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CASE CONFERENCE Ap. 박신혜 / R3 박민지
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CASE 1
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F/58 김OO Past Hx. C/C Binocular horizontal diplopia
UL ptosis (OU) since 1 month ago Past Hx. DM/HBP (-/-) Hypothyroidism – Hormone Tx. Ocular op/trauma(-/-) 2007, Lt. orbital myositis diagnosed at local Gls (-) Eye drop (-) Local 경유 신경외과 brain evaluation 이후 본과 내원함. no diunrnal fluctuation.
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Ocular Examination VA OD 0.8 OS 0.63 IOP 17/17 mmHg Lid UL ptosis, bilateral Conj not injected Cornea clear Pupil round & nl sized, RAPD(-/-) Lens mild cortical opacity / OU 우안의 내전, 상전, 외전, 하전 장애 모두 관찰됨.
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10XT l 14XT, 5 RHT - 10XT, 3 RHT - 14XT, 3RHT 10XT, 10RHT
특히 심한 우안의 ptosis 와 우안의 확연한 하전장애, 외전, 내전장애가 있으며 좌안도 mild 한 ptosis와 함께 내전, 외전장애가 관찰된다.
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Cue list XT with RHT OD : Infraduction Abduction, Adduction
Sudden onset Diplopia Bilateral upper lid ptosis Ophthalmoplegia Underlying Hypothyroidism Orital Myositis Hx. OD : Infraduction Abduction, Adduction OS : Abduction, Adduction
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Differential diagnosis
#1 Thyroid associated strabismus #2 Myositis related myopathy #3 Myasthenia gravis #4 Pupil spared 3rd n. palsy #5 Chronic XT
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Orbit CT Thyroid ophthalomopathy 감별위해 촬영했는데 정상 Brain MRI 는 정상
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Differential diagnosis
#1 Thyroid associated strabismus #2 Myositis related myopathy #3 Myasthenia gravis #4 Pupil spared 3rd n. palsy #5 Chronic XT Combined with 6th n palsy? Not explained as only cranial palsy Sudden onset, diplopia symptom(+)
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Diagnostic plan 1) Hx taking -> symptom : variable and fatigable diurnal fluctuation+ 2) ICE test ICE test 도 괜찮고, Ach receptor 도 정상범위였지만 임상적으로 MG 강력히 의심되어 추가 검사 위해 신경과 의뢰함.
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Diagnostic plan 1) Hx taking -> symptom : variable and fatigable diurnal fluctuation+ 2) ICE test : suspicious 3) Ach Receptor Ab test ICE test 도 괜찮고, Ach receptor 도 정상범위였지만 임상적으로 MG 강력히 의심되어 추가 검사 위해 신경과 의뢰함.
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Second Visit Ach Receptor Ab : 0.11 (<0.5) 18XT l
20XT, 5 RHT - 18XT, 5 RHT - 20XT, 5RHT 18XT, 10RHT 2번째 내원당시 우리가 시행했던 Ach Ab는 음성이였다 Ptosis는 심해졌고 사시각도 이전보다 커졌다. 임상적으로는 ~~~ 의뢰했다
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Differential diagnosis
#1 Thyroid associated strabismus #2 Myositis related myopathy #3 Myasthenia gravis #4 Pupil spared 3rd n. palsy #5 Chronic XT → Neurology consultation
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Neurology consultation
1) Neostigmine test : positive 2) Jolly test (repetitive nerve stimulation) <Right orbicularis orculi > At 3 Hz stimulation: decremental response Post exercise(10 sec) stimulation at minutes: recover decremental response Post exercise(10 sec) stimulation at 1, 2 minutes: reappearance of decremental response -> other muscle : no decremental response 4mm/7mm 6mm/8mm 7mm/9mm Thyroid H 는 정상, TPO ab 만 Chest CT : 정상 Start PO Mestinon tab. 90mg (Pyridostigmine)
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Summary Patient with Diagnosed as Ocular Myasthenia Gravis
1) XT combined HT 2) UL ptosis 3) Symptom : variability, fatigability 4) AchR Ab : negative 5) Ice test : suspicious 6) Neostigmine test, Jolly test : positive Diagnosed as Ocular Myasthenia Gravis This case is about the paie
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CASE 2
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M/21 장OO Past Hx. C/C Binocular diplopia since 7 month ago
DM/HBP (-/-) Hyperthyroidism – Hormone Tx. Hx. (poorly controlled) Ocular op/trauma(-/-) Gls (+) Eye drop (-) Diurnal fluctuation. +
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Ocular examination VA OD (0.8) OS (1.0) IOP OD 14 mmHg OS 13 mmHg Conj. not injected(OU) Cornea clear(OU) AC deep & cell(-)(OU) Pupil round & nl sized, LR(+)(OU) Lens clear(OU)
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30XT, 6RHT l 25XT, 4RHT XT, 6RHT XT, 6RHT 25XT, 10RHT
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Cue list XT with RHT OD : Adduction Infraduction, Abduction
Sudden onset Diplopia Ophthalmoplegia Underlyng Hyperthyroidism OD : Adduction Infraduction, Abduction
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Differential diagnosis
#1 Thyroid associated strabismus #2 Myasthenia gravis #3 Chronic XT
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Orbit CT
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Differential diagnosis
#1 Thyroid associated strabismus #2 Myasthenia gravis #3 Chronic XT Sudden onset, Diplopia symptom (+)
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Diagnostic plan 1) Hx taking : variability, fatigability diurnal fluctuation + 2) AchR Ab test
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→ Neurology consultation
Second visit 1) AchR Ab level : 1.31 (above normal range) 2) Prism cover test 35 XT l 25XT XT, 5 RHT XT, 6 RHT 25 XT, 10 RHT =>variability (+) → Neurology consultation
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Neurology consult Start PO Mestinon tab. 90mg (Pyridostigmine)
1) Neostigmine Test : positive Upward gaze 안검열 거리 (mm) Baseline : 15secs Baseline : 9 / 9 Neostigmine inj. 15mins : 40secs Neostigmine inj. 15mins : 10 / 10 Neostigmine inj. 30mins : 25secs Neostigmine inj. 30mins : 11 / 11 Neostigmine inj. 45mins : 20secs Neostigmine inj. 45mins : 11 / 11 2) Jolly test : positve - Rt. orbicularis oculi muscle : NMJ disorder 시사하는 전기생리학적 이상소견 + - other muscle : WNL 내분비내과는 consult 해서 MTZ 복용시작 Chest CT는 정상 Rt. abductor digiti minimi, Rt. trapezius and Rt. orbicularis oculi muscles Start PO Mestinon tab. 90mg (Pyridostigmine)
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After po medication 1month
Symptom : nearly disappeared Occasionally diplopia occured X(T) 40 PD, RHT 4 PD /sc X(T)' 20 PD , RHT 4 PD /sc
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Summary Patient with 1) XT combined HT
2) Symptom : variability, fatigability 3) AchR Ab : positive 4) Neostigmine test, Jolly test : positive Diagnosed as Ocular Myasthenia Gravis
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THANK YOU
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REVIEW OCULAR MYASTHENIA GRAVIS
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Introduction Autoimmune disorder Vs. Cranial palsy
ptosis and or diplopia weakness of the EOM, levator palpebrae superioris, orbicularis oculi, without dysfunction of other muscles. Vs. Cranial palsy - variable and fatigable ocular muscle weakness - presence of normal pupillary function
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EPIDEMIOLOGY Incidence : 0.04 to 5/100 000/year
Prevalence : 0.5–12.5/ /year No racial or geographic predilection Any age group : first decade or >70 yrs – less common Onset <40 years, women predominate (mean,28 years) Onset >40 years, men predominate (mean, 42 years)
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PHYSIOLOGY Ach : stimulates nicotinic AChRs
but not muscarinic AChRs at the postsynaptic junction * The pupillary sphincter muscle is devoid of nicotinic AChRs -> the pupils are unaffected in MG motor nerve axon의 termination membrane 에서 action potential depolarizing 으로 neurotransmition 이 시작되고, calcium permeability가 증가되고 Ach 이 분비 된다.
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Classification of MG (3) Transient neonatal myasthenia gravis
(1) General form (2) Ocular form If myasthenia gravis remains ocular for 1 year, -> the progression to generalized MG is 16%, If disease remains localized for 3 years, -> the progression to generalized MG is only 6% (3) Transient neonatal myasthenia gravis (4) Congenital myasthenia gravis (5) Drug induced myasthenia gravis (6) Neuromuscular junction blockade
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Diagnosis Diagnosing MG – can be difficult
because the disease may mimic any pupil-sparing pattern of ocular misalignment When History of weakness and fatigability, especially involving the eyelids and extraocular muscles, raises the suspicion of MG * Clinical symtom & sign / Testing
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Clinical symptom & Sign
① Lid ptosis a. Enhanced ptosis. ‘curtaining’ : valuable diagnostic sign b. Upgaze for 2 min : ptosis often worsens c. Lid hopping or small amplitude movements of the lid during lateral gaze d. Cogan’s lid twitch or Reverse’ Cogan’s lid twitch e. nystagmus : unilaterally or bilaterally in MG without an apparent ophthalmoparesis a. 상방향 주시시 피로 (‘정면’ vs. ‘상방향 주시 2분 후 정면 주시’에서의 위눈꺼풀의 위치) b. 눈꺼풀 움찔 수축(Cogan’s lid twitch) (5초 하방 주시 후 정면 주시시, overshoot(위로치켜떠짐)→다시 쳐지면서 ‘twitch’) ‘Reverse’ Cogan’s lid twitch, a similar small downward movement of the lid elicited by a saccade to primary position from upgaze, c. 눈꺼풀 떨림 (hopping) (한쪽 지속적 주시시, 짧게 떨림.) d. 증강된 눈꺼풀 처짐 ( enhanced ptosis. ‘curtaining’ 징후) (더쳐진 눈꺼풀을 들어올리면 눈꺼풀올림근을 올리려는 흥분이 줄어 덜 처졌던 눈꺼풀이 처지게 됨. 특징적이지는 않음. 진정한 한눈 눈꺼풀처짐과 구별(ex.Horner)) e. 눈꺼풀 뒤당김 (한눈 처짐시, 반대 눈에 / 아래 보게 하면 없어짐(vs. 갑상샘 눈병증))
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Clinical symptom & Sign
② Diplopia a. Paralysis of the CN VI.> CN III or IV. 등처럼 보일 수 있음. b. EOM weakening : MR, IR, SO – commonly involved c. Limitation of EOM : supraduction> Infraduction> Abduction a. paralysis of the CN VI.> CN III or IV. 등처럼 보일 수 있음. 마비사시 환자 볼 때 근육무력증의 가능성 고려 (경과관찰 중 약화된 근육이 자주 바뀐다는 점이 신경마비와 구분되는 점) b. 외안근의 약화 : 내직근, 하직근, 상사근 자주 침범 우리나라 눈근무력증 어린이: 외사시(+/- 수직사시) c. 눈운동 장애 : 상전장애> 하전장애> 외전장애 ③ Weakening of Orbicularis oculi 눈 꽉 감고 상대방이 억지로 눈을 벌렸을 때 저항이 적음. - peek 징후 – 눈을 감고 있으면 피로로 오히려 눈이 뜨여짐. - afternoon ectropion : 오후되면 아래눈꺼풀이 늘어짐. ③ Weakening of orbicularis oculi a. Peek sign b. Afternoon ectropion
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Testing AChR antibody assays
Found in up to 87% of patients with generalized myasthenia gravis But only in 50–80% with OMG (correlate poorly with the clinical status) 2) Muscle-specific kinase (MuSK) antibodies 39-49% of patients with AChR-antibody-negative MG have positive MuSK MusK positive MG : Female dominant. Frequent oculobulbar weakness and crisis Seronegative MG : Ach receptor Ab(-), muscle specific kinase Ab (-) => high prevalence cranial & bulbar muscle involvement, result respiratory difficulty 10-30분의 휴식
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Testing 3) Antibodies against skeletal muscle
In almost all myasthenic patients with thymoma 30% of myasthenic patients without thymoma Do not appear to play a significant role in the pathogenesis of MG 4) Chest imaging with either computed tomography (CT) or MRI Thymic hyperplasia (as many as 70%) or thymoma (10–15%) 10-30분의 휴식
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Testing 5) Thyroid studies
Thyroid dysfunction : up to 13% of patients with MG Both are are common autoimmune diseases and may possibly share similar pathogenetic mechanisms Th17 cell lineage : involved in autoimmune thyroid disease key factor in the development of both MG and Graves disease TAO with exotropia consider superimposed OMG - TAOs are esotropic because of the preferential involvement of MR 10-30분의 휴식
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Testing 6) Sleep/rest test
: improved function after 10–30 min of rest or sleep 7) Ice test : quick & effective clinical method used in the evaluation of ptosis - for 2 min improved ptosis in 80% of patients with MG 10-30분의 휴식
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Testing 8) IV edrophonium (Tensilon) or IM Prostigmine (neostigmine) test main side effect : bradyarrhythmias 9) Electromyography (EMG) and nerve conduction excellent diagnostic test confirming the diagnosis in seronegative myasthenia gravis patients
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Management 1) Cholinesterase inhibitors : first line of treatment
- Improve more often in ptosis than diplopia - Do not affect the natural history of the disease 2) Corticosteroids : very effective in controlling symptoms - Lowering the risk of progression from OMG to generalized MG - Safety of chronic low-dose prednisone therapy (<10mg/day) : serious complications with a 2-year risk of approximately 1% less serious complications had a 2-year risk of approximately 39%
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Management 3) IV immunoglobulin and plasma exchange
: Useful for acute exacerbations including myasthenic crisis or in the perioperative period after thymectomy - suppressing antibody production and neutralizing autoantibodies (accelerating the catabolism of IgG) 4) Prism or occlusion therapy : Viable option for remained diplopia 5) Strabismus surgery : Very select group of patients (stable strabismus)
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Oral corticosteroids on control of ocular symptoms.
Effects of oral corticosteroids showed a benefit in terms of reducing the risk of progression to generalized MG . Effects of azathioprine showed a beneficial effect on the risk of progression to generalized MG Effects of thymectomy showed no benefit in terms of improvement in ocular symptoms or risk of progression to generalized MG
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MuSK : form and maintain neuromuscular junction, including clustering of AChRs. IgG anti-MuSK Ab : deplete MuSK from postsynaptic membrane
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MuSK MG : Female, Acute, Aggrasive
LPr4 MG :not detect in AchR MG Rituximab: IgG1 monoclonal Ab - Good effect - but, multifocal leukoencephalopathy Tacrolimus : combined Tx with Steroid MMF : no effective MTX New Treatment
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TAKE HOME MESSAGE 어떤 증상의 환자에게서 MG를 의심해야 하는가? 1. 복시와 눈꺼풀처짐이 동반되는 경우
2. 증상이 아침 .저녁 변화가 있는 경우 3. 성인의 복시가 동반되는 사시(특히 외사시) 의 경우 급성 사시를 의심해야 하며, 이때 MG를 감별해야 함 3. 사시(특히 외사시)와 수직사시가 동반된 경우 4. 사시와 함께 한눈운동/동향운동의 제한이 있는 경우 5. 경과관찰 중 한눈운동/동향운동의 변화가 있는 경우
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THANK YOU
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