Objective: To report unusual presentation of throat clearing tics in a 15 year old Indian girl with Wilson’s disease (WD).

Background: WD is one of the genetically medicated and potentially treatable disorders due to defective copper metabolism. It presents with various movement disorders. However motor tics as presenting feature of WD is extremely rare.[1-3]

Method: Report of tics in WD.

Results: A 15 year old girl born of non- consanguineous parentage presented with complaints of repeated throat clearing episodes and feeling of foreign body sensation since 1.5 years. Initially these used happen once in a hour and over time had increased to an extent that, at the time of presentation, she had such episodes at every minute. There was minimal discomfort and she could suppress them partially. These movements were not present in sleep. There was no history or any toxin exposure and no history suggestive of such symptoms or any neurological illness in the family.
On examination, patient was conscious and alert. Her vital parameters were within normal limits. Cranial nerve examination showed Kayser-Fleischer(KF) ring around the cornea. (Figure 1) Extra ocular movements were full. Palatal movements were normal. Other cranial nerves were normal. She had recurrent stereotypic involuntary throat clearing episodes almost every minute and each time lasting for 5-10 seconds and associated with inward movements of lips which patient could suppress these movements temporarily. There was feeling of distress with voluntary suppression of these movements. In addition, there was a throat and mouth covering movement with left hand and dystonic posturing of right hand which was more evident while walking. Her gait was normal.
Investigations- hemogram, liver, kidney and thyroid function tests were normal. Serum ceruloplasmin was low (0.4mg/dl) and 24 hour urinary copper was elevated (>100microgram/24hours). Ultrasound abdomen was normal. Brain MRI showed T2/FLAIR hyper intensity in bilateral basal ganglia, thalamus and mid-brain without any diffusion restriction,(Figure 1) overall suggestive of WD.
She was started on chelation therapy with Tab. Penicillamine and also with elemental Zinc. For symptomatic benefit, she was also started on Tab. Tetrabenzine and Tab.Trihexyphenidyl.

Conclusion: Hereby we describe unusual presentation of WD with throat clearing tics and its recognition aids in the diagnosis and treatment of this potentially treatable disorder.

References: 1. Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis. 2004; 19: 229–239. DOI: 10.1023/B:MEBR.0000043973.10494.85
2. Garg B, Gupta SK. A Child of Wilson’s disease presenting with coprolalia. Ann Psychiatry Treatm.2017;2(1):001-002.
3. Datta AK, Mukherjee A, Chaudhuri J, Pandit A, Gangopadhyay G. Not the Stereotypical Wilson Disease: A Case Report. Tremor Other Hyperkinet Mov (N Y). 2021;11:44. Published 2021 Oct 29. doi:10.5334/tohm.658

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MDS Abstracts - https://www.mdsabstracts.org/abstract/throat-clearing-tics-in-wilsons-disease-an-unusual-manifestation/