Wilson’s Disease: A Great Masquerader

Abstract

Background: Wilson’s disease (WD) is a treatable autosomal recessive metabolic disorder which could lead to protean hepatic or neurologic manifestations. WD could mimic many neurologic disorders and is often diagnosed with a long delay. This study describes central nervous system manifestations of a group of Iranian patients with neurologic WD. Methods: Data from case records of patients with neurologic WD presenting at a referral university hospital and a private clinic in Tehran from 1984 to 2004 were analyzed. Results: Fifty patients from 44 unrelated families with WD were identified, whose mean duration of follow-up was 51.8 (±58.5) months. The median age of onset of neurologic symptoms in 37 patients with primary neurologic or simultaneous hepatic-neurologic presentation was 16 (10–38) years, whereas in 13 patients with prior hepatic damage, this was 18.5 (11–34) years. The 6 most common manifestations were dysarthria (80%), drooling (48%), tremor in limbs (44%), abnormal gait (44%), psychiatric and/or sleep symptoms (44%), and dystonia in limbs (42%). Conclusion: Neurologic WD has heterogeneous manifestations and should be considered in young patients presenting with dysarthria, drooling, any kind of movement disorders or psychiatric symptoms.

Hepatocellular carcinoma in a young man with resting and postural tremors

“…However, when the patient was asked to write, the amplitude of the oscillations increased dramatically, pointing to two distinct tremor types. The postural tremor closely resembled benign essential tremor, except its asymmetrical nature and sparing of voice quality, consistent with other descriptions of the postural tremor of WD 4 6…”

“…Common symptoms include: dysarthria, dystonia, tremor, parkinsonian symptoms and rarely, cerebellar symptoms 4. Of these, dysarthria is frequently reported as the most common neurological symptom 4 6 7. Dysarthria can be of virtually any type; in this case, the combination of speech abnormalities resembled a parkinsonian phenotype.…”

Update on the clinical management of Wilson's disease

“…Delayed recognition of the disease can lead to a progressive worsening of hepatic and neurologic symptoms, and this may influence the overall prognosis for improvement 27,28. Treatment outcomes are best if the interval between first symptoms and initiation of therapy is <1 month 18.…”

Wilson's disease with and without rapid eye movement sleep behavior disorder compared to healthy matched controls

“…Data on sleep in WD are scarce. Poor objective and subjective sleep quality has been found [4][5][6][7][8], including indications of altered REM sleep characteristics [5,7,9], and altered dreaming [4,7]. In a group of 55 patients with WD, values in a clinical REM sleep behavior disorder (RBD) screening score [10] were significantly higher than in healthy controls and suggestive of RBD in almost half of the patients with WD [7].…”