Article

'Face of giant panda': A rare imaging sign in Wilson's disease

Abstract

A 26-year-old girl presented with fever and jaundice at 17 years of age followed by generalized tonic clonic seizures, right hand postural tremor, reduced school performance, inappropriate laughter and slowness of activities 2 years later. She also reported dystonic posturing of the right upper and lower limb with drooling of saliva. She had a positive Kayser–Fleischer …
Clinical picture
‘Face of giant panda’: a rare imaging sign in Wilson’s disease
A 26-year-old girl presented with fever and jaundice
at 17 years of age followed by generalized tonic
clonic seizures, right hand postural tremor, reduced
school performance, inappropriate laughter and
slowness of activities 2 years later. She also reported
dystonic posturing of the right upper and lower limb
with drooling of saliva. She had a positive Kayser–
Fleischer ring bilaterally on ocular examination.
Neurologic examination revealed dystonia of the
right arm and leg, bradykinesia and rigidity of
limbs. Laboratory tests revealed low serum cerulo-
plasmin (0.1 g/l, normal range 0.2–0.6 g/l) and
copper (247.3 mg/l, normal range 510–1610 mg/l)
and high 24-hr urinary copper (38.6 mg/l, normal
range 2–30 mg/l). MRI Brain revealed
(i) ‘Face of giant panda’ in the midbrain on T2W
images
1
(Figure 1—high signal intensity in the teg-
mentum except the red nucleus forming ‘eyes’, pres-
ervation of signal intensity in lateral portion of pars
reticulata of substantia nigra forming ‘ears’ and
hypointensity in the superior colliculus forming
‘mouth’).
The most common radiological abnormalities
described in Wilson’s disease are changes in signal
intensity of grey and white matter especially T2W
hyperintensities in putamen (particularly lateral
side), globus pallidus, thalamus, caudate, subthala-
mic tegmental region, red nucleus, substantia nigra
and dentate nucleus.
2
Atrophy of the head of the
caudate nucleus, brainstem, cerebral and cerebellar
hemispheres is also common.
2
The ‘Face of giant
panda’ sign was first described by Hitoshi et al. in
1991.
1
The ‘panda’ is not frequently reported,
though the sign is considered characteristic of
Wilson’s disease.
2
Acknowledgements
A.G. drafted the manuscript. All authors reviewed
and edited the manuscript.
Photographs and text from: A. Gupta, S.
Chakravarthi and M.K. Goyal, Department of
Neurology, PGIMER, Chandigarh 160012, India.
email: goyal_mk@yahoo.com
Conflict of interest: None declared.
References
1. Hitoshi S, Iwata M, Yoshikawa K. Mid-brain pathology of
Wilson’s disease: MRI analysis of three cases. J Neurol
Neurosurg Psychiatry 1991; 54:624–6.
2. van Wassenaer-van Hall HN. Neuroimaging in Wilson
disease. Metab Brain Dis 1997; 12:1–19.
Figure 1. T2-weighted axial MRI demonstrates the ‘face
of the giant panda’ in the midbrain (arrow).
!The Author 2013. Published by Oxford University Press on behalf of the Association of Physicians.
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Q J Med 2014; 107:579
doi:10.1093/qjmed/hct217 Advance Access Publication 29 October 2013
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... im frühen Stadium sogar fehlen [4]. Auch "typische" MR-tomografische Veränderungen sind selten [2]. Die Therapie erfolgt mit Chelatoren, die die renale Kupferausscheidung erhöhen. ...
... T2w-sensitive Veränderungen der Basalganglien, die an das Gesicht eines großen Panda-Bären erinnern. Bildquelle [2]. ...
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Die Erstsymptome des Morbus Wilson können vielfältig sein; neurologisch, hepatisch oder psychiatrisch. Das Erkrankungsalter liegt typischerweise in der 2. und 3. Lebensdekade. Wir berichten über die Neudiagnose eines Morbus Wilson bei einem 15-Jahre alten Jungen. Er wurde wegen einer akuten Exazerbation seiner bekannten, aber bisher nicht eingeordneten dystonen Bewegungsstörung vorgestellt. Die Symptomatik war durch beinbetonte muskuläre Hypertonie mit Rigor, Kloni und abnormen Körperhaltungen, postura- le Instabilität, Hypophonie, Hypomimie, Sialorrhoe, Angst- und Panikattacken sowie pathologischem Lachen gekenn- zeichnet. Akut präsentierte sich der Patient in einer akinetisch-katatonen Krise. Die native MR-Tomografie zeigte sym- metrische, hyperintense Signalalterationen (T2) in den Basalganglien, die jedoch nicht dem seltenen, aber als typisch beschriebenen Muster des „face of the giant panda“ entsprachen. In der Spaltlampenuntersuchung konnte der typische Kayser-Fleischer-Kornealring dargestellt werden. Die Verdachtsdiagnose eines Morbus Wilson konnte laborchemisch (erniedrigtes Serum-Kupfer und Serum-Coeruloplasmin, erhöhte Kupfer-Ausscheidung, leicht erhöhte Transaminasen), histopathologisch (erhöhter Kupfer-Gehalt in der Leberbiopsie) und letztlich genetisch (homozygote Mutation im ATP7B-Gen) gesichert werden. Eine schnelle Beendigung der akuten akinetisch-katatonen Krise konnte durch eine Therapie mit L-Dopa/ Decarboxylase-Hemmer erreicht werden. Es wurde eine Chelator-Therapie eingeleitet, die zu ei- ner adäquat hohen Kupfer-Ausscheidung führte. Die neurologisch-psychiatrische Symptomatik besserte sich leicht, zu einer durchaus beschriebenen Verschlechterung der neurologischen Symptomatik unter Therapiebeginn kam es nicht. Die Spaltlampenuntersuchung nutzten wir als Erstscreening bei allen Familienmitgliedern mit positivem Befund bei al- len drei Geschwistern und dem Vater. Laborchemisch bestätigte sich die Diagnose bei allen. Ein Mädchen zeigt bereits ähnliche parkinsonoide Symptome (Dystonie, Rigor, Hypomimie) wie der Indexpatient, zwei Jungen und der Vater sind asymptomatisch. Alle betroffenen Familienmitglieder werden mit D-Penicillamin behandelt. Unter suffizienter Therapie ist die Erkrankung gut behandelbar und die Lebenserwartung nicht herabgesetzt. Bei dys- tonen Bewegungsstörung sollte auch im Kindes – und Jugendalter trotz geringer Leberbeteiligung an einen Morbus Wilson gedacht werden.
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