A 21-year-old euthyroid gentleman born to nonconsanguineous parents was diagnosed with bipolar affective disorder. He presented 4 years later with hypokalemic quadriparesis. On evaluation, he was found to have features of both proximal and distal renal tubular acidosis. Ophthalmologic examination by slit lamp confirmed the presence of the Kayser–Fleischer ring. The diagnosis of Wilson’s disease was established with serum ceruloplasmin levels and 24-h urinary copper levels.Here is a rare clinical presentation of Wilson’s disease in the form of hypokalemic muscle paralysis due to proximal renal tubular acidosis with distal tubule involvement. The diagnosis was delayed due to the initial presentation with psychiatric symptoms.
Split-hand/split-foot malformation (SHFM) is a rare congenital disorder arising due to the absence of one or more central digits of the hand or feet or both. Here, we describe a case of a 60-year-old gentleman with familial SHFM associated with a solitary mid pole cyst in the left kidney on imaging and chronic interstitial nephritis in renal biopsy.
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