG- NCV Sensory Nerve Conduction: Nerve and Site Onset Latency Peak Latency Amplitude Latency Difference Distance Conduction Velocity Sural.L Calf 1.8 ms 2.2 ms 27 V 1.8 ms 102 mm 57 m/s Sural.R Calf 2.1 ms 2.6 ms 25 V 2.1 ms 115 mm 55 m/s Superficial peroneal.L Ankle 1.7 ms 2.3 ms 18 V 1.7 ms 99 mm 59 m/s Superficial peroneal.R Ankle 1.8 ms 2.4 ms 13 V 1.8 ms 95 mm 53 m/s Median.R Wrist 2.5 ms 3.1 ms 45 V 2.5 ms 130 mm 52 m/s Palm 1.8 ms 2.2 ms 49 V 0.7 ms 36 mm 51 m/s Ulnar.R Wrist 2.0 ms 2.6 ms 39 V 2.0 ms 115 mm 58 m/s Median/Ulnar.R Comparison (Median) 2.5 ms 3.1 ms 11 V Comparison (Ulnar) 2.3 ms 2.8 ms 20 V 0.2 ms Radial.R Forearm 1.5 ms 1.9 ms 37 V 1.5 ms 90 mm 62 m/s Median.L Wrist 2.3 ms 2.9 ms 48 V 2.3 ms 135 mm 59 m/s Palm 1.5 ms 1.9 ms 40 V 0.8 ms 46 mm 58 m/s Ulnar.L Wrist 2.1 ms 2.5 ms 38 V 2.1 ms 120 mm 58 m/s Median/Ulnar.L Comparison (Median) 2.4 ms 3.2 ms 24 V Comparison (Ulnar) 2.2 ms 2.8 ms 26 V 0.2 ms Radial.L Forearm 1.5 ms 1.9 ms 38 V 1.5 ms 92 mm 61 m/s
  16. 16. REPEAT EMG-NCV Motor Nerve Conduction: Nerve and Site Latency Amplitude Latency Difference Distance Conduction Velocity Tibial.L Ankle 4.6 ms 17.0 mV 4.6 ms Popliteal fossa 12.4 ms 12.7 mV 7.8 ms 380 mm 49 m/s Tibial.R Ankle 4.6 ms 15.9 mV 4.6 ms Popliteal fossa 12.6 ms 10.2 mV 8.0 ms 390 mm 49 m/s Peroneal.R Ankle 4.2 ms 6.0 mV 4.2 ms Fibula (head) 11.7 ms 5.8 mV 7.5 ms 355 mm 47 m/s Popliteal fossa 13.4 ms 6.7 mV 1.7 ms 75 mm 44 m/s Peroneal.L Ankle 3.9 ms 6.2 mV 3.9 ms Fibula (head) 11.0 ms 6.6 mV 7.1 ms 350 mm 49 m/s Popliteal fossa 12.3 ms 5.8 mV 1.3 ms 60 mm 46 m/s Median.R Wrist 3.8 ms 14.7 mV Elbow 7.7 ms 13.0 mV 3.9 ms 230 mm 59 m/s Ulnar.R Wrist 3.1 ms 18.0 mV 4.1 ms 260 mm 63 m/s Bel Elbow 7.2 ms 18.9 mV 1.2 ms 75 mm 63 m/s Abv Elbow 8.4 ms 18.3 mV Median.L Wrist 3.3 ms 12.9 mV Elbow 7.7 ms 13.0 mV 4.4 ms 260 mm 59 m/s Ulnar.L Wrist 2.6 ms 17.3 mV 4.6 ms 270 mm 59 m/s Bel Elbow 7.2 ms 17.2 mV 1.1 ms 65 mm 59 m/s Abv Elbow 8.3 ms 16.6 mV
  17. 17. REPEAT EMG-NCV F-wave: Nerve F-Latency Tibial.L 47.8 Tibial.R 47.6 Median.R 27.9 Ulnar.R 27.3 Median.L 26.9 Ulnar.L 27.0 H-waves: Nerve Latency Tibial.L H-wave: 29.1 ms Tibial.R H-wave: 29.7 ms
  18. 18. EMG Studies: Insertional Spontaneous Activity Volitional MUAPs Max Volitional Activity Muscle Insertional Fibs +Wave Fasc Duration Amplitude Poly Config Recruitment Amplitude Pattern Effort Biceps brachii.R Normal None None None Normal Normal None Normal Normal Flexor carpi radialis.R Normal None None None Normal Normal None Normal Normal Extensor digitorum communis.R Normal None None None Normal Normal None Normal Normal 1st dorsal interosseous.R Normal None None None Normal Normal None Normal Normal Gastrocnemius (Medial head).R Normal None None None Normal Normal None Normal Normal Tibialis anterior.R Normal None None None Normal Normal None Normal Normal Rectus femoris.R Normal None None None Normal Normal None Normal Normal L5-S1 paraspinal.R Increased None 1+ None Normal Normal None Normal Normal L5-S1 paraspinal.L Increased None None None Normal Normal None Normal Normal L4-L5 paraspinal.R Normal None None None Normal Normal None Normal Normal L4-L5 paraspinal.L Normal None None None Normal Normal None Normal Normal C5-C6 paraspinal.R Normal None None None Normal Normal None Normal Normal C6-C7 paraspinal.R Normal None None None Normal Normal None Normal Normal C7-C8 paraspinal.R Normal None None None Normal Normal None Normal Normal T6-T7 paraspinal.R Normal None None None Normal Normal None Normal Normal
  19. 19. REPEAT EMG-NCV Evidence of an acute bilateral lower lumbar radiculopathy affecting the S1 and/or L5 roots. There were no findings at that time suggestive of a diffuse motor neuron disease, myopathy, or neuropathy. A repeat study was suggested a few months after.
  20. 20. SECOND OPINION ON NEUROIMAGING Few non-specific, non-enhancing signal abnormalities involving the cerebral white matter, a finding commonly seen in association with chronic migraine headaches and chronic small vessel ischemic disease. Mild lumbar spondylosis, demonstrating a small central and right paracentral disc protrusion at L2-L3 and mild disc bulges from L3-L4 to L5-S1. No evidence of spinal canal/ neural foraminal narrowing, or nerve root impingement is seen at any level. Non-specific benign-appearing signal abnormality involving the S1 superior endplate, likely representing degenerative bony sclerosis Incidental finding of a moderate-sized simple cyst involving the left kidney. “many subtle signal abnormalities particularly in the cervical cord. These may be artifacts…explore the possibility that these may be due to vitamin B12 deficiency (subacute combined degeneration)”
  21. 21. HISTORY OF PRESENT ILLNESS 1 Month PTA (April 2010): Still ambulatory but noted marked difficulty lifting his Right leg Limps when he walks and had difficulty walking up stairs Could not effortlessly get up from a sitting position Decreased arm swing when ambulating Imperceptible weak grip on the right hand had now become distinct and unmistakable.
  22. 22. CON’T Patient was again subjected to an MRI of the cervical spine with Gadolinium. Review of the images revealed normal findings. The impression of the physician at that time was Amyotrophic Lateral sclerosis versus Primary Lateral sclerosis. Advised admission for further work up of possible ALS vs PLS, including Lumbar Puncture and analyses of CSF.
  23. 23. PAST MEDICAL HISTORY: No history of hypertension, diabetes, stroke/ TIA, cancer, aneurysm, recent trauma, surgeries, heart disease, thyroid disease, or hospitalizations FAMILY HISTORY: No family history of hypertension, diabetes, cancer, stroke, aneurysm, or movement disorder
  24. 24. PERSONAL AND SOCIAL HISTORY: A Mechanical Engineer working as a mechanic supervisor at an International Hotel Non-smoker, occasional alcoholic beverage drinker (3-5 bottles once a month), denies history of illicit drug use He denies exposure to any toxic gas/ chemical, insecticide, or radiation. Drinking water comes from Maynilad and is filtered and boiled.
  25. 25. REVIEW OF SYSTEMS GENERAL/HEENT: (-) weight loss, (-) colds, (-) sore throat, (-) ear fullness, (-) tinnitus CHEST/LUNGS: (-) difficulty of breathing; (-) shortness of breath, (-) cough CARDIAC: (-) palpitations, (-) orthopnea/ dyspnea, (-) chest pain, (-) diaphoresis, (-) easy fatigability ABDOMINAL: (-) abdominal pain, (-) nausea/ vomiting, (-) abdominal enlargement GENITOURINARY: (-) dysuria, (-) frequency, (-) hesitancy, (-) incontinence
  26. 26. PHYSICAL EXAMINATION General Survey Awake, not in cardio-respiratory distress Vital Signs BP: 110/70, supine mmHg HR: 74 bpm RR: 19 cpm T: 36.1˚ C Anthropom etrics Ht.: 172 cm Wt: 85 kg BMI:28.7 kg/m2 (Obese I) HEENT Pink palpebral conjunctivae, anicteric sclerae, no gross head lesions; trachea midline no palpable cervical lymphadenopathies, no thyroid enlargement or distended neck veins; no carotid bruits Chest/Lun gs No chest deformity, equal chest expansion, no rales, no wheezing, no rhonchi CVS Adynamic precordium, normal rate, regular rhythm, Apex beat and PMI at 4th ICS LMCL, no heaves, no gallops, no murmur Abdomen Flat, no lesions, no abrasions, lacerations, hematoma, normoactive bowel sounds, no guarding, no masses, no organomegaly Extremities Full and equal pulses, no edema, no cyanosis, good capillary refill Rectal Intact anal wink, with good sphincteric tone. Empty recal vault
  27. 27. NEUROLOGICAL EXAMINATION Mental Status Exam Awake, coherent, good attention, oriented, intact word registration, can do serial 7’s, intact immediate, recent and remote memory, can identify watch and pen, can do word repetition, follows 3-step commands, No ideational or ideomotor apraxia, no visual or tactile neglect, can do interlocking fingers Cranial Nerves I Can identify coffee II Pupils isocoric 2mm BRTL, intact direct and consensual light reflex, no visual field cuts bilaterally; fundoscopy: (+) ROR, no hemorrhages, AV ratio 2:3, distinct disc margins; CD ratio 0.3 III, IV, VI Full EOM’s, no ptosis V Intact V1 - V3, to pain, temperature and touch; Brisk corneal reflexes bilaterally VII No facial asymmetry, can raise brow, frown, smile VIII Intact gross hearing, AC > BC, AU, non-lateralizing IX,X Uvula midline with intact gag
  28. 28. 28 Motor Exam Θ Θ Spastic right upper and lower extremity. Normal tone on the left upper and lower extremity, normal muscle bulk. No rigidity, no observable fasciculation UPPER Right Left Shoulder Flexion 5/5 5/5 Shoulder Extension 5/5 5/5 Shoulder Abduction 5/5 5/5 Shoulder Adduction 5/5 5/5 Elbow Flexion 5/5 5/5 Elbow Extension 5/5 5/5 Pronation 5/5 5/5 Supination 5/5 5/5 Wrist Extension 4/5 5/5 Wrist Flexion 4/5 5/5 Finger Extension 4/5 5/5 Finger Flexion 4/5 5/5 Grip 4/5 5/5 NEUROLOGICAL EXAMINATION
  29. 29. Motor Exam Θ LOWER Right Left Hip Flexion 4/5 5/5 Hip Extension 4/5 5/5 Hip Adduction 4/5 5/5 Hip Abduction 4/5 5/5 Knee Flexion 3/5 5/5 Knee Extension 3/5 5/5 Plantar Flexion 3/5 4/5 Dorsiflexion 3/5 4/5 Eversion 3/5 4/5 Inversion 3/5 4/5 Toe Flexion 3/5 4/5 Toe Extension 3/5 4/5 Cerebellar Function No nystagmus, no dysdiodochokinesia, no dysmetria Pathologic Reflexes Θ Bilateral Babinski’s and Hoffmann’s signs, R>L. Absent palmo-mental reflex. Bilateral ankle clonus R>L NEUROLOGICAL EXAMINATION
  30. 30. DTR’s Right Left Brachioradialis +++ ++ Biceps +++ ++ Triceps +++ ++ Patellar +++ +++ Plantar +++ +++ Sensory Exam No sensory level, intact to pain, temperature, touch, vibration and position sense, (-) Romberg’s Test Right Left Upper extremity 100% intact 100% intact Lower extremity 100% intact 100% intact Meninges Supple neck; absent Kernig’s and Brudzinski’s signs Gait Θ Wide-based gait with decreased stride length and decreased arm swing on the right with absent heal-strike/ toe-off on the right (flat foot down). Dorsiflexion of the toes on leg swing. (Waddling Gait) Tilting of the right hip on mid-stance. Swings right leg with tilted right hip to turn left. NEUROLOGICAL EXAMINATION
  31. 31. COURSE IN THE WARD Admitted for Lumbar Tap:  Obtained was 10-15cc of free flowing CSF with slight turbidity.  Opening pressure was 22 cmH2O  Closing pressure of 16.5cmH2O  CSF analysis, routine and CALAS, HSV, oligoclonal bundle IgG, VDRL, TB PCR  Vitamin B12; thyroid function test Asymptomatic all through out the hospital stay Discharged the following day
  32. 32. LABS CBC 5/21 Hgb 141 (N) Hct 0.42 (N) RBC 4.71 (N) WBC 6.50 (N) MCH 30 (N) MCHC 0.34 (N) MCV 88 (N) RDW 13.5 (N) Platelet 227 (N) N 0.74 (N) L 0.24 (N) M 0.02 (N) E 0.01 (N) Morph Normocytic, Normochromic BLOOD CHEMISTRY 5/21 BUA 6.1mg/dL (N) TSH 1.73 µIU/L (N) FT3 2.22 pg/mL (N) FT4 0.82 ng/mL (N) Total PSA 0.48 ng/mL (N) RBS 108 mg/dL (N) Vitamin B12 409.30 pg/mL (N) CSF 5/21 Volume 0.0140 L Appearance Colorless/ Clear Supernatant Fluid Colorless/ Clear RBC 60.00 WBC 0.00 Total Cell Count 60.00 DIFFERENTIAL COUNT N 0.00 L 0.00 M 0.00 Total Protein 32.29 mg/dL (N) Glucose 58.72 mg/dL (N) MTC PCR Negative CSF Immunofixation Electrophoresis No oligoclonal band detected
  33. 33. LOCALIZATION OF THE LESION
  34. 34. SALIENT FEATURES 44/M, 1 year duration of right-sided weakness Weakness pattern: right foot -> right leg - > right knee -> right arm -> right hand Went for a second opinion No known comorbidities Occasional alcoholic beverage drinker Non-smoker No family history of stroke, movement disorder Intact cortical function, Intact cranial nerves, Intact cerebellar function, Intact sensory function, Absent meningeal signs Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; Left- sided weakness (⅘) from knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing
  35. 35. PERTINENT ANCILLARY FINDINGS EMG-NCV: Acute bilateral lower radiculopathy affecting L5-S1 roots MRI: ● Cervical Spine: Spondylosis at C4-C7 ● Lumbar Spine: Small right paracentral disc protrusion at L2-L3 causing stenosis and indentations ● Cranial: Bilateral frontal and parietal white matter signals; non-specific, non- enhancing signal abnormalities, a finding commonly associated with chronic migraine headaches and chronic small vessel disease ● Cervical: Heterogeneous marrow signal, compatible with hematopoietic marrow conversion
  36. 36. UMN OR LMN? Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; ⅘ from left knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing
  37. 37. UMN OR LMN? Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; ⅘ from left knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing
  38. 38. WHERE IS THE LESION? Intact cortical function Intact cranial nerves Intact cerebellar function Intact sensory function Absent meningeal signs
  39. 39. WHERE IS THE LESION? Intact cortical function ● Awake, coherent, good attention, oriented ● Intact word registration ● Can do serial 7s ● Intact immediate recent and remote memory ● Can identify watch and pen ● Can do word repetition ● Follows 3-step commands ● No apraxia
  40. 40. WHERE IS THE LESION? Intact cortical function Intact cranial nerves ● Identify coffee ● Pupils BRTL, intact light reflex ● Full EOMs ● Intact V1 to V3 sensory, Brisk corneal reflexes ● No facial asymmetry ● Intact gross hearing ● Midline uvula with intact gag ● Tongue midline with good articulation
  41. 41. WHERE IS THE LESION? Intact cortical function Intact cranial nerves Intact cerebellar function Intact sensory function Absent meningeal signs
  42. 42. WHERE IS THE LESION? Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; ⅘ from left knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing
  43. 43. Localize: Spinal Cord prior to AHC WHERE IS THE LESION? Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; ⅘ from left knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing Lateralize: Left Levelize: Spinal
  44. 44. LOCALIZE: SPINAL CORD Spastic right upper and lower extremity Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes; ⅘ from left knee to toes Bilateral Babinski, Bilateral Hoffman, Bilateral ankle clonus, Hyperreflexia on right upper extremity and both lower extremities Waddling gait, wide-based with decreased arm swing
  45. 45. PATHOPHYSIOLOGY Spastic right upper and lower extremity Bilateral Babinski Bilateral Hoffman Bilateral ankle clonus Hyperreflexia on right upper extremity and both lower extremities
  46. 46. PATHOPHYSIOLOGY Loss of descending central inhibitory control
  47. 47. PATHOPHYSIOLOGY Loss of descending central inhibitory control Hypersensitive muscle spindles
  48. 48. PATHOPHYSIOLOGY Loss of descending central inhibitory control Hypersensitive muscle spindles Intrafusal muscle fibers remain activated (prestretched)
  49. 49. PATHOPHYSIOLOGY Loss of descending central inhibitory control Hypersensitive muscle spindles Intrafusal muscle fibers remain activated (prestretched) Disturbed regulatory circuit
  50. 50. PATHOPHYSIOLOGY Loss of descending central inhibitory control Hypersensitive muscle spindles Intrafusal muscle fibers remain activated (prestretched) Disturbed regulatory circuit Spastic tone and hyperreflexia
  51. 51. PATHOPHYSIOLOGY Right-sided weakness (⅗-⅘) from wrist, hands, hips, knees, ankles, to toes Left-sided weakness (⅘) from knee to toes Waddling gait, wide-based with decreased arm swing
  52. 52. PATHOPHYSIOLOGY ● Corticospinal and Rubrospinal tracts ● Project to the distal musculature ● Primarily responsible for voluntary movements, precise, highly differentiated, fine motor control Lateral Group
  53. 53. PATHOPHYSIOLOGY ● Corticospinal and Rubrospinal tracts ● Project to the distal musculature ● Primarily responsible for voluntary movements, precise, highly differentiated, fine motor control ● Reticulospinal, Vestibulospinal, and Tectospinal tracts ● Innervate motor neurons lying more medially in the AHC ● Primarily responsible for movements of the trunk and lower limbs Lateral Group Medial Group
  54. 54. WORKING IMPRESSION: PRIMARY LATERAL SCLEROSIS
  55. 55. DIFFERENTIAL DIAGNOSIS
  56. 56. IS THERE A LESION? YES
  57. 57. Where is the lesion? Upper Motor Neuron Lower Motor Neuron
  58. 58. Where is the lesion? Spinal Supraspinal
  59. 59. WHERE IS THE LESION? Upper Motor Neuron Lesion at the Spinal Level What is the lesion?
  60. 60. UPPER MOTOR NEURON LESION Genetic-congenital Traumatic Infectious Psychogenic Iatrogenic Toxic Metabolic (Inherited versus Acquired) Neoplastic Inflammatory – immune Vascular Degenerative History Adult onset -44 years old Chronic Progressive Ascending Affecting one side of the body Unremarkable family history No history of trauma No known exposure to toxic chemicals / occupational hazards No previous surgeries No history of fever, weight loss No pain Laboratory results Imaging studies Adams and Victor’s Principles of Neurology 10th edition Physical Examination Stable vital signs, afebrile No involuntary movements (+) Babinski, R (+) Spasticity (+) weakness of R UE & LE
  61. 61. PRIMARY LATERAL SCLEROSIS Degenerative upper motor neuron lesion at the spinal level
  62. 62. PRIMARY LATERAL SCLEROSIS Clinical manifestations Patient’s Case 5th decade of life 44 y.o. Upper motor neuron lesion (+) Babinski Progressive spasticity (+) Clumsiness tripping during practice, difficulty putting on right shoe, instability during ambulation MRI – cortical atrophy and increased T2 signal in pyramidal tracts Absent Electrodiagnostic test – absent LMN involvement Radiculopathy; findings not suggestive of a diffuse motor Braddom’s Physical Medicine and Rehabilitation 5th Ed (2016)
  63. 63. MILLS’ SYNDROME Idiopathic, slow progressive, ascending spastic hemiparesis Symptoms started in a leg Mean onset of 59 years Mildly elevated CSF protein MRI demonstrated focal T2 hyper-intensity located eccentrically in the cervical cord ipsilateral to the symptomatic side Jaiser, S.R., Mitra, D., Williams, T.L. et al. Mills’ syndrome revisited. J Neurol 266, 6 (2019).
  64. 64. INITIAL IMPRESSION to consider Mills’ syndrome
  65. 65. DIAGNOSTICS/IMAGING
  66. 66. LUMBAR MRI PLAIN 9/9/2009 67
  67. 67. LUMBAR MRI IMAGES (PLAIN) Mild spondylosis, L2-L3. Small right paracentral disc protrusion, L2-L3, causing right lateral recess stenosis, right ventral thecal sac and the exiting right L3 nerve root indentations. Posterior disc bulges with annular fissures, L3-L4 to L5-S1, with mild thecal sac indentation at L3-L4 and L4-L5. Renal cyst, left. 71
  68. 68. EMG-NCV Evidence of bilateral (right more than left) lumbar radiculopathy affecting L2/L3 roots 72
  69. 69. CRANIAL MRI IMAGES (PLAIN) 11/12/2009
  70. 70. 75
  71. 71. Bilateral frontal and parietal white matter signals, which maybe seen in microvascular ischemic changes, demyelination or in migraine headache. No evident acute infarct, mass or hemorrhage. Nasal congestion. 78
  72. 72. CERVICO-THORACIC MRI WITH CONTRAST 11/18/2009
  73. 73. Spondylosis, C4-C7. Circumferential disc bulges, C4-C5 to C6-C7 with mild ventral subarachnoid space indentation 83
  74. 74. SECOND OPINION OF NEUROIMAGING Few non-specific, non-enhancing signal abnormalities involving the cerebral white matter, a finding commonly seen in association with chronic migraine headaches and chronic small vessel ischemic disease. Mild lumbar spondylosis, demonstrating a small central and right paracentral disc protrusion at L2-L3 and mild disc bulges from L3-L4 to L5-S1. No evidence of spinal canal/ neural foraminal narrowing, or nerve root impingement is seen at any level. Non-specific benign-appearing signal abnormality involving the S1 superior endplate, likely representing degenerative bony sclerosis Incidental finding of a moderate-sized simple cyst involving the left kidney. “many subtle signal abnormalities particularly in the cervical 84
  75. 75. CERVICAL CONTRAST MRI 4/17/2010
  76. 76. 88
  77. 77. Heterogenous marrow signal, compatible with hematopoietic marrow conversion Otherwise no other abnormality seen involving the cervical spinal column No evidence of focal disc herniation, spinal canal/ neural foraminal narrowing or cord compression is seen at any level. No intrinsic cord signal abnormality identified 90
  78. 78. EMG-NCV DATE FINDINGS Lower Extremities and back 9/18/20 09  There is evidence for bilateral (right side more than the left) lumbar radiculopathy affecting L2/L3 roots. Upper extremities and neck 12/18/2 009  Evidence for an acute bilateral lower lumbar radiculopathy affecting the S1 and/or L5 roots.  There are no findings at that time suggestive of a diffuse motor neuron disease, myopathy, or neuropathy
  79. 79. MANAGEMENT
  80. 80. There is no cure for PLS Riluzole, the only FDA approved drug for ALS, has not shown any clear benefit in patients with PLS. Spasticity:  FIRST LINE ORAL AGENTS: baclofen, tizanidine, or valium.  For patients who achieve some benefit with anti-spasticity drugs, but are limited by sedating side- effects, a trial of intrathecal baclofen may be useful Excess oral secretions or drooling:  Most patients will be first tried on oral anticholinergic medications – amitriptyline, scopolamine, glycopyrrolate, or atropine drops.  For drooling unresponsive to oral therapies botulism toxin injections into submandibular glands may be beneficial Pseudobulbar affect:  Combination of dextromethorphan and quinidine (Neudexta) may prove beneficial.  If Neudexta does not work: Tricyclic antidepressants may prove beneficial. Primary Lateral Sclerosis, Statland et. al, Neurol Clin. 2015 November ; 33(4): 749–760.
  81. 81. REHABILITATION - Strategies for rehabilitation must be designed to the targeted patient population depending on disease impact and natural history. - Patients with primarily spinal involvement tend to progress over six stages with common clusters of rehabilitation needs in each, although individuals can vary considerably and straddle stages rather than fall neatly into one.
  82. 82. Stage 1 patients who are ambulatory and fully independent, with mild weakness or clumsiness - need to maintain active range of motion, carry on with normal activities of daily living, but can benefit from strengthening unaffected muscle. - strengthening all muscles, including affected muscles, with caution for overwork damage is reasonable Stage 2 remain ambulatory and independent but have moderate weakness - Functional impairment may be severe in some areas despite preserved overall function. - Often benefit from ankle-foot orthoses to compensate for foot drop - Dorsiflexion assist: should be avoided in patient with plantar flexion spasticity - A wrist-hand orthosis to assist with wrist drop is often needed. - An opponens splint can be used to accommodate lack of thumb opposition from thenar muscle weakness - Hand weakness also commonly makes buttoning difficult: assistive devices to ease this task are helpful. - Focal weakness of the cervical extensor muscles leading to head drop or chin-on-chest deformity is a common problem: cervical orthoses to stabilize the cervical spine may help provide some relief but are sometimes poorly tolerated. - Work simplification can be useful at this stage. - Exercise prescription is similar to stage 1 Stage 3 patients who remain ambulatory but have severe weakness in selected muscle - Common problem: inability to rise from a chair. - Lift chairs and elevated toilet seats can mitigate this problem. - Ambulation aids i.e., a walker, can be helpful and a manual wheelchair for
  83. 83. Stage 4 patients who are nonambulatory but remain independent - Electrically powered chairs are usually appropriate. - Exercise is limited to any unaffected muscles - Utilization of range-of-motion exercises is still useful. - A hospital bed facilitates bed mobility. Stage 5 the patient is no longer independent - Transfer assistance, with devices such as Hoyer lifts, is generally required. - Family education is a large part of the care of the patient. - A wheeled shower chair is often helpful for these patients. - A lack of mobility makes pressure relief measures in the wheelchair and bed higher priorities. Stage 6 completely bedridden, dependent, and requiring maximal assistance - Proper positioning is important to keep patients as comfortable as possible. - Pressure relief and skilled caregivers are critical. - Palliative care becomes the focus of treatment.
  84. 84. PROGNOSIS A question of great concern to PLS patients is whether their condition will convert to ALS. Patients who do not have lower motor neuron findings after four years typically remain with clinically pure upper motor neuron dysfunction with a normal lifespan. There are, however, a few reported cases of PLS patients developing late slowly progressive lower motor neurons and EMG findings, even several decades later Primary Lateral Sclerosis, Statland et. al, Neurol Clin. 2015 November ; 33(4): 749– 760.
  85. 85. THANK YOU!

Hinweis der Redaktion

  • The INFORMANT of this history and physical exam is the Patient and his Wife which suggests good reliability
  • A plain cranial MRI was done which revealed the following findings. With non-specific findings on cranial MRI, a cervico-thoracic contrast MRI was subsequently done to rule out cervical spinal myelopathy.
  • With persistence of the deficits affecting the right lower and upper extremities, a second opinion was sought for the first two neuroimaging studies (MRI of the head and lumbosacral spine), findings included the following:

  • The first step in localization in neurology is to determine whether it is an upper motor neuron or a lower motor neuron.
  • Now that we know it is an upper motor neuron, we will look at the structures ABOVE the anterior horn cell.
  • Now that we’ve localized it to the spinal cord, let’s correlate the findings with the pathology

    Here is an image of a cross-section of the spinal cord along with the main and accessory motor tracts
  • The muscle spindles respond more sensitively to stretch than normal. This hypersensitivity is due to a loss of descending central inhibitory control of the fusimotor cells (γ motor neurons) that innervate the muscle spindles.
    The intrafusal muscle fibers are, therefore, permanently activated (prestretched) and respond more readily than normal to further stretching of the muscle
  • If you damage the upper motor neuron, there is loss of descending central inhibitory control of the fusimotor cells (γ motor neurons) that innervate the muscle spindles.
  • The muscle spindles respond more sensitively to stretch than normal.
  • The intrafusal muscle fibers are, therefore, permanently activated (prestretched) and respond more readily than normal to further stretching of the muscle.
  • Since your muscle fibers remain activated and your muscle spindles are hypersensitive, the regulatory circuit is disturbed. The upper limb flexors and lower limb flexors, especially, are set to an abnormally short target length.
  • The overall result is spastic increased tone and hyperreflexia, as well as so-called pyramidal tract signs and clonus.

    Among the pyramidal tract signs are certain well-known findings in the fingers and toes, such as the Babinski sign

    The accessory motor pathways clearly play an important role, because an isolated, purely cortical lesion does not cause spasticity
  • The motor tracts in the spinal cord are anatomically and functionally segregated into two groups: a lateral group, comprising the corticospinal and rubrospinal tracts, and a medial group, comprising the reticulospinal, vestibulospinal, and tectospinal tracts.

    The lateral tracts mainly project to the distal musculature (especially in the upper limbs) and also make short propriospinal connections. They are primarily responsible for voluntary movements of the forearms and hands, i.e., for precise, highly differentiated, fine motor control.

    The medial tracts, in contrast, innervate motor neurons lying more medially in the anterior horn and make relatively long propriospinal connections. They are primarily responsible for movements of the trunk and lower limbs (stance and gait).
  • The motor tracts in the spinal cord are anatomically and functionally segregated into two groups: a lateral group, comprising the corticospinal and rubrospinal tracts, and a medial group, comprising the reticulospinal, vestibulospinal, and tectospinal tracts.

    The lateral tracts mainly project to the distal musculature (especially in the upper limbs) and also make short propriospinal connections. They are primarily responsible for voluntary movements of the forearms and hands, i.e., for precise, highly differentiated, fine motor control.
  • The motor tracts in the spinal cord are anatomically and functionally segregated into two groups: a lateral group, comprising the corticospinal and rubrospinal tracts, and a medial group, comprising the reticulospinal, vestibulospinal, and tectospinal tracts.

    The lateral tracts mainly project to the distal musculature (especially in the upper limbs) and also make short propriospinal connections. They are primarily responsible for voluntary movements of the forearms and hands, i.e., for precise, highly differentiated, fine motor control.

    The medial tracts, in contrast, innervate motor neurons lying more medially in the anterior horn and make relatively long propriospinal connections. They are primarily responsible for movements of the trunk and lower limbs (stance and gait).
  • No bulbar signs
  • Genetic –congenital – u/r family hx; adult onset
    Traumatic – no hx of trauma
    Infectious – no hx of fever, afebrile during admission, no hx of recent travel, absent other signs of infectious process (labs), no growth in GS/CS of CSF

    Psychogenic disease (or psychogenic illness) is a name given to physical illnesses that are believed to arise from emotional or mental stressors, or from psychological or psychiatric disorders. (no history)

    Iatrogenic - Iatrogenic disease is the result of diagnostic and therapeutic procedures undertaken on a patient. With the multitude of drugs prescribed to a single patient adverse drug reactions are bound to occur. (no surgical hx, no hx he underwent therapeutic / diagnostic procedures)

    Toxic – no hx exposure to chemicals/occupational hazards,

    Metabolic disease – acquired - encephalopathy – change in sensorium (absent in the patient); inherited (Tay-sach’s and Gaucher disease have other systemic symptoms which are not found in the patient)

    Neoplastic – no fever, no weight loss, no pain, usual neoplastic process in the spinal cord is metastatic, not present as ascending hemiparesis, not evident on imaging, blood tumors (dermatological findings , labs WBC count 100, 000 to 400,000 not found in the patient)

    Inflammatory – immune process – take up gadolinium dye

    Vascular - MRI – chronic small vessel ischemic disease – common in 95% of 60-90 years old (cognitive decline, problems with walking or balance, strokes, vascular dementia) , Small vessel ischemic disease
    White matter disease
    Periventricular white matter changes
    Perivascular chronic ischemic white matter disease of aging
    Chronic microvascular changes, chronic microvascular ischemic changes
    White matter hyperintensities
    Age-related white matter changes
    Leukoaraiosis

    Vascular changes in the spinal cord would show signs of ischemia in MRI (not seen in the patient’s imaging studies)

    Degenerative – 44 years old, degenerative findings in the spine (spondylosis), chronic small vessel ischemic disease
  • EMG-NCV – no evidence of motor neuron
  • Associated with progressive spasticity and weakness of limb and bulbar muscles related to degeneration of UMNs
    It is rare and typically seen in the fifth decade
    Little or no involvement of LMN
    Progresses more slowly
    Unilateral leg spasticity, later involving the other leg approximately 1 to 2 years after, then progressing to the upper limbs 3 to 4 years later
    Eventually showing pseudobulbar involvement in 1 to 2 years later
    Mills syndrome – a hemiplegic variant of PLS
    Late in the disease – bladder dysfunction
    CLINICALLY TESTED
    Transcranial magnetic stimulation may be the confirmatory test, abnormal or absent potentials
  • Clinical diagnosis
  • There is no cure for PLS. Most treatment strategies aim at alleviating symptoms and improving functioning. Non-medication approaches to PLS include physical and occupational therapy for range of motion exercises, gait and balance training, and evaluation for assistive devices.
    Riluzole, the only FDA approved drug for ALS, which provides a modest increase in survival of about 3 months, has not shown any clear benefit in patients with PLS.
    For spasticity first line oral agents would include baclofen, tizanidine, or valium. For patients who achieve some benefit with anti-spasticity drugs, but are limited by sedating side-effects of oral agents, a trial of intrathecal baclofen may be useful – and subsequent baclofen pump placement.
    Management of excess oral secretions or drooling is similar to that used for ALS. Most patients will be first tried on oral anticholinergic medications – amitriptyline, scopolamine, glycopyrrolate, or atropine drops.
    For drooling unresponsive to oral therapies botulism toxin injections into submandibular glands may be beneficial.
    For pseudobulbar affect (bouts of uncontrollable laughter and crying) the combination of dextromethorphan and quinidine (Neudexta) may prove beneficial. Tricyclic antidepressants may prove beneficial for patients in whom Neudexta does not work.

    Recommendation:
    Periodic evaluation with physical and occupational therapy
    Oral anti-spasticity drugs
    Consider baclofen pump
    Oral anticholinergic agents for drooling, or botulism toxin injections
    Combination dextromethorphan and quinidine, or tricyclic antidepressants for pseudobulbar affect
  • A question of great concern to PLS patients is whether their condition will convert to ALS.
    A small fraction of ALS patients initially present with pure upper motor neuron findings, but most develop lower motor neuron signs and EMG findings within four years.
    Patients who do not have lower motor neuron findings after four years typically remain with clinically pure upper motor neuron dysfunction with a normal lifespan.
    There are, however, a few reported cases of PLS patients developing late slowly progressive lower motor neurons and EMG findings, even several decades later
  • Currently, there are no treatments that can dramatically counteract the effects or stop progression of most MNDs.
    There are no medications available with major disease modifying capacity in the field of MNDs
    Treatment strategies are designed to reduce the symptomatic impact on patients with MNDs

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