A rare case report of wilson's disease affecting a 23-year-old girl

Ravindra Kadu; Vidya K Lohe

doi:10.4103/jdmimsu.jdmimsu_196_20

CASE REPORT

Year : 2020 | Volume : 15 | Issue : 3 | Page : 500-502

A rare case report of wilson's disease affecting a 23-year-old girl

Ravindra Kadu¹, Vidya K Lohe²
¹ Department of Pathology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India
² Department of Oral Medicine & Radiology, Sharad Pawar Dental College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India

Date of Submission	19-May-2020
Date of Decision	25-Jun-2020
Date of Acceptance	10-Jul-2020
Date of Web Publication	1-Feb-2021

Correspondence Address:
Dr. Ravindra Kadu
Department of General Pathology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Deemed to be University, Sawangi (Meghe), Wardha, Maharashtra
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/jdmimsu.jdmimsu_196_20

Abstract

The present article describes a case of Wilson's disease in a 23-year-old girl. In Wilson's disease, there is an excessive absorption of copper from the small intestine and decreased excretion of copper by the liver, resulting in increased tissue deposition, especially in the liver, brain, cornea, and kidney. The patient in our case presented with poor esthetics due to proclinated upper anterior teeth. Careful history and clinical examination led to the appropriate phase of the disease. The acquaintance of the clinical presentations and management of Wilson's disease led to the safe delivery of medical and dental care.

Keywords: Copper intoxication, Kayser–Fleischer ring, Wilson's disease

How to cite this article:
Kadu R, Lohe VK. A rare case report of wilson's disease affecting a 23-year-old girl. J Datta Meghe Inst Med Sci Univ 2020;15:500-2

How to cite this URL:
Kadu R, Lohe VK. A rare case report of wilson's disease affecting a 23-year-old girl. J Datta Meghe Inst Med Sci Univ [serial online] 2020 [cited 2021 Feb 28];15:500-2. Available from: http://www.journaldmims.com/text.asp?2020/15/3/500/308557

Introduction

Wilson's disease, also called “hepatolenticular degeneration,” was illustrated by Kinnier Wilson in 1912.^[1],[2] It is quite rare, with the prevalence being 30:1 million standard population.^[1] In Wilson's disease, there is disproportionate absorption of copper by the small intestine and excretion of copper by the liver is reduced, leading to increased deposition in the tissues. The increased deposition particularly occurs in the liver, brain, cornea, and kidney.^[3] The Kayser–Fleischer (K-F) ring is considered a classical ophthalmologic manifestation.^[1],[2],[3]

An essential and integral part of several enzyme systems is copper. It plays an important role in the metabolism of iron and synthesis of melanin and has a role in carrying out the function of central nervous system. Apart from these functions, copper carries out synthesis and cross-linking of elastic as well as collagen; it scavenges superoxide radicals.^[4] However, accumulation of copper in tissues in excessive amount will cause pathologic alterations in the liver, brain, and sometimes in kidney and other organs, giving rise to various signs and symptoms.^[1],[2],[3]

Case Report

A 23-year-old girl reported with the chief complains of poor esthetics due to proclinated upper anterior teeth to the dental department. History from her father revealed that she is a known case of Wilson's disease. She was then referred to the medicine outpatient department where complete past medical history was retrieved. Her father reported that the onset of the clinical symptoms was at the age of 7 in the form of jaundice followed by sudden abnormal voluntary movements, with dystonic and athetoid posturing of the arms, hands, and feet; involuntary movements such as writhing movements of the limbs and tremors also started simultaneously. There was slurring of speech, followed by a decline in intellectual level as well as deterioration in schoolwork. Therefore, she was taken to a physician, who referred her to a neurophysician wherein all the necessary investigations such as serum ceruloplasmin and urine copper excretion were carried out. Presence of K-F rings in her both eyes and the results of the investigations established the diagnosis of Wilson's disease. The neurophysician advised lifelong oral penicillamine; being a chelating agent, it removes excessive copper from the body. She was advised restriction of dietary copper as well. She was regularly taking capsule cilamine 250 mg orally, one capsule twice daily, and preparations of tetrabenazine (tablet Revocon) 25 mg orally half tablet twice daily. Her family history revealed that her brothers and sister were normal, but her paternal aunt's two daughters and one son were suffering from Wilson's disease. Her psychiatric assessment revealed that she was almost completely normal; she was well dressed and primarily conscious about her proclinated upper anterior teeth.

After taking complete history and performing clinical examination, she was again referred back to the dental hospital. She had a convex facial profile; her lips were incompetent and the mento-labial sulcus was deep. Intraoral examination revealed proclinated upper anterior teeth, anterior deep bite, and Angle's class I molar relationship on the left side; lower right and left first molars and lower left second molars were missing, which were uneventfully extracted due to extensive caries. There were carious upper right and left first molars and lower right second molars. A panoramic radiograph was advised which revealed normal edentulous ridge in the lower right and left first molars and lower left second molar region [Figure 1].

Figure 1: Panoramic radiograph showing normal edentulous ridge in the lower right and left first molars and lower left second molar region

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Discussion

In the present case, the diagnosis was at an early age and the patient was effectively treated for Wilson's disease. She was meticulously following the treatment and instructions given by the neurophysician; she was also consuming copper-free food. As per the findings of general clinical assessment, when she visited this hospital at the age of 23 years, there were no manifestations of active Wilson's disease, except for the presence of K-F rings in her eyes [Figure 2] and persistent slurred speech. There were no features such as jaundice, tremors, and dystonia with which she visited to the neurophysician at the age of 7 years.

Figure 2: Kayser–Fleischer ring in the eye

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Wilson's disease can be successfully managed if diagnosed early and correctly treated. She had no tremors and was able to perform adequate oral hygiene procedures; there were no signs and symptoms of reduced salivation or dryness related to anti-Parkinsonian drugs. The side effects of penicillamine are lupus-like reaction, myasthenia gravis, stomatitis, and loss of taste,^[1],[2],[3] but she showed no such features, therefore the penicillamine therapy was continued further.

The oral management of patients with Wilson's disease can be divided into patients with acute stage and that of those presenting with chronic stage of the disease.^[5] As total body copper is increased in Wilson's disease, it was advised to use no copper-containing materials in her future dental treatment. The carious upper right and left first molars and lower right second molars were restored using glass ionomer restorative material as it is a noncopper-containing material. There is impaired healing in these patients, therefore instead of using fixed orthodontic appliances, removable appliances have to be used. The fixed appliances being fast acting exert more pressure and may cause rapid resorption of the underlying bone. Use of nickel–titanium wires for orthodontic management should be prevented as even if in traces, the composition of these wires is copper.^{[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17]}

Conclusions

Wilson's disease is a sort of copper poisoning which causes an excessive collection of copper in tissues, ultimately causing the accumulation of copper in various organs, leading to various manifestations in the affected patient. The patient may visit at any age depending on the severity of the disease. It is, therefore, important to carefully explore the history and carry out meticulous clinical examination to reach appropriate clinical diagnosis. The acquaintance with the clinical features and knowledge of various treatment options of this rare condition are important for providing safe delivery of medical and dental care.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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