Clinical presentation and treatment of XXXX : a single-centre experience.

@entity1 @entity3520 @entity132 @entity16 @entity2361 @entity3808 @entity1578 @entity2360 @entity717 @entity99 @entity5937 @entity4653
Thirty @entity1 with @entity2360 ( @entity2360 ) were observed at a @entity717 clinic between 1970 and 2000. Disease onset was at the mean age (SD) of 14.5 (+/-5.9) years. Presentation with @entity99 occurred in 12 of 30 @entity1 and with @entity16 in 15. Three @entity1 were asymptomatic at the time of diagnosis. The mean (SD) delay to diagnosis was 5.9 (+/-5.7) years. Five @entity1 diagnosed in an advanced stage of disease died before initiating treatment. Eighteen @entity1 were followed and treated with @entity2361 alone or in combination with @entity5937 . Treatment improved most of @entity16 . @entity3520 , @entity132 and @entity4653 were the most resistant neurological signs. 'Pseudo- @entity3808 ' neurologic involvement predicted a good outcome, whereas hepatic onset and 'classic' neurologic involvement were associated with a poorer prognosis. Two of the 18 treated @entity1 died of @entity1578 due to voluntary discontinuation of therapy. Both @entity2361 and @entity5937 were well tolerated. No teratogenic effect of @entity2361 was observed throughout 5 pregnancies. Our results suggest that @entity2361 or a combination of @entity2361 and @entity5937 is a safe and effective long-term treatment in @entity1 with @entity2360 .
