[Detection of vacuolated peripheral blood lymphocytes in screening for and diagnosis of XXXX ].

@entity2315 @entity1 @entity410 @entity851 @entity844 @entity3265 @entity535 @entity1687 @entity4918 @entity13785 @entity828 @entity12030 @entity8431 @entity194 @entity74 @entity880 @entity209 @entity2388 @entity2246
OBJECTIVE: @entity2315 are a group of @entity74 caused by deficiency of lysosomal enzymes or structural components. The manifestations of @entity2315 are complicated due to different @entity2246 . It has been reported that a range of @entity209 resulting in abnormal accumulation of metabolic byproducts may exhibit abnormal cytoplasmic vacuolation of lymphocytes. The aim of this study was to elicit the usefulness of vacuolated peripheral lymphocytes detection in screening and diagnosis of @entity2315 . METHOD: Clinical data of 42 @entity1 who underwent microscopic and electron microscopic examination of peripheral blood specimens in our department were retrospectively evaluated between January 2008 and December 2009. RESULT: Forty-two @entity1 with the suspected @entity2315 were included, these @entity1 presented with motor and @entity851 and/or regression. @entity410 occurred in 32 @entity1 . @entity828 were found in 4 @entity1 . Three @entity1 presented with declined visual acuity. @entity194 and/or abnormal signals were detected on cranial CT/MRI images in 24 @entity1 . Blood biochemical tests were normal. Serum levels of @entity3265 , @entity880 and @entity2388 were normal. Serum @entity535 profiles and urinary @entity4918 profiles were normal. Serum @entity844 profiles were normal. Vacuolated lymphocytes were detected on microscopic examination of blood film in 14 @entity1 , and 8 of these @entity1 were confirmed to have @entity2315 . Curvilinear body was found on electronic microscopic examination of peripheral lymphocytes specimens in 4 @entity1 , confirming the diagnosis of @entity12030 . In 3 of these 4 @entity1 , curvilinear body were also found on electronic microscopic examination of skin and/or muscle specimens. Enzyme analysis confirmed the diagnosis of @entity8431 in one @entity1 and @entity13785 in another @entity1 . Typical pathological changes were found on the examination of bone marrow in 2 @entity1 with normal acid sphingomyelinase activity. So the @entity1 were diagnosed with @entity1687 . The diagnosis of other 6 @entity1 with vacuolated lymphocytes was unknown. CONCLUSION: Because of its usefulness and minimal invasiveness, vacuolated peripheral lymphocytes examination should be a screening test for @entity2315 . As for @entity1 with suspected @entity12030 , electron microscopic examination of peripheral lymphocyte specimens may provide specific clues to the final diagnosis.
