hrvatski

Spinalna i bulbarna amiotrofija, blefarospazam, Parkinsonov sindrom i hiperurikacidemija

A case with spinal and bulbar amyotrophy, Parkinson's syndrome, blepharospasm and hyperuricacidaemia is described. The differential diagnosis has been outlined with emphasis on the possibility of 'abortive' Lesh-Nyhan syndrome, and the partial deficit of the enzyme hypoxanthine- guanine phosphoribosyltransferase (HGPRT). With this purpose, serum uric acid level was measured following the administration of azathioprine (Imuran). Under the circumstances of investigation, the results have neither proved nor rejected an HGPRT deficit.

Blefarospazam; Lesch-Nyhan sindrom; Parkinsonova bolest

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