Recurrent limb weakness as initial presentation of Wilson's disease.
A 28-year-old normotensive euthyroid man presented with recurrent lower motor neuron type of weakness without sensory or autonomic involvement, with preserved reflexes. Systemic examination was significant for mild hepatosplenomegaly. Investigations revealed persistent hypokalemic, hyperchloremic, normal-anion-gap metabolic acidosis with deranged liver functions. Urine pH was 6.0 even after oral ammonium-chloride loading test. Type I renal tubular acidosis was diagnosed. A search for the etiology revealed bilateral Kayser-Fleischer ring, with low serum ceruloplasmin levels and high urinary copper, confirming it to be Wilson's disease.
Chakraborty
Partha Pratim
PP
Department of Medicine, Medical College, Kolkata 700 072, India. docparthapc@yahoo.co.in
Mandal
Sanjay Kumar
SK
Bandyopadhyay
Dipanjan
D
Bandyopadhyay
Ramtanu
R
Chowdhury
Subhasis Roy
SR
D000328:Adult; D003937:Diagnosis, Differential; D005121:Extremities; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology*