1Department of Neurology, Alfred Health, Melbourne, Australia
2Department of Neurosciences, Monash University, Melbourne, Australia
3Department of Neurology, University Technology Mara, Selangor, Malaysia
Corresponding author: Chun Seng Phua, PhD Department of Neurosciences, Monash University, Wellington Rd, Clayton, Victoria 3800, Australia / Tel: +61-3-9905-4000 / E-mail: chun.phua1@monash.edu
• Received: October 26, 2023 • Revised: November 29, 2023 • Accepted: December 8, 2023
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Coughing is an uncommon symptom in the field of neurology. Coughing is a reflex mediated by respiratory control centers in the brainstem and cerebral cortex. Therefore, disorders affecting the brainstem, such as space-occupying lesions and Chiari malformations, can result in coughing [1]. In movement disorders, cough can present as a type of tic or respiratory dyskinesia. Herein, we report the case of a patient with Wilson’s disease who presented with cough.
A 35-year-old male patient presented with a 6-month history of dry cough. Prior to coughing, he had an insidious onset of left-hand tremor for 12 months. Coughing occurred 3–4 times every hour but not during sleep. Each cough episode lasted 10 seconds to 2 minutes. There was no urge to cough, and he was unable to suppress the cough. He was a nonsmoker. His collateral history also revealed physical aggression and hypersexuality.
An examination showed a left-hand tremor present at rest and during action. At rest, the tremor appeared to primarily involve the digits. However, with posture and movement, the tremor was exacerbated and extended proximally to affect the wrist in a flexion-extension manner with increased amplitude. There was no bradykinesia or rigidity. His gait showed a small stride length with a wide base and reduced bilateral arm swing (Supplementary Video 1 in the online-only Data Supplement). A neurocognitive assessment revealed a Mini-Mental State Examination score of 23/30.
Extensive respiratory investigations by a respiratory physician, including high-resolution chest CT, lung function tests, and infectious disease screening, failed to elucidate the cause of cough, and antibiotics and cough suppressants did not provide any relief. With the patient’s young age coupled with tremor, gait abnormalities and neurocognitive features, Wilson’s disease was considered. Investigation results showed serum ceruloplasmin 0.06 g/L (0.15–0.3 g/L), serum free copper 62 µg/L (10–15 µg/L), deranged liver function test with gamma GT 66 U/L (5–40 U/L), ALP 217 U/L (40–147 U/L), and thrombocytopenia 137×109/L (150–190×109/L). His 24-hour urine copper concentration was elevated (160 µg/24 hours [150–190 µg/24 hours]). The Global Assessment Scale scores for Wilsons disease were 8 (tier 1) and 16 (tier 2). MRI revealed the baby panda sign in the pons, suggesting Wilsons disease (Figure 1). Treatment was initiated with d-penicillamine starting at 125 mg BD and then gradually uptitrated. This resulted in a reduction in cough.
Cough can be a rare manifestation of Wilson’s disease, but it is not typically the initial manifestation [2]. Other typical symptoms may be present prior to the cough, such as tremors or other movement disorders. Bulbar symptoms such as dysarthria, drooling, and dysphagia can be observed in Wilson’s disease and could be associated with coughing. However, our patient did not experience bulbar symptoms, and the cough was persistent and occurred multiple times an hour. The underlying pathophysiology could involve the pontine respiratory group, which mediates the cough reflex. In terms of phenomenology, cough could be a type of motor tic, although there was no urge to cough and no suppressibility. Respiratory dyskinesia can also present as a cough. However, respiratory dyskinesia may be shallow, fast, or irregular and is at times associated with repetitive sighing or grunting, which could be mistaken for cough [2]. Diaphragmatic myoclonus should also be considered, although this may vary with inspiration and expiration and usually does not manifest as cough [3].
The neurological disorders that may present with cough include cerebellar ataxia, neuropathy, and vestibular ataxia syndrome (CANVAS) (60% prevalence) [4]; autosomal dominant cerebellar ataxias [5]; Tourette syndrome; and Chiari malformations [1].
Cough can be a rare symptom of neurological disorders since the cough reflex is mediated by the brainstem. In a young patient with an unexplained cough accompanied by a movement disorder, a diagnosis of Wilson’s disease should be considered.
Part 1: An involuntary dry cough lasting 11 seconds. Part 2: Gait examination showed wide gait with reduced bilateral arm swing. A dry cough was also heard during walking. Part 3: Left arm tremor at rest and during action.
Notes
Ethics Statement
Informed written consent was obtained from patient for purpose of this publication. We confirm that we have read the journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.
Conflicts of Interest
The authors have no financial conflicts of interest.
Funding Statement
None
Author contributions
Conceptualization: Chun Seng Phua. Supervision: Shalini Bhaskar, Kelly Bertram. Writing—original draft: Chun Seng Phua. Writing—review & editing: Shalini Bhaskar, Kelly Bertram.
Figure 1.
Axial T2 image demonstrating the “face of the miniature panda” in the pontine tegmentum (red arrow).
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