DIFFICULTIES IN DIAGNOSIS OF NEUROLOGICAL MANIFESTATIONS OF WILSON DISEASE

  • 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.

Abstract

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.

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Published
2023-12-31
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 http://www.ajsmu.com/index.php/AJSMU/article/view/279