30th Aug 2021

ICRI CASE OF THE WEEK

Contributed by : Dr. G. Ananta Ram, Dr. Sahithi Nalla
Department of Radio-diagnosis
Krishna Institute of Medical Sciences
Secunderabad, Telangana

Copyright of the Case belongs to : Dr G. Ananta Ram

CLINICAL HISTORY:

• 12 year old male child, born from second degree consanguineous marriage,
presented with difficulty in swallowing for solids and liquids since 2 months.

• Difficulty in speaking since 2 months.
• Pulling of left upper limb.
• Birth & Development – Normal.

ON EXAMINATION:

• Bifacial weakness – present.
• Tongue weakness – present.
• Palatal weakness – present.
• DTR –Normal.
• No motor weakness

CLINICAL DIFFERENTIAL DIAGNOSIS:

1) Myasthenia gravis
2) Polyneuritis cranialis

• Patient was advised for Magnetic Resonance Imaging of Brain.













• What are the findings?
• What are the signs demonstrated?
• What is the provisional diagnosis?
• What are the differential diagnosis to be considered?

• T2 weighted Magnetic resonance imaging showing Bilateral symmetrical
hyperintense signal changes in the putamen, caudate nuclei & ventrolateral thalami.

T2 weighted Magnetic resonance imaging showing hyperintense signal changes in
midbrain, predominantly involving tegmentum with sparing of red nucleus, superior
colliculi and lateral pars reticulate of substantia nigra showing “Face of giant panda sign”.

• T2 weighted Magnetic resonance imaging showing hyperintense signals in dorsal
pons, sparing of central tegmental tracts showing “Face of miniature panda sign”.

• FLAIR Magnetic resonance imaging showing Diffuse hyperintense signal changes
noted involving pons with sparing of periphery.

• Diffusion weighted images showing facilitated diffusion restriction involving
bilateral caudate nuclei, putamen & ventrolateral thalami.

• Bilateral globus pallidi, substantia nigra and red nuclei showing
blooming On SWI sequence.

• Magnetic Resonance Imaging of Brain showing :

• Bilateral symmetrical T2 hyperintense signal along the putamen, caudate nuclei,
ventrolateral thalami, midbrain (predominantly involving tegmentum with
sparing of red nuclei, superior colliculi and lateral pars-reticulate of substantia
nigra showing “Face of giant panda sign”)and dorsal pons (sparing of central
tegmental tracts) – showing “Face of miniature panda sign”.

• “Face of giant panda sign” and “Face of miniature panda sign” – Double panda
sign.

• Diffuse FLAIR hyperintense signal changes noted involving the pons with sparing
of the periphery. Facilitated diffusion restriction noted involving bilateral
caudate nuclei, putamen, ventrolateral aspect of thalami and dorsal aspect of
pontomesencephalic junction.

• Bilateral globus pallidi, substantia nigra and red nuclei show blooming on SWI
sequence.

• With the following MRI findings, Wilsons disease was suspected, and
the patient was re-examined.

• Found to have KF (Kayser - Fleischer) ring in the cornea.

• CERULOPLASMIN- 1.87 (22-61) mg/dl

DISCUSSION

• Wilson’s disease results from abnormal ceruloplasmin metabolism, as
a result of a variety of mutations in the ATP7B gene. Total body
copper is elevated, that has toxic effects on hepatocytes with copper
deposition and resulting damage to a variety of organs, e.g. liver and
brain.

• The putamen and globus pallidus are rich in mitochondria, vascular
supply, neurotransmitters, and chemical content compared with
other areas in the brain, and their high metabolic activity and
increased utilization of glucose and oxygen make them vulnerable to
metabolic abnormalities and many systemic or generalized disease
processes.

• The most commonly affected regions are bilaterally symmetrical
areas in putamen, pons, thalami, caudate nucleus, midbrain and
globus pallidus. The regions of brain that are less often affected by
WD are the temporal lobe, parietal lobe, frontal lobe, cerebellum and
corpus callosum. No abnormalities are observed in the occipital lobe
or medulla oblongata.

• Abnormal signals caused by edema and demyelination can disappear
after proper de-coppering therapy.

Features of Wilson’s Disease in MRI are:

• Bilaterally symmetrical T2 hyperintensities in putamen (a common
finding), globus pallidus, caudate nuclei, and thalami. Thalamic
involvement is typically confined to the ventrolateral aspect. The
cortical and subcortical regions, mesencephalon, pons, vermis, and
dentate nuclei may also be involved.

• Involvement of the midbrain tegmentum with sparing of red nucleus,
superior colliculi and lateral pars-reticulata of substantia nigra can
appear as a Face of the giant panda sign on axial T2 images.

• Axial T2 MR at dorsal pons (sparing of central tegmental tracts) may
also show the face of a miniature panda sign (cub of the giant panda).
This combination is referred to as the Double panda sign .

• Diffusion restriction is often seen in the early stages of the disease.

• Treatment options for Wilson Disease are drugs that chelate copper,
and those that prevent gastrointestinal copper absorption like
Dimercaprol, pencillamine, zinc salts.

• T2-hyperintensity lesions can be reversible in treatment responders,
while persistent or progressive hyperintense lesions on T2-weighted
images reflect therapy failure.

DIFFERENTIAL DIAGNOSIS:

The closest differential diagnosis is Leigh Disease.

• Bilateral symmetrical hyperintensities are seen in bilateral basal
ganglia, thalami and brainstem.

• Putamen involvement is a consistent feature in Leigh disease.
• Wilson disease is seen in older children, while Leigh syndrome is seen

in infancy.
• Ventrolateral aspect of thalamus is involved in Wilsons disease.
• Substantia nigra, which is spared in Wilsons disease, may be involved

in Leigh syndrome

TEACHING POINTS:

• Wilsons disease, with typical MRI findings, is demonstrated.

• Typical MR findings demonstrated in this case:
• Bilateral symmetrical T2 hyperintense signal along the putamen, caudate

nuclei, ventrolateral thalami, midbrain (predominantly involving tegmentum
with sparing of red nuclei, superior colliculi and lateral pars-reticulata of
substantia nigra showing “Face of giant panda sign”)and dorsal pons (sparing
of central tegmental tracts) – showing “Face of miniature panda sign”.
• Diffuse FLAIR hyperintense signal changes noted involving the pons with
sparing of the periphery. Facilitated diffusion restriction noted involving
bilateral caudate nuclei, putamen, ventrolateral aspect of thalami and dorsal
aspect of pontomesencephalic junction.

• Bilateral globus pallidi, substantia nigra and red nuclei show blooming on SWI
sequence.

• Closest differential diagnosis is Leigh Disease.

Differentiating features seen in Leigh Disease are :
• Putamen involvement is a consistent feature in Leigh disease.
• Leigh syndrome is seen in infancy.
• Substantia nigra, which is spared in Wilsons disease, may be involved

in Leigh syndrome.

REFERENCES:

1) X.-E. Yu, S. Gao, R.-M. Yang and Y.-Z. Han
American Journal of Neuroradiology January 2019, 40 (1) 178-183; DOI:
https://doi.org/10.3174/ajnr.A5936
2) Jacobs DA, Markowitz CE, Liebeskind DS et-al. The "double panda sign" in
Wilson's disease. Neurology. 2003;61 (7):
969. doi:10.1212/01.WNL.0000085871.98174.4E - Pubmed citation
3) Andersen K, Südmeyer M, Saleh A. Cerebral imaging for Wilson disease.
Rofo 2007;179:225–33.
4) L. Medina1’2 T. L. Chi1’3 0. C. DeVivo4 S. K. Hilal’ AJNR 11:379-384,
March/April 1990; AJR 154:1269-1274, June 1990
5) Prayer L. Wimberger D, Kramer J, et al. Cranial MRI in Wilson’s disease.
Neuroradiology 1990 ;32:211-14 doi:10.1007/BF00589114 pmid:2215906
6) Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: clinical features and
biochemical and DNA abnormalities. Ann Neurol. 1996;139(3):343–51.