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Rapid and slow, twist and turn wing beating: Think of Wilson's disease

Article  in  International journal of Nutrition Pharmacology Neurological Diseases · March 2023

DOI: 10.4103/ijnpnd.ijnpnd_94_22

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 Case Report

Rapid and slow, twist and turn wing beating: Think of

Wilson’s disease
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Ojas Mahajan1, Anamika Giri1, Chrisann Saldhana2, Sunil Kumar3

1
Post Graduate Resident, Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research (Deemed to be
University), Wardha, Maharashtra, India, 2Post Graduate Resident, Department of Opthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of
Higher Education and Research (Deemed to be University), Wardha, Maharashtra, India, 3Professor, Department of Medicine, Jawaharlal Nehru Medical College,
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Datta Meghe Institute of Higher Education and Research (Deemed to be University), Wardha, Maharashtra, India

Abstract
An uncommon autosomal disease, Wilson’s disease wherein excess copper gets accumulated in numerous human tissues, especially the brain,
liver, and cornea of the eyes. Wilson’s disease, usually believed to affect adolescents and young adults around the age of 40. There are multiple
diverse clinical manifestations of Wilson’s disease, but hepatic involvement and neuropsychiatric symptoms are the most prominent. The
disease is degenerative, and if ignored, it can lead to liver impairment, complications with the central nervous system, and even death. Life-
threatening complications and major long-term impairment may be minimized with early diagnosis and treatment.

Keywords: abnormal movement, copper, Kayser-Fleischer ring, tremor, Wilson, ’s disease

INTRODUCTION
Wilson’s disease (WD) is an autosomal-recessive disorder of
copper metabolism that affects individuals of all ages and is
driven on by mutations in the ATP7B gene in hepatocytes.[1]
Regardless of how the neurologic symptoms present
themselves, any sign of liver impairment, a suspicion of
the Kayser–Fleischer ring (which is present in more than
90% of neurologic cases), and a positive family history
should raise the probability of WD immediately. The
etiology of the disease’s manifestations is considered to be
excessive copper deposition in the body’s organs as a result of
poor copper elimination, which results in organ-specific
abnormalities such movement disorders, personality
disorders, and liver dysfunction.[2] Excessive copper
deposition affects brain tissue as it can lead to
inflammation and cellular damage through a variety of
mechanisms including DNA cross-linking, mitochondrial
toxicity, oxidative stress, cell membrane damage, and
enzyme inhibition.[3] The diagnosis is supported by
biochemical indicators such elevated 24-hour urinary
copper levels and decreased serum ceruloplasmin and
serum copper.[4] This case report emphasizes on a young
male patient with WD who had involuntary movements in his
right upper and lower limbs, slurred speech, and decreased
vision in both eyes, each of which may be very unpleasant for
the patient.
CASE REPORT
A 28 years old male came to the Medicine department of
Acharya Vinoba Bhave Rural Hospital at Wardha district of
central India with complaints of tremors of right upper limbs
and lower limbs since 8 months, diminition of vision in both
eyes since 6 months, and slurring of speech since 4 months.
His past and family histories were nonremarkable. No past
episodes of headache, seizure, or loss of consciousness
documented. No history of nasal or oral regurgitation,
drooling of saliva, or deviation of angle of mouth. There
Address for correspondence: Sunil Kumar, Professor, Department of
Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher
Education and Research (Deemed to be University), Wardha, Maharashtra,
India.
E-mail: sunilkumarmed@gmail.com
Received: 23 December 2022 Revised: 31 January 2023
Accepted: 6 February 2023 Published: 16 March 2023

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DOI: How to cite this article: Mahajan O, Giri A, Saldhana C, Kumar S. Rapid
10.4103/ijnpnd.ijnpnd_94_22 and slow, twist and turn wing beating: Think of Wilson’s disease. Int J
Nutr Pharmacol Neurol Dis 2023;13:77-9.

© 2023 International Journal of Nutrition, Pharmacology, Neurological Diseases | Published by Wolters Kluwer - Medknow 77
 Mahajan et al.: Rapid and slow, twist and turn wing beating
was no past evidence of sensory involvement. No recent drug
use, fever, joint pain, or rashes were mentioned. During
general examination, the patient’s blood pressure was 100/
70 mm Hg and pulse was 98/min. Nervous system
examination revealed dysarthria, resting and postural
tremors in the right upper limbs and lower limbs, and
Kayser–Fleischer (KF) rings in both eyes. The postural
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tremors of right upper limb were rhythmic, oscillatory,
wing beating like high amplitude movements, and were
more proximal. The right upper and lower limb tremors
were associated with severe bradykinesia and axial
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rigidity. There was no evidence of jaundice or cirrhosis to
indicate hepatic involvement. Slit-lamp examination revealed
KF rings in both eyes [Figure 1. 0]. His laboratory
investigations revealed the following: serum copper 60
(normal: 85–150) mg/dL, serum ceruloplasmin 7.2
(normal: 15–60) mg/dL, and 24-hour urinary copper 120
(normal: 50–70) mg/day. Other routine investigations were
all within the normal range. On T2-weighted MRI images,
there was a hyperintense region in bilateral thalami,
brainstem, and middle cerebellar peduncles without the
restriction of diffusion. The patient was started on tablet
penicillamine in a dose of 250 mg daily as a first step of
chelation therapy in combination with zinc, there was a
gradual improvement in neurological symptoms. On
follow-up visit of the patient, he was doing well till 3 months.
DISCUSSION
Wilson’s disease is a rare genetic disorder that can be treated
if it is recognized early, before more serious damage, mainly
to the liver and brain, has occurred.[1] If WD is suspected, the
first step includes having a look at copper metabolism
parameters (concentration of serum ceruloplasmin and
excretion of copper through urine), a slit-lamp eye exam
with a focus on the KF ring, and mandatory family screening
Figure 1: Slit-lamp examination revealing KF rings.
78 International Journal of Nutrition, Pharmacology, Neurological Diseases ¦ Volume 13 ¦ Issue 1 ¦ January-March 2023
in the patient’s first-degree relatives.[1,2] The serum
ceruloplasmin should not be used as a reliable
investigation to make a diagnosis of WD, because it is
normal in 10% of patients and even reduced in 20% of
carriers.[3] There are 30 cases of WD per million people.
Although it may begin as early as 6 years, the average age of
symptom manifestation in those who present with
neurological dysfunction is 18.9 years.[4] The most
common neurological symptoms of WD are dysarthria,
tremor (beginning in the upper extremities and generally
more prominent on one side), dystonia,
dysdiadochokinesis, micrographia, rigidity, impaired
posture and gait, hypomimia, the recognizable open-mouth
facial expression, bradykinesia, uncontrollable crying fits,
swallowing disorders, salivation, and other symptoms of a
damaged vegetative nervous system.[5] Muscle cramps,
undulating tongue movements, oculogyric crises, optic
neuropathy, and cough caused by unconscious breathing
muscle contractions are a few of the atypical neurological
symptoms of WD.[2] Tremor, which can be resting, postural,
or kinetic and primarily affects the proximal upper extremity,
is the most common early neurological symptom of WD.[4]
Wilson’s disease rarely manifests as neurological
involvement; approximately three to four incidences have
been documented in the past. The KF ring is a significant
ophthalmologic hallmark of WD. The Descemet’s membrane
in the cornea, wherein copper is deposited, can be observed as
a greenish-brown opacity around each iris.[4] Damage to the
basal ganglia, the cerebellar nuclei and associated tracts, and
probably even cortico-bulbar tracts, which manifests as
pseudobulbar features, causes dysarthria.[1]
In this case, patient presented with “wing beating” tremors
and dysarthria that instigate into assessment for WD. The
presence of a KF ring, an elevated excretion of copper from
the urine, and a low serum ceruloplasmin concentration all
helped to confirm the diagnosis of WD.[2,3] The fact drawn
here is WD needs to be scrutinized in a patient having “wing
beating” tremors and dysarthria even with absence of signs of
hepatocellular failure besides accentuating the rare feature of
WD.[4]
CONCLUSION
In conclusion, this case highlights dysarthria and }wing
beating} tremors, two atypical clinical manifestations of
WD. It is essential to be aware of these neurological WD
symptoms and recognition in this potentially treatable
condition can be very beneficial.
Acknowledgements
We thank my patient who has agreed to share his clinical
presentation as well as images and to be a part of this case
report.
Financial support and sponsorship
Nil
 Mahajan et al.: Rapid and slow, twist and turn wing beating

Conflict of interest coexisting in a case of Wilson’s disease cirrhosis: “Double trouble”.

Indian J Respir Care 2022;11:176.
All the authors of the present study declare no conflicts of 3. Kumar MK, Kumar V, Singh PK. Wilson’s disease with neurological
interest. presentation, without hepatic involvement in two siblings. J Clin Diagn
Res 2013;7:1476-8.
4. Sagar VVSS, Shukla S, Acharya S, Kumar S, Akhil CVS. Wilson’s
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cranial nerve involvement- gold is not glittering. Int J Res Rev 2020;7:412-4. 5. Žigrai M, Vyskocil M, Tóthová A, Vereš P, Bluska P, Valkovic P. Late-
2. Sagar VV, Acharya S, Agrawal G, Shukla S, Kumar S, Akhil CV. onset Wilson’s disease. Front Med 2020;7:26.
Hepatopulmonary syndrome and portopulmonary hypertension
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International Journal of Nutrition, Pharmacology, Neurological Diseases ¦ Volume 13 ¦ Issue 1 ¦ January-March 2023 79

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