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• “Wilson’s disease: diagnostic errors and clinical implications”
  Kalyan B Bhattacharyya
  Published on: 31 January 2005

• Published on: 31 January 2005

  “Wilson’s disease: diagnostic errors and clinical implications”

  • Kalyan B Bhattacharyya, Associate Professor
  • Other Contributors:
    • Sagar Basu, Tapas K Banerji

  Dear Editor,

  We read with interest the article “Wilson’s disease: diagnostic errors and clinical implications”, written by Prasanth et al, in your journal, 2004;75:907-909. [1]

  We would like to thank the authors for bringing to light the difficulties in diagnosing Wilson’s disease (WD) and the protean manifestations that often masquerade as other diseases in India. We would like to share our expe...

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  Dear Editor,

  We read with interest the article “Wilson’s disease: diagnostic errors and clinical implications”, written by Prasanth et al, in your journal, 2004;75:907-909. [1]

  We would like to thank the authors for bringing to light the difficulties in diagnosing Wilson’s disease (WD) and the protean manifestations that often masquerade as other diseases in India. We would like to share our experience on two such cases that we encountered in recent times.

  A boy, aged about 10 years, presented with weakness of the proximal muscles of the lower limbs for some years and was found to have wasted muscles in the shoulder and hip girdles. The calf muscles were hypertrophied and Gowers’ sign was positive. He was diagnosed as a case of Duchenne Muscular Dystrophy (DMD) and was admitted for investigations. The next morning he was found to exhibit dystonic posturing of the right hand. Slit lamp examination revealed Kayser-Fleischer (KF) rings and the tests for copper profile were positive. The patient improved substantially after the initiation of penicillamine and zinc sulphate therapy. Later, when the problem was presented in a clinical meeting, a senior neurologist commented that one such case was also seen by him who was admitted with the same provisional diagnosis, where a later bout of hematemesis prompted him to look for the KF rings. Since then, the authors have formulated the dictum that in a suspected case of DMD, at least in India, one must look for the inauspicious rings immediately, lest a potentially treatable condition is missed.

  The second case in point, was a 32-year old man who presented with persistently open lower jaw for some months. He visited a dentist and was diagnosed as a case of ‘lock jaw’. Wiring of the jaws was performed, which was ineffective. When he was eventually referred to us, he was found anarthric and dysphagic with evidence of jaw opening dystonia. Slit-lamp examination revealed KF rings and the copper profile was grossly abnormal. MRI examination of the brain revealed symmetrical hyperintense signals in the basal ganglia in the T2-weighted image and the diagnosis of WD was established. He responded dramatically to d-penicillamine.

  These two cases once again underline the odd presentations of WD which should be kept in mind, particularly in India, where osseo-muscular presentation is not uncommon. Dastur et al, [2] described the high incidence of renal rickets without central nervous system involvement or elevation of the hepatic enzymes in their patients. They proposed that these features could be the result of the modification of one gene or even due to involvement of multiple alleles. Later, Manghani et al, [3] observed abnormally low values of serum copper oxidase and an inordinately high value of direct-reacting copper in serum in these patients. The authors felt that these biochemical aberrations were indicative of a milder nature of the disease, a fact that is supported by the observation that WD in India runs a comparatively benign course and the onset of the disease is somewhat late. Features like, amino aciduria, cysteineuria, calcuria and phosphaturia are common and Fanconi’s syndrome was considered concomitant in these patients by the authors. Similarly, renal rickets and osteomalatic myopathy with myopathic clinical presentation have been reported by Arjundas et al, from India as well. [4] It is also noteworthy that one case has been reported from this country, presenting with priapism. [5]

  Indeed, like in the United Kingdom, as suggested by Walshe, [6] WD in India have only one feature in common; they differ from each other in every conceivable aspect and a high index of suspicion is necessary to diagnose the condition.

  References

  (1). Prasanth LK, Taly AB, Sinha S, et al. Wilson’s disease: diagnostic errors and clinical implications. J Neurol Neurosurg Psychiatry 2004;3: 351-53.

  (2). Dastur DK, Manghani DK, Wadia NH. Wilson’s disease in India. I. Geographic, genetic, and clinical aspects in 16 families. Neurology 1968;18:21-31.

  (3). Manghani DK, Dastur DK. Wilson’s disease in India. Wilson's disease in India. II. Biochemical and pathogenetic considerations in patients, parents, and siblings. Neurology 1968;18:117-26.

  (4). Arjundas G. Wilson’s disease. A study of 21 cases. Proc Inst Neurology 197;7:46.

  (5). Nair KR, Pillai PG. Trunkal myoclonus with spontaneous priapism and seminal ejaculation in Wilson’s disease. J Neurol Neurosurg Psychiatry. 1990;53:174.

  (6). Walshe JM. Wilson’s disease: Yesterday, Today, Tomorrow. Mov Disord 1988;3:10-29.

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  Conflict of Interest:
  None declared.

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