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disease
UNIT III
ASSOCIATE PROFESSOR:
DR.V.USHA PADMINI M.D.,
ASSISTANT PROFESSORS:
DR.P.RAJAMAHENDRAN M.D.,
D R . G . A N U R E K H A M . D .,
CASE HISTORY
No H/O headache
No H/O head injury
No H/O drug intake
No H/O fever
No H/O dogbite / vaccinations
No H/O yellowish discolouration of urine
No H/O abdominal pain
No H/O altered sensorium
No H/O altered bowel habits
No H/O seizures
No H/O loss of consciousness
Clinical Photographs
Past History
3rd degree
consanguinous
marriage
Autosomal Recessive Inheritance
General Examination
Patient conscious
CVS : S1S2 heard
Responds to oral commands
Thin built
Ill nourished RS: NVBS +
No added sounds
Slurring of speech
Pallor +
Abdomen: Soft
Not Icteric No organomegaly
No cyanosis /No clubbing
No significant generalised lymphadenopathy
No neurocutaneous markers
CNS examination
Higher Mental Functions: VITALS:
Patient awake
Alert BP: 90/60 mm/Hg
Responds to commands Pulse: 94 /min
occasionally RR:16/min
Slurring of Speech SpO2: 99%
Right handed
Inappropriate laughter
Normal
MOTOR SYSTEM RIGHT LEFT
SUPERFICIAL REFLEXES:
- -
POWER RIGHT LEFT
Upper limb:
Shoulder : Abduction 5/5 5/5
Adduction 5/5 5/5
Elbow : Flexion 5/5 5/5
Extension 5/5 5/5
Wrist : Flexion 5/5 5/5
Extension 5/5 5/5
Lower limbs:
Thigh : Flexion 5/5 5/5
Extension 5/5 5/5
External /Internal Rotation 5/5 5/5
Knee : Flexion 5/5 5/5
Extension 5/5 5/5
Foot : Dorsiflexion 5/5 5/5
Plantar flexion 5/5 5/5
DEEP REFLEXES RIGHT LEFT
Jaw jerk Normal
Biceps Jerk C5, C6 ++ ++
Triceps Jerk C6,C7,C8 ++ ++
Supinator jerk C5, C6 ++ ++
Knee jerk L3,L4 ++ ++
Ankle Jerk S1,S2 + +
Cerebellar Signs:
UL: Finger Nose Test Not cooperative Not cooperative
Finger Nose Finger Test Not cooperative Not cooperative
Dysdiadochokinesia absent absent
LL : Knee Heel Test Not cooperative Not cooperative
Serum
ceruloplasmin 24 hrs urine copper
6 mcg/day
<3 mg/dl
Slit lamp
examination
reveals
Kayser
Fleischer
Rings
Neurologist Opinion
-WILSON’S
DISEASE
MRI BRAIN
DIAGNOSIS
• Age • KF ring
• Tremors
• 2nd decade • Serum ceruloplasmin
• Involuntary mvts low
• Rigidity
Treatment
Physiotherapy
Sibling Screening
Early onset
Parkinson’s
disease
Neurodegeneration
with Brain Iron
Accumulation
Neuro
Acanthocytosis
WilSOn’S disease
Wilson’s disease
WilSOn’S diSEASE
s
pathogenesis
Decreased ATP 7B
s
Pathology
Presymptomatic
Asymptomatic with only hepatic abnormalities
Hepatic disease
Chronic active hepatitis
Cirrhosis with hepatic insufficiency
Active hepatitis with /without hemolytic anemia
Clinical features
Psychiatric symptoms
Hematologic abnormalities:
Neuroses to Psychoses
Hemolytic anemia
Ophthalmic
manifestations
Kayser
Fleischer Ring
Sunflower
Cataract
Reversible
with
treatment
Diagnosis
Serum Ceruloplasmin
(<20mg/dl)
s
Non immunopathic
hemolytic anemia
Unconjugated
hyperbilirubinemia ALP/ Bilirubin < 4
Chelating Agents
BAL
Penicillamine Maintenance therapy
Trientene Zinc
f
Chelating agents
Chelating agents
remove copper from
potentially toxic
sites within cells
and detoxify and
excretes it.
Chelating agents
Penicillamine Trientene
-Acts by blocking
intestinal absorption
of dietary copper.
-Stimulates the
biosynthesis of
endogenous chelators
in liver like
metallothioneins.
Zinc in the treatment
Zinc Therapy
INDICATIONS:
Wilsonian acute liver failure
Severe hepatic insufficiency unresponsive to therapy.
x
Chelating therapy Zinc
1 2 3 4
Schiff ‘s hepatology
Harrison’s textbook of Internal Medicine, 19th edition
EASL clinical Practical Guidelines: Wilson’s disease,
Journal of Hepatology.
Wilson’s disease emedicine, Medscape.
Thank you
C