@entity6287 in XXXX .

@entity1 @entity39 @entity6287 @entity16369 @entity102 @entity74 @entity5684 @entity2693
INTRODUCTION: @entity5684 ( @entity5684 , @entity5684 ) is a rare (~ 1/1500.000), @entity74 (affects @entity1 ) due to deficiency of the lysosomal enzyme @entity16369 sulfatase (Xq.28). The complex clinical picture includes @entity6287 with a tendency to @entity2693 and disability. In our country, the specific diagnosis and enzyme replacement therapy (ERT), are recently available in the Center for Genetic Pathology Cluj. OBJECTIVES: Assessment of clinical features, radiological and imaging of @entity6287 in @entity5684 and their evolution under ERT. MATERIAL AND METHODS: The study included 9 male @entity1 with a suggestive clinical picture of @entity5684 ; the diagnosis was confirmed by enzymatic assay and the @entity1 were treated with ERT. @entity6287 was assessed before treatment: a) clinical tests (joint goniometry, walking test) and b) radiology (X-rays of the hand and wrist, spine and pelvis), bone densitometry in five @entity1 . Clinical tests were repeated after therapy. RESULTS: @entity102 was present in all @entity1 . Joint mobility was reduced with quasi stationary trend after 12 months of treatment. The walking test was improved after treatment. Radiological assessment revealed: hand bones changes, delayed bone age, vertebral changes, pelvis changes, kipho-scoliosis and @entity39 of the femoral head in 100%, 88%, 88%, 55% and 11% respectively. Bone mineral density was normal in five of the nine @entity1 evaluated. CONCLUSIONS: @entity102 with @entity2693 is an essential component of the clinical picture of @entity5684 . ERT allows an improvement/arrest of evolution (depending on disease severity and time of initiating therapy).
