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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??
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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)
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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
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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
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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)
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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
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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
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•
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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. ___________