A 15-year-old male patient with no relevant family or personal history presented with mild jaundice and fatigue for several months. Subsequently, he developed progressive sialorrhea, dysarthria, motor clumsiness, fine generalized tremors, and declining academic performance.

Physical examination revealed bradylalia, impaired prosody, subtle head titubation, generalized fine tremor, and bradykinesia. He exhibited left-hand dystonia and absence of arm swing during walking.

Complete blood count (CBC) revealed anemia and thrombocytopenia. Liver function tests (LFTs) were mildly elevated. There were decreased serum copper and cerulo­plasmin levels as well as increased 24-hour cupruria.

Ophthalmologic examination with slit lamp revealed bilateral Kayser-Fleischer rings.

Abdominal ultrasound (US) showed splenomegaly.

Brain MRI showed diffuse T2/fluid-attenuated inversion recovery (FLAIR) hyperintensity in the bilateral basal ganglia and brainstem, with increased susceptibility in the putamina, substantia nigra, and red nuclei ( Fig. 70.1 ).

Wilson disease. Brain MRI, (A and B) axial FLAIR shows hyperintensity in the bilateral lentiform nuclei and central pons. (C) DWI shows focal restricted diffusion in the posterior putamina. (D and E) GRE shows increased susceptibility in the putamina, substantia nigra, and red nuclei. DWI , Diffusion-weighted imaging; FLAIR , fluid-attenuated inversion recovery; GRE , gradient echo.

Jaundice and neurologic signs can be seen in various forms of liver disease.

Acute liver injury has various etiologies including toxic, viral, and autoimmune hepatitis.

Chronic hepatitis can occur with or without cirrhosis. This can be sporadic or genetic, such as in Wilson disease (WD) or hemochromatosis.

Movement disorders can be caused by essential tremor, early-onset Parkinson disease, and generalized dystonia.

Psychiatric manifestations in WD include depression, bipolar disorder, schizophrenia, dementia, and substance use disorder.

Bilateral basal ganglia and brainstem abnormalities are seen in metabolic, infectious, and autoimmune conditions.

Metabolic diagnoses include mitochondrial diseases with basal ganglia involvement, such as Leigh syndrome. In acute episodes, there is usually more diffusion restriction and lactate peak on magnetic resonance spectroscopy (MRS). Disorders of biometal regulation (copper, iron, calcium) can present with increased susceptibility in the deep gray nuclei and variable signal abnormalities.

Viral or autoimmune encephalitis may affect the basal ganglia and brainstem, with mild edema and no or minimal enhancement. Susceptibility is not a characteristic imaging feature, except in cases of hemorrhagic transformation.