Category: Other
Objective: We report the case of a patient who experienced diagnostic wavering.
Background: Wilson disease is a rare disease. Cases in Africa is even rarer. We only notice 15 cases across the continent
Method: 33 years old man with no personal pathological history. Psychiatric disorders in his sister who died early at the age of 28. Onset with a focal dystonia of the right elbow secondary generalization associated with tremor of the upper limbs. We receive the patient after 12 years of symptoms evolution. The clinical exam notes a parkinsonism with predominance of hypertonia. The eyes exam notices a Keyser fletcher ring. Cerebral MRI (T2 and flair) shows hypersignal spots, symmetric and bilateral in the gray matter nucleus. Plasma ceruloplasmin and cupremia were normal whereas, cupruria was very high 713mg/L. The diagnosis of certain WD is made on the basis of family history, clinical and screening arguments. The patient has developed side effects of treatment but got good outcomes on hypertonia
Results: The WD onset was neuropsychiatric symptoms, that represents 33% of cases in France. The diagnosis delay of neurological forms is over one year and half.
The Keyser Fletcher ring is a great sign to evoke the diagnosis and is present in almost all neurological forms. The copper balance is essential for the diagnosis but not sufficient. A normal plasma ceruloplasmin doesn’t eliminate the diagnosis. REC is a good biomarker of the disease with a sensitivity close to 100% when is value is superior to 18.5%.
Brain MRI abnormalities always exist with neurologic clinical signs.
TETRATIOMOLYBDATE is a future therapy, better than D-PENICILLAMINE with less side effects.
Conclusion: WD is a rare and difficult diagnosis disease, particularly in low-income area. This leads to diagnostic wavering.
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To cite this abstract in AMA style:
A. Ouedraogo, V. Ouedraogo, A. Savadogo. Wilson’s Disease About A Complex Case [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/wilsons-disease-about-a-complex-case/. Accessed January 11, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/wilsons-disease-about-a-complex-case/