Magnetic resonance imaging in the diagnosis of hepatolenticular degeneration

Magnetic resonance imaging in the diagnosis of hepatolenticular degeneration

E.V. Ovchinnikova^1,2,3, B.O. Shcheglov¹, S.A. Gulyaev⁴

Elena V. Ovchinnikova, e-mail: ovchinnikovaelv@mail.ru

¹Far Eastern Federal University, Vladivostok

²V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg

³Primorsky Regional Clinical Hospital No. 1, Vladivostok

⁴National Research Nuclear University MEPhI, Moscow

Background: hepatolenticular degeneration (HLD) occupies a special place among natural clinical models for the study of neurodegenerative processes. Neuroimaging methods make it possible to identify morphological abnormalities during the patient’s lifetime. However, the diversity of magnetic resonance imaging (MRI) findings complicates the selection of markers that adequately reflect the different forms of HLD. Therefore, the issue of refining MRI diagnostic criteria for HLD cannot yet be regarded as resolved.

Aim: to investigate the MRI characteristics of the brain in 100 patients with genetically confirmed neurological forms of HLD in order to identify diagnostic criteria.

Materials and Methods: molecular genetic testing was performed using Sanger sequencing of the ATP7B gene. Brain MRI was carried out using Magnetom Impact scanners (Siemens, Erlangen) with a magnetic field strength of 1.0–1.5 T, acquiring T1- and T2-weighted images in the sagittal and axial planes.

Results: MRI abnormalities in brain structures were detected in 54% of cases. Of these, 39% represented MRI phenomena considered specific to HLD. It was established that the frequency of visualization of specific MRI phenomena depends less on the type of ATP7B gene mutation than on the patient’s age, disease duration, severity of clinical manifestations of HLD, and the nature of the motor deficit. The "giant panda face" MRI sign was frequently visualized in the early stages of tremor hyperkinesia development (43.75% of cases); symmetric foci of altered signal intensity simultaneously involving several basal ganglia predominated in patients with late diagnosis of generalized dystonia (61.1%); isolated foci of altered signal intensity in the globus pallidus and thalamus were characteristic of patients with focal dyskinesias; and lesions in the region of the dentate nucleus, substantia nigra, red nuclei, and other structures of the medulla oblongata were typical of patients with the tremor-rigid form (80%).

Conclusion: brain MRI data is one of the most important criteria for diagnosing HLD, which can be used for the early disease diagnostics and evaluation of the drug treatment efficacy.

Keywords: hepatolenticular degeneration, Wilson’s disease, brain MRI, neuroimaging, ATP7B gene, motor deficit.

For citation: Ovchinnikova E.V., Shcheglov B.O., Gulyaev S.A. Magnetic resonance imaging in the diagnosis of hepatolenticular degeneration. RMJ. 2026;4:2–6. DOI: 10.32364/2225-2282-2026-4-1