Neurological and neuropsychiatric spectrum of wilson's disease in local population

ABSTRACT

This prospective observational study was conducted in the department of Neurology, King Edward Medical University/ Mayo Hospital, Lahore over a period of six months from July to December 2007. The objective was to study the clinical and laboratory features of Wilson Disease in local population and compare the results with national and International data. All consecutive patients who presented with Wilson's disease during this period were included in the study. Their clinical and laboratory features were recorded and compared with the available National and International data. We collected a total of 10 patients from 5 different families. Eight were confirmed cases examined and investigated by the authors. Two cases were probable and dead siblings of these families in whom clinical features strongly supported the diagnosis of Wilson's disease. Clinical and laboratory data of only confirmed cases was tabulated and compared. Of the eight patients six were males and two females with a male to female ratio of 31. Mean age at presentation was 12.6 years with a range of 6 to 19 years. Presenting features were as follows dysarthria in 6 [75%]; dystonia 5 [63%]; extrapyramidal rigidity and bradykinesia 4 [50%]; emotional lability 6 [75%]; cognitive decline 2 [25%] and signs of chronic liver disease in 1 [13%]. Hepatic functions were abnormal in 1 [13%] while 4 [50%] patients had coarse echo texture of liver on abdominal ultrasound. Serum copper levels were within normal range in 8 [100%] patients. Serum ceruloplasmin was low in 8 [100%] patients. Twenty four hour urinary copper excretion was elevated in 5 [63%], KF ring on slit lamp examination was positive in 8 [100%] patients. CT scan of brain was done in 6 [75%] and showed hypodensity of basal ganglia mainly affecting the putamen and globus pallidus along with subcortical white matter disease in frontoparietal region in 4 [50%] patients. MRI was done in 5 [63%] patients and showed evidence of cortical atrophy with hyperintense signals in thalamif brain stem and basal ganglia in all five patients [100%]. Six confirmed cases belonged to three families and no family history was available in two cases [25%]. History of consanguineous marriage was positive in all [100%] cases. We conclude that Wilson's disease is not an uncommon problem in our population with patients presenting at an early age but with advanced stage of the disease. However, poor recognition is the possible cause of it's under and delayed diagnosis. Wilson's disease in children and young adults can present with neuropsychiatric features alone without any hepatic manifestations. Neuropsychiatric features along with KF ring and a low Serum Ceruloplasmin level are sufficient to establish a diagnosis of Wilson's disease