|Year : 1989 | Volume
| Issue : 4 | Page : 200-201
Atypical Wilson disease-A case report with CT scan
Madhumati Misra, Amar Bikram Mohanty, Sanathan Rath
Neuro Ophthalmology Section, SCB Medical College. Cuttack 753 007, India
Neuro Ophthalmology Section, SCB Medical College. Cuttack 753 007
Source of Support: None, Conflict of Interest: None
A case of atypical Wilson disease is being reported. Possible mechanism of the process, diagnostic features and CT appearance of brain is described. Early detection and therapy with copper chelating agents result in neurologic and performance improvement of patients.
|How to cite this article:|
Misra M, Mohanty AB, Rath S. Atypical Wilson disease-A case report with CT scan. Indian J Ophthalmol 1989;37:200-1
| Introduction|| |
Westphal in 1883 and Gowers in 1888 first suspected the inter-relationship of coooer metabolism and Wilson disease. , Corneal Kayser Fleisher(KF) rings were pathognomic of Wilson disease and the result of storage of brown copper containing granules in descemets membrane near corneal limbus. Wilson (1912) first described the clinical findings of rigidity, tremor,drooling and impairment of liver function. Cumings (1948) first conclusively demonstrated the inter-relationship of copper metabolism and Wilson disease. , The variability of clinical picture of hepatic failure or bizzare neurological signs often delays diagnosis in children. Detection of KF rings in cornea sometimes gives. a clue to the diagnosis (Misra et al 1988).  We report a case of atypical wilson disease with review of literature.
| Case report|| |
SP. a male child aged 10 years experienced slowly progressive dystonic movement of all limbs, abnormal limb posture, difficulty in speech and walking every, last six months. He was the third child of a non consanguineous marriage and her family history was noncontributory.
Neurological examination revealed slow mentation, slurred speech, ataxic gait and bilateral dyskinesia. His liver was 3 finger enlarged, firm and nontender. There was no other visceromegaly. Ophthalmic examination revealed involuntary eye movements with full pupillary reaction, normal visual acuity and field with normal optic fundii. Slit lamp examination showed K.F. rings on either eye close to the corneal limbus.
Detection of KF ring led to the suspicion of abnormal copper metabolism (? wilson disease) and extensive investigation was done. Serum copper level was 42gm/ 100ml (N. 75-160gm/100ml), serum copper oxidase level was 0.08 optical density (N. 0.2-0.55 optical density), urinary copper excretion in 24 hours was 116.8 gm (N. less than 70 gm/24 hours) and serum ceruloplasmin level was 0.0510 optical density (N-0.2 to 0.55 OD). Serum calcium level was 10.2 mg%, phosphorus 5.5 mg %, alkaline phosphates 18.76 units, SGOT/SGPT were 61/25 units per ml. Computed tomographic scan (CT scan) of head showed diffuse cerebral atrophy. [Figure - 1]
On basis of the findings of low serum copper/copper oxidase level and high urinary copper excretion, diagnosis of Wilson disease was established. Therapy with Dimencapmol 1000 mg/day orally for 2 months resulted in neurological and performance improvement. Corneal KF rings however remained unchanged.
| Discussion|| |
There are three different types of Wilson disease based upon the genetic variability. The juvenile type appear before 16-years of age and is predominantly a liver disease before 5 years. The salvic type appear after 16 years of age and is predominantly a neurological disease. The serum ceruloplasmin remain normal to these two types of the disease (Swaiman et al. 1982). The third type, classified as atypical Wilson disease is characterised by low serum ceruloplasmin level and clinical picture similar to those of juvenile type (Misra et al 1988, Cox et al 1972). The patient reported has atypical form of the disease with low ceruloplasmin level.
Early in the first decade, the initial symptoms of Wilson disease are those of severe, acute or subacute hepatic failure without specific neurological symptoms. Between ages 5 and 10, children manifest dystonia as the most prominent clinical finding (Denny Brown 1964). The children eventually worsen with mild intention tremor (Misra et al 1988), dysarthria, KF ring and slowly progressive dementia characterised by unusual behaviours, tempor outbursts and decreased intellectual abilities.
Corneal KF rings may be seen with naked eye or slit lamp and are pathognomonic of Wilson disease. The rings are the result of storage of brown granules containing copper in the descemets membrane near corneal limbus (Misra et al. 1988).
Brainstem auditory potential wave latencies are increased (Fuitija et al 1981) and CT scan may reveal lucent areas in the basal region.
The basic biochemical abnormality in Wilson disease is the large deposit and accumulation of copper in the liver and tissues with accompanying cupri uria. Non-ceruloplasmin bound copper concentration is increased in plasma, ceruloplasmin level is usually low but is often normal. There may be uric aciduria and amine aciduria as copper probably interferes with renal tubular function.
In the period before modern treatment with D-penicillamine, patients usually died within 5 years from severe hepatic and neurological impairment and only few managed to survive longer with mild neurologic impairment. (Goldstien et al 1974).
| Treatment|| |
Dimercaprol was first introduced by Cumings in 1948. Dpenicillamine is effective because it chelates with copper and lead to increase copper excretion in urine. Brain and hepatic dysfunction appear to be partly reversible and KF rings also tend to fade. The total dose of D-penicilliamine ranges from 500 to 2000 mg/day with an average 1000 mg/ day for 2 months at each session. Copper intake is kept low, 1.0 to 1.5 mg/24 hours (Strickland et al 1971). Potassium disulphide can be used (30 to 50 mg/day) to reduce copper absorption from gut. Therapy with levo dopa in addition to copper chelating agents has resulted in performance improvement in few patients with Wilson disease (Gelmers et al 1973).
| References|| |
Westphal C - uber eine dem Bilde der cerebrospinal en grauen Degeneration ahnliche Erk rankung des central en Nerven systems ohne anatomischen Befund, nebst einigen Bemerkun gen uber para doze contraction. Arch. psychiatre. 1883. 14.87.
Gowers WR-A manual of disease of the nervous system. Vol. 2 T and A Churchill. London. 1888. P 656
Wilson SAK - Progressive lenticular degeneration, a familial nervous system disease associated with Cairosis of the liver. Brain - 1912. 34.295.
Cumings JN- The copper and iron content of the brain and liver in normal and in hepato lenticular degeneration. Brain. 1948. 71. 410.
Misra M. Rath S- Hepato lenticular degeneration. Orissa Medical Journal, 1988 (In press).
Swaiman KF, Menkes JH , Devivo Dc, Prensky AL -" Metabolic disorders of the central nervous system" . In the practice of paediatric neurology. 2nd Ed. Vol. I Ed. Swaiman KF and Wright F.S. The C.V. Mosby Co. London. 1982. P. 575.
Cox OW. Fraser FC, Sass-Kortasak A-A genetic study of wilson's diesease : evidence for heterogeneity. Am. J. Hum. Genet. 1972. 24. 646.
Denny - Brown D - Hepato lenticular degeneration (Wilson's disease). N. Engl. Jr. med. 1964. 270. 1149.
Fujita M., Hosoki M and Miyazaki M - Brain- stem auditory evoked responses in spinocerebellar degeneration and Wilson's disease, Anna. Neurol, 9, 42, 1981..
Goldstein N.P. and Owen C.A., Symposium on copper metabolism and wilsons's disease, Mayo clinic proceedings, 49,363, 1974.
Strickland G.T. Bacckwell R.A. and Walten R.H. Metabolic studies in Wilson's disease, Amer. J. Med. 51, 31, 1971. Gelmers J.H., Troost j., Willemse J. Wilson's disease, modification by L.Dopa, Neuropaediatric, 4, 453, 1973.
[Figure - 1]