Naslov
Spinalna i bulbarna amiotrofija, blefarospazam, Parkinsonov sindrom i hiperurikacidemija
(Spinal and bulbar amyotrophy, blepharospasm, Parkinson's syndrome and hyperuricaemia)

Autori
Mitrović, Z ; Jušić, A

Izvornik
Neurologija (0350-9559) 27 (1979); 111-116

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Blefarospazam; Lesch-Nyhan sindrom; Parkinsonova bolest
(Blepharospasm; Lesch-Nyhan Syndrome; Parkinson Disease)

Sažetak
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.

Izvorni jezik
Hrvatski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA