Teaching Case

19-year-old girl presented with mild tremors of hand in the last two months and giddiness, vomiting in the past two days. There was no significant history of similar complaints or other major illnesses in the patient's family. Neurologic examination showed subtle extra pyramidal symptoms and hence was referred for brain MRI.

Brain MRI showed bilateral symmetrical T2 and FLAIR hyperintensities involving lentiform nuclei, thalami extending to the tectum, periaqueductal region of midbrain, superior colliculi and floor of fourth ventricle. Involvement of the midbrain and pons revealed the characteristic  “double panda sign” which comprises the “giant panda sign” of midbrain and “miniature panda sign” of pons.

Ultrasonography of abdomen showed small sized liver with multiple well-defined hypoechoic focal lesions measuring 8-10mm scattered in both lobes of liver — suggestive of macronodular cirrhosis along with splenomegaly.

Diagnosis of Wilson’s disease is based on clinical evaluation along with biochemical and neuroimaging confirmation. Biochemical studies reveal a low serum cerruloplasmin level and increased urinary copper excretion. Hepatic copper estimation, of more than 250 g/g of dry tissue is the most definitive method of diagnosis [1].
Ultrasound is a very precise imaging modality to detect early parenchymal changes in the progress of the disease. In patients with Wilson's Disease, neuroimaging abnormalities occur in gray matter of lentiform, caudate and thalamic nuclei. Our patient also had gray matter abnormalities in the lentiform nuclei, thalami, midbrain and pons. On further ophthalmological examination Kayser-Fleischer rings were noted in bilateral cornea.Serum ceruloplasmin along with serum and urine copper studies established the diagnosis of Wilson’s disease in this case.
Cerebral atrophy with ventricular dilatation especially of the frontal horns and cerebellar atrophy are also frequently observed in Wilson's Disease [2 ] Even white matter lesions may occur, though much less frequently.
Diagnosis of Wilson’s disease is based on clinical evaluation along with biochemical and neuroimaging confirmation. Biochemical studies reveal a low serum cerruloplasmin level and increased urinary copper excretion. Hepatic copper estimation, of more than 250 g/g of dry tissue (Normal 15-55 mg/g) is the most definitive method of diagnosis [3] Ultrasound is a very precise imaging modality to detect early parenchymal changes in the progress of the disease.
In patients with Wilson's Disease, neuroimaging abnormalities occur in grey matter of lentiform, caudate and thalamic nuclei. Our patient also had grey matter abnormalities in the lentiform nuclei, thalami, midbrain and pons.
Wilson’s disease is an important differential diagnosis to be kept in mind in cases of bilateral symmetrical T2 an FLAIR hyperintensities in thalami, basal ganglia and brainstem in a young patient. The radiologist should alert the clinician to look for other clinical and laboratory markers for the same