Muhammad Sohail Ajmal Ghoauri, Fatima Abbas, Nauman Ismat Butt, Muhammad Bilal Rasheed, Malik Muhammad Awais, Samrina Sadaf.
Difficulties in diagnosis of Neurological Manifestations of Wilson Disease.
Ann Jinnah Sindh Med Uni Jun ;9(2):61-3.

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.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com