• Muhammad Sohail Ajmal Ghoauri Bahawal Victoria Hospital, Quaid-e-Azam Medical College Bahawalpur Pakistan
  • Fatima Abbas Bahawal Victoria Hospital, Quaid-e-Azam Medical College Bahawalpur Pakistan
  • Nauman Ismat Butt Azra Naheed Medical College, Superior University Lahore Pakistan https://orcid.org/0000-0003-1022-0157
  • Muhammad Bilal Rasheed Azra Naheed Medical College, Superior University Lahore Pakistan
  • Malik Muhammad Awais Azra Naheed Medical College, Superior University Lahore Pakistan
  • Samrina Sadaf Aga Khan Medical Centre Gilgit Pakistan
Keywords: Wilson Disease, Copper, Ceruloplasmin, Pencillamine, MRI Brain.


A rare autosomal disease caused by altered copper metabolism, Wilson disease, primarily involves liver and basal ganglia of the brain and affects males and females equally. Diagnosis of Wilson disease may be difficult, requiring blood and urine tests, and may include a liver biopsy. Copper chelation with penicillamine or trientine, oral zinc and a low copper diet are recommended therapies. We report the case of a 32-year old gentleman who presented with 6-month history of gradual onset, progressively worsening history of aphasia with loss of comprehension, inappropriate vocalizations, increased aggression and disturbed sleep. The patient had been exhibiting speech abnormalities, wherein his speech patterns and utterances became socially inappropriate and unrelated to the context, making it difficult for him to understand and communicate effectively. A differential diagnosis including auto-immune and infectious encephalitis, neurodegenerative disorders like Creutzfeldt-Jakob disease (CJD) and Wilson’s disease was made. MRI Scan Brain (with FLAIR) showed T2WI hyper-intense signals in bilateral basal ganglia, brain atrophy, hyper-intense signals in periventricular, cortical and sub-cortical regions. CSF analysis showed TLC 74 cells/uL with 90% lymphocytes, RBC 0 cells/uL, Protein 62 mg/dl and Glucose 69 mg/dl with no organisms on Giemsa stain and AFB stain microscopy. GeneXpert-PCR for MTB was also negative. His blood, urinary and spinal fluid cultures did not grow any organism growth. Serum cerulopasmin level was normal at 23 mg/dl. CSF autoimmune profile was negative. However, his 24-hour urinary copper was raised at 1201.8 ug (normal value 20-40 ug). He was diagnosed as having Wilson’s disease and started on pencillamine and zinc sulfate.


Hedera P. Wilson's disease: A master of disguise.

Parkinsonism Relat Disord. 2019;59:140-145. doi:


Nagral A, Sarma MS, Matthai J, Kukkle PL, Devarbhavi

H, Sinha S, et al. Wilson's Disease: Clinical Practice

Guidelines of the Indian National Association for Study

of the Liver, the Indian Society of Pediatric

Gastroenterology, Hepatology and Nutrition, and the

Movement Disorders Society of India. J Clin Exp

Hepatol. 2019;9(1):74-98. doi: 10.1016/j.jceh.2018.08.

Pfeiffenberger J, Lohse CM, Gotthardt D, Rupp C,

Weiler M, Teufel U, et al. Long-term evaluation of

urinary copper excretion and non-caeruloplasmin

associated copper in Wilson disease patients under

medical treatment. J Inherit Metab Dis. 2019;42(2):371-

doi: 10.1002/jimd.12046.

Chaudhry HS, Anilkumar AC. Wilson Disease. [Updated

Jan 21]. Treasure Island (FL): StatPearls

Publishing; 2023 Jan-. Available from: https://www.ncbi.


Kipker N, Alessi K, Bojkovic M, Padda I, Parmar MS.

Neurological-Type Wilson Disease: Epidemiology,

Clinical Manifestations, Diagnosis, and Management.

Cureus. 2023;15(4):e38170. doi: 10.7759/cureus.38170.

Li X, Feng Z, Tang W, Yu X, Qian Y, Liu B, et al. Sex

Differences in Clinical Characteristics and Brain MRI

Change in Patients With Wilson's Disease in a Chinese

Population. Front Physiol. 2018;9:1429. doi: 10.3389/


Yu XE, Gao S, Yang RM, Han YZ. MR Imaging of the

Brain in Neurologic Wilson Disease. AJNR Am J

Neuroradiol. 2019;40(1):178-183. doi: 10.3174/ajnr.A

Koziæ DB, Petroviæ I, Svetel M, Pekmezoviæ T, Ragaji

A, Kostiæ VS. Reversible lesions in the brain

parenchyma in Wilson's disease confirmed by magnetic

resonance imaging: earlier administration of chelating

therapy can reduce the damage to the brain. Neural

Regen Res. 2014 ;9(21):1912-6. doi: 10.4103/1673-


Litwin T, Gromadzka G, Cz³onkowska A, Go³êbiowski

M, Poniatowska R. The effect of gender on brain MRI

pathology in Wilson's disease. Metab Brain Dis. 2013;

(1):69-75. doi: 10.1007/s11011-013-9378-2.

How to Cite
Ghoauri, M. S. A., Abbas, F., Butt, N. I., Rasheed, M. B., Awais, M. M., & Sadaf, S. (2023). DIFFICULTIES IN DIAGNOSIS OF NEUROLOGICAL MANIFESTATIONS OF WILSON DISEASE. Annals of Jinnah Sindh Medical University, 9(2), 61-63. Retrieved from https://www.ajsmu.com/index.php/AJSMU/article/view/279