Objective: Apparent clinical picture of Wilson’s disease with normal blood ceruloplasmin levels in young patients with Wilson’s disease.

Background: Wilson’s disease is a hereditary disease in which chronic intoxication of the body with copper occurs as a result of violations of its transport and accumulation. One of the standard diagnostics methods for the disease is the measure of the concentration of ceruloplasmin in the serum; this parameter rises at Wilson’s disease.

Method: Clinical case of a patient with Wilson disease with normal ceruloplasmin rates and evident clinical symptoms.

Results: A young man, 28 years old, the debut of the disease at the age of 16 with severe emotional personality disorders, which was errantly diagnosed as signs of mental illness, however, the patient refused treatment in a specialized institution and continued treatment with exorcism. The patient was transferred to a clinic from a prison where he was placed for his attempt to enter the government house due to mental disorders. At the time of examination, his clinical picture was presented by polymorphic neurological syndromes: bilateral tremor of limbs in rest and movement, hand tremor had the form of “beating wings” (“fluttering of bird’s wings”), unstable tremor of the tongue, speech disorders in the form of dysarthria and expressed in the form of depression, anxiety, mood swings, impulsiveness, irritability, aggression, while the MMSE test was -28 points.Reduction of the concentration of bound copper in the blood up to 3.37, while the normal range is 11.99 to 28 μmol / l, which indicated the excessive deposition of copper in the tissues of the body, with a low content in the blood, but the serum Ceruloplasmin was 400 mg / l (reference values- 200-600 mg / l)Echosigns of splenomegaly, hepatitis at ultrasound examination. Appearance of brown-greenish pigment on the periphery of the cornea – “Kaiser-Fleischer ring” by objective ophthalmic examination results.MRI of the brain revealed morphological changes in the form of encephalopathy with a symmetrical lesion of thalamus, peri-ductal gray matter, upper cerebellar peduncles and rostral caudalis.

Conclusion: A variety of psychotic disorders and negative laboratory results (in particular, measuring of ceruloplasmin) can disguise Wilson disease at the early stages of the disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/wislon-disease-clinical-specificities-of-the-disease-course-under-normal-ceruloplasmin-in-the-blood-a-clinical-case-from-kyrgyzstan/