This presentation shows a case which presents with both basal ganglia ,thalamus and extensive white matter change

1. Dr.Md.Tanzilur Rahman
Resident,Phase-B
Department of Radiology and Imaging
Extensive gray and white matter abnormalities; An
unusual neurological presentation of wilson's disease

5. Synthia,14 yrs old girl came to BSMMU with the history of
fever,restlessness,headache,neck pain and non projectile vomiting for 15
days.She was diagnosed previosly as a case of Wilson disease one and half
years back and is on treatment.
USG suggests CLD.
EEG suggests diffuse encephalopathy with focal epileptiform discharges
over right temporal,parietal and occipital regions.
Her Urinary Cu level is 382 micro gram/L(normal <100).

6. • Wilson disease, also known as hepatolenticular
degeneration.
• Rare autosomal recessive disorder of copper
metabolism affecting multiple systems.

8. • It is a disorder that results from abnormal caeruloplasmin metabolism; a result
of a variety of mutations in the ATP7B gene. Total body copper is elevated with
deposition and resultant damage to a variety of organs, e.g. liver,cornea and
brain.
Markers:
• serum ceruloplasmin: reduced.
• free serum copper: increased.
• urinary copper: increased.

18. Copper deposition in Descemet’s membrane of the cornea. These
rings can be either dark brown, golden, or reddish-green, are 1 to 3
mm wide, and appear at the corneal limbus. With rare exceptions,
they are diagnostic of inherited hepatolenticular degeneration—
Wilson disease

20. • Neuroimaging features of Wilson disease may vary depending on
whether the disease is treated or untreated. The basal
ganglia and midbrain are the most frequently affected site.
• May demonstrate atrophic changes in the basal ganglia, cortical, and
cerebellar regions.
• non-enhanced: copper deposition does not increase density on CT
• post-contrast: lesions do not enhance

21. MRI
• T1WI:Initialy Hyperintensity in lentiform nucleus.
• T2WI: Hyperintensity typically involves the :
• basal ganglia
• putamen
• globus pallidus
• caudate nucleus
• thalamus: ventrolateral aspect
• T2 hyperintensity and/or T1 hyperintensity may present in the outer
rim of the deep gray matter in cases of copper toxicosis.(Bright
claustrum sign)
• Diffusion restriction may be seen early in the course of the disease.

37. WM and gray matter involvement in our case

40. D/D:Hypoxic-ischaemic encephalopathy
• Hypoxic-ischaemic encephalopathy in adults and older
children (i.e. not neonates), also known as global hypoxic-
ischaemic injury
Epidemiology:
• Occurs at any age, aetiology is significantly different.
• Older children: drowning and asphyxiation.
• Adults: Cardiac arrest or cerebrovascular disease, with
secondary hypoxemia/hypoperfusion.

41. Pathology: primarily affects the grey matter structures:
• basal ganglia
• thalami
• cerebral cortex (in particular the sensorimotor and visual cortices,
although involvement is often diffuse)
• cerebellum
• hippocampi
• The predominance of grey matter injury is due to its high metabolic
requirement for oxygen and glucose to supply a large number of
synapses. This makes grey matter more susceptible to hypoxic-
ischaemic injury.

42. MRI:
• T1 hyperintensities indicating cortical laminar necrosis(two weeks)
• T2WI-increased signal intensity and swelling of injured grey matters in
early subacute period (24 hours to 2 weeks).
• FLAIR- hyperintensity within a few days.
• DWI- earliest imaging modality to become positive, usually within the
first few hours,due to early cytotoxic oedema.

43. 20% people with WD have psychiatric feature before diagnosis.
4-33% patients with WD may have seizures.
Epileptic seizures are related to extensive cortical involvement.
In both these cases MRI shows extensive gray and white matter
abnormality.
This represents treatment failure and bad prognosis.
Conclusion and take home message

44. besides the basal ganglia and brainstem lesions in Wilson's Disease, gray
matter lesions may be more extensive and furthermore that white
matter abnormalities may also exist.
Extensive cortical and subcortical WM lesions specially in frontal lobe can
develop a severe neurological sequele of neuroleptic malignat
syndrome(NMS).
It can be a clue to radiologists for diagnosis of WD in case of psychiatric
manifestations.
Physicians should also be more careful when managing patients of WD
specially having extensive gray and white matter involvement.

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8.Neuro Wilson’s – An Alien Presentation Sivakami R. Pradeepkumar1, Ramesh Kumar Rudrappa2,
Sibhithran Rajakumar3