Kayser ? Fleischer Rings in Wilson?s Disease

Abstract

Purpose: The Kayser Fleischer ring is the hallmark of Wilson’s disease. We present a case of Wilson’s disease with neurological manifestations and Kayser-Fleischer ring without chronic hepatic involvement.
Material and Methods: A male patient, 31 years of age, presented with two weeks history of difficulty in speaking and tremors of hands. He was married and had two healthy daughters. His parents were alive and healthy. He was conscious, well oriented and had stable vital signs. Neurological examination revealed mask like facies with a vacuous smile, dysarthria and bradykinesia. Kayser – Fleisher rings were seen on slit lamp examination. There was no clinical evidence of chronic liver disease.
The laboratory investigations showed haemoglobin 13.9 g/dl, platelet count 161x109/l, WBC 6.5x109/l, serum ALT 17 U/l ( 9-43 U/l), serum alkaline phosphatase 332 U/l (80-306 U/l), total bilirubin 23 umol/l (<19 umol/l), urea 4.4 mmol/l (3.2-6.7 mmol/l) and creatinine 105 umol/l (53-120 umol/l). Serum ceruloplasmin was 10 mg/dl (19-57 mg/dl). MRI brain showed hyperintense signals in caudate nuclei, lentiform nuclei, thalami and brainstem on T2W images and FLAIR.
Result: A diagnosis of Wilson’s disease was made and Penicillamine (Vistamine) with oral Zinc was started. Follow up after 3 months showed improvement in clinical features and laboratory results. Follow up planned at 6 months and 12 months after treatment.
Conclusion: A high index of suspicion is required for early detection of Wilson’s disease in adolescents and young adults with neurological disorders. Initiation of treatment at an early stage can prevent complications.