THE BONY PELVIS DR. AHMED ABDULWAHAB Assistant Professor, Consultant OBGYN Department.
Wilson’s Disease, A Disease to know Abdulwahab Telmesani FRCPC,FAAP Faculty of Medicine and...
-
Upload
flora-gray -
Category
Documents
-
view
222 -
download
3
Transcript of Wilson’s Disease, A Disease to know Abdulwahab Telmesani FRCPC,FAAP Faculty of Medicine and...
Wilson’s Disease, A Disease to know
Abdulwahab TelmesaniFRCPC,FAAP
Faculty of Medicine and Medical Science
Umm Al-Qura University
Case 1
A previously healthy, 9-year-old, right-handed
Female developed 2 episodes of focal seizure
with Todd’s paralysis
Martha D. Carlson Ped Neuro 2003
L.P and CSF exam was normal CT scan was normal EEG was abnormal Started on antiepileptic therapy
MRI done after the 2nd episode of seizure showed;
Bilateral signal abnormalities in the basal ganglia,
thalamus, and parietal lobe.
Hx showed change in her hand writing and speech
Normal hepatic transaminase Low ceruloplasmin A low serum copper An extremely elevated 24-hour urine
copper Ophthalmologic examination
confirmed Kayser-Fleisher rings.
Treated with oral tetrathiomolybdate (anti-copper therapy).
Followed by zinc maintenance. Clinically improved.
One-year follow-up MRI; Improvement in the parietal,
basal ganglia, and thalamic regions.
Martha D. Carlson Ped Neuro 2003
Case 2An 18 years old male with
the symptoms;Suicidal ideasDepressed moodPsychomotor slowingStuttering
Diagnosed as Schizophrenic
Received 2 years of psychotherapy
Patrick Stiller J Psych. Neurosci 2002
P/E; No Kayser -Fleischer ring Normal physical examination
Patrick Stiller J Psych. Neurosci 2002
Laboratory investigation; Low cerulplasmin high serum copper high 24 HR urine copper
Patrick Stiller J Psych. Neurosci 2002
Diagnosed as Wilson’s Disease.
Symptoms improved on D – Penicillamine
Patrick Stiller J Psych. Neurosci 2002
Case 3
19 year female diagnosed and treated as
Schizophrenic for 2 years without benefit
Patrick Stiller J Psych. Neurosci 2002
On admission found to have;
@ Dysarthria@ Slow movement (rigidity)@ No Kayser -Fleischer ring Patrick
Stiller J Psych. Neurosci 2002
Laboratory investigation;
@ Low cerulplasmin@ High serum copper@ Very high 24 HR urinary copper
Patrick Stiller J Psych. Neurosci 2002
Treatment;
@ Psychotherapy discontinued@ D-Penicillamine started@ Patient improved
Patrick Stiller J Psych. Neurosci 2002
Wilson’s Disease
Autosomal Recessive Disease The Gene ATP7B Mapped to chromosome 13
Wilson’s Disease
Low cerulplasmin Copper deposition in; liver, brain, kidneys, eyes, heart, Hemolysis
Wilson’s Disease
Glutathione in Hepatocytes protect against metal toxicity
G6PD maintain Glutathione
Wilson’s Disease
The age of presentation can vary from 4 to 60 years
We just recently reported on two siblings who had
identical ATP7B mutations that presented
differently and were not diagnosed until their
eighth decade of life
A. Ala, M.L. Schilsky / Clin Liver Dis (2004)
Wilson’s Disease
Presents in any of the following;
Wilson’s Disease
Early symptoms are vague and non-specific;
Lethargy Anorexia Abdominal pain Epistaxis
Hepatic WD
Acute liver disease Chronic liver disease Acute hepatic failure
Neuro./Psych. WD
Minimal neurological manifestations
Sever neurological manifestations
Psychiatric symptoms
Other WD presentations
Renal tubular acidosis Bony deformities Hemolytic anemia
Uncommon manifestations
hypercalciuria nephrocalcinosis, chondrocalcinosis osteoarthritis, sunflower cataracts cardiac manifestations.
One of the most characteristic features of
Wilson’s disease is that no two patients,
Even within a family, are ever quite alike.
P. FERENCI . Aliment Pharmacol Ther 2004
There is likely an even larger range of phenotypic expression than we presently recognize.
A. Ala, M.L. Schilsky / Clin Liver Dis (2004)
Family screening
A diagnosis of WD in an individual must alert the clinician to begin screeningfirst-degree relatives of identified
parents. Screening should be performed in very
one after the ages of 3 to 5 years.
Wilson’s Disease
Diagnosis
Wilson’s Disease
Liver biopsy and determination of hepatic copper
(Copper/gram dried liver tissue) is the golden standard for the
diagnosis of Wilson’s Disease
Wilson’s Disease
Diagnosis (neuro./ psych. WD) (strongly suggested ) based on at least two of the following;
Low serum Cerulplasmin High 24 HR urine copper K.F Ring
Ashish Bavdekar J Gastr & Hepat 2004
Wilson’s Disease
MRI for Diagnosis and Follow up
Wilson’s Disease
In the neuro. WD MRI shows lesions in the basal ganglia, cerebral white matter, midbrain, pons and cerebellum
Hyperintensity in globus pallidus in a 20-year-old female with the initial phase of the hepatic form of Wilson’s
Wilson’s Disease
MRI findings are reversible after treatment
Wilson’s Disease
How about the patient with acute hepatic failure,
liver biopsy is not possible and other lab
investigations are affected by the liver disease?
Alkaline phosphatase to total bilirubin ratio showed a good
Discriminative power in differentiating Fulminant Wilson’s
disease from Fulminant hepatic failure of other causes, and a
ratio <1 showed a 86% sensitivity and 50% specificity for
Fulminant Wilson’s disease diagnosis.
Pierre Tissières, MD; Pediatr Crit Care Med 2003
Wilson’s DiseaseDiagnosis (acute hepatic failure)
strongly suggested by the following;
Low Hgb (hemolysis) Bilirubin more than 6 times & transaminases
less than 4 times (AST more than ALT) Low Alkaline phosphates High serum Copper Low serum cerulopasmin in siblings
Ashish Bavdekar J Gastr & Hepat 2004
Wilson’s Disease
Treatment; D- Penicillamine Trientine Tetrathiomolybdate Zinc
The future
gene replacement therapy gene repair Hepatocytes transplantation
Q;
How many of the seizures patients are Wilson's Disease?
How many of psychiatry patients are Wilson's Disease?
How many of the undiagnosed liver disease patients are Wilson's Disease?
Q;
How many of FTT patients are Wilson's Disease?
How many of the undiagnosed hemolytic anemia patients are Wilson's Disease?
How many …? How many …? How many …?