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Neurology Case Presentation Dr. M. A. Sofi MD; FRCP (London): FRCPEdin; FRCSEdin Case history • 19 year old male admitted with acute onset generalized weakness for 1 day duration • Woke up with diffuse weakness; no anti gravity strength in arms, unable to get out of bed • Proximal > distal weakness; bilaterally symmetrical • Denied diplopia, dysphagia, dysarthria, facial droop, drooling or change in level of consciousness 2 Case history • PMH: similar episode in Feb 2013, admitted to local hospital for 4-5 days, ?? Diagnosed with GBS, ?? treated with plasmapheresis, no LP/ EMG • PMH: nil significant • Home meds: None • FH: Nil for HTN, migraine, DM, asthma, no similar problem in family members • SH: denies smoking, ETOH or illicit drug use 3 Physical exam • Vitals stable • General physical exam unremarkable • Neurological exam – Mental status: AAO * 3 – Speech : fluent with comprehension intact – CN 2-12: PERRLA, EOMI, normal facial sensation and symmetry, normal facial strength, hearing intact, equal palatal elevation and tongue midline 4 Case history – Motor: Flaccid tone, motor strength 2/5 proximally and 3-4/5 distally BUE and BLE – DTRs: Areflexic , planter both down going – Sensory: Intact to LT/PP/ Vibration and proprioception – Unable to test for cerebellar function and gait 5 Case scenario Where?? What?? 6 Labs • Hb - 14.6, WBC 6.1, Plt count 215 • Sodium 143, K 1.3, Chloride 110, BUN 13, Creatinine 0.83, Glucose 151, Calcium 9.3, Magnesium 2.0, Phosphorus 2.4 • CK 493, Aldolase 15.7 (on day 3) • TSH: 2.082, free T3 – 3.8, free T4 – 0.9 • Urine electrolytes: unremarkable 7 Hospital course • Aggressive Potassium replacement • Started showing improvement in muscle strength on day 1 • By day 2 – strength was 5/5 BUE and BLE • Diagnosed with familial hypokalemic periodic paralysis • Discharged with follow up care 8 Muscle channelopathies The skeletal muscle genetic ion channelopathies are a distinct group of diseases caused by mutations which mainly occur in voltage-gated ion channel genes. They can be classified in to 2 categories – non dystrophic myotonias and periodic paralyses. NDMs are a group of conditions characterized by muscle stiffness on voluntary movement due to delayed skeletal muscle relaxation. This group includes : • Myotonia congenita • Paramyotonia congenita • Sodium channel myotonias • (potassium-aggravated myotonias (PAMs) • Myotonia fluctuans • Myotonia permanens • Acetazolamide responsive myotonia The NDMs are mainly distinguished clinically from the dystrophic myotonias, myotonic dystrophy types 1 and 2, by the absence of extramuscular systemic involvement. Muscle channelopathies The periodic paralyses are a group of autosomaldominant disorders characterized by episodes of flaccid paralysis often triggered by an alteration in serum potassium concentration. They include • hypokalemic periodic paralyses type 1 and 2, • hyperkalemic periodic paralysis and • Anderson Tawil syndrome Muscle channelopathies • Non dystrophic myotonias – Myotonia congenita (CLCN1) – Paramyotonia congenita (SCN4A) – Sodium channel myotonias (potassium aggravated myotonias) (SCN4A) • Periodic paralyses – Hypokalemic (CACNA1S/ SCN4A) – Hyperkalemic (SCN4A) – Anderson Tawil syndrome (KCNJ2) 11 Periodic Paralysis Secondary • Hypokalemic: – Thyrotoxic periodic paralysis – hyperaldosteronism – RTA – villous adenoma – cocaine binge – diuretics, licorice, steroids, ETOH • Hyperkalemic (k>7): – hyporenemic hypoaldosteronism (DM/CRF) – oral K, CRF, chronic heparin, rhabdomyolysis • Normakalemic: – Guanidine, sleep paralysis, MG, TIA, conversion 12 Hypokalemic periodic paralysis • • • • • • HypoKPP1 and 2 - CACNA1S/ SCN4A gene HypoKPP 1 is the most frequent form 1 in 100,000 Autosomal dominant inheritance pattern M:F – 3 or 4:1 Onset: first 2 decades of life 13 Clinical features • Flaccid paralysis – mild focal weakness to severe generalized weakness • Occur anytime of the day; more common in morning • Absence of myotonia • Proximal > distal weakness; legs > arms • Sparing of facial, ventilatory and sphincter muscles • Lasts several hours to more than a day 14 Effects of hypokalaemia on the ECG Changes appear when K+ falls below about 2.7 mmol/l • Increased amplitude and width of the P wave • Prolongation of the PR interval • T wave flattening and inversion • ST depression • Prominent U waves(best seen in the precordial leads) Apparent long QT interval due to fusion of the T and U waves (= long QU interval) 15 Hypokalemic periodic paralysis • Frequency: highly variable • Frequency decreases after age 30; may become attack free in 40s and 50s • Permanent fixed weakness or slowly progressive weakness more common with HypoKPP1 • Attacks may be preceded by sensation of heaviness and or aching in the low back 16 Precipitating factors • Strenuous physical activity followed by rest or sleep • High carb diet • ETOH consumption • Emotional stress • Concurrent viral illness • Lack of sleep • Medications like beta agonists, corticosteroids, and insulin 17 Diagnostic studies Serum K < 3.0mEq/L Serum CK level elevated EKG changes – U waves, flattening of T waves Provocative testing - Intravenous glucose load/ insulin • Electrophysiology – Sensory and motor NCS normal between attacks – During attacks – small CMAP. Reduced insertional activity, fibs and positive sharp waves – No myotonia on EMG – Short/ long exercise test 18 • • • • Treatment • Reducing exposure to known triggers • Acute treatment – replacement of K • Acetazolamide – prevent attack recurrence and severity – Acetazolamide may ppt weakness in HypoK PP2 • Dichlorphenamide – no longer available • Triamterene and spironolactone 19 A 38-year-old man, feeling poorly after finishing a marathon, was brought to the medical tent near the finish line. He had run three marathons in the past two years. He was confused, but not hypotensive; pulse was 130 beats/min; his weight was 4.5 kgm higher than at the start of the race. Electrolyte measurements on site included a serum sodium concentration of 118 mEq/L. The most likely proximate reason for the hyponatremia is: A. Cerebral salt wasting B. NaCl-wasting nephropathy C. Excessive intake of hypotonic fluid D.Excessive sweating A 60-year-old man with known lung cancer is seen in follow-up with no major symptomatic changes. His BP is 150/90 mmHg, pulse 86 and regular and he has no edema. Electrolytes reveal a serum sodium concentration of 125 mEq/L; BUN is 6mg/dl, uric acid is 2.8 mg/dl, and the urine osmolality is 280 mosm/kg. The most likely explanation for the hyponatremia is: A. Cerebral salt wasting B. Diuretic use/abuse C. SIADH D.Psychogenic polydipsia The most appropriate therapy for patient #2 is: A. Solute-free water restriction B. DDAVP C. Cortisone D.5% hypertonic saline 60 Year old presented with recurrent attacks of syncope 1. What does ECG rhythm strip show? _______ 2. What treatment is recommended? ________ 67 year old man presented with left side hemiplegia 1. Describe CT finding? ___ 2. What vascular territory is involved? _____ Presented with severe acute pain inability to move foot. 1. What is the diagnosis? _________ 2. What blood test has diagnostic value? _______________ A 65 year-old man with severe dyspnoea. The patient has a history of Chronic Obstructive Airway Disease (COAD), with regular use of bronchodilators. He is still a heavy smoker, but has no other relevant past history. On arrival, he is sweaty, distressed and peripherally cyanosed Vital Signs: RR 45/min intercostal recession Tempt 38 deg C BP 180/90 mmHg Upon arrival, arterial blood gases are taken (on 12L / min of O2): pH 7.15 (7.35 – 7.45) PO2 80 mmHg (80 – 95) PCO2 95 mmHg (35 -45) HCO3 42mmol/L (22 – 28) Base Excess + 17 (-3 - +3) SaO2 90% Name 2 abnormalities of blood gas analysis above? 1. ___________ 2. ___________