Search results for "Curvilinear bodies"

Prenatal Ultrastructural Diagnosis in the Neuronal ceroid-lipofuscinoses

1994

Summary The neuronal ceroid-lipofuscinose (NCL) are autosomal-recessive disorders in childhood of unknown enzymatic origin. They can be recognized by the presence of abnormal lipopigments identified by electron microscopy. Based on the study of circulating lymphocytes, individual clinical subtypes of NCL can be correlated. Prenatal diagnosis of NCL with the electron microscope is now feasible for the infantile (Finnish) from (INCL) and late-infantile form (LINCL). INCL-specific granular lipopigments are present in endothelial cells of biopsied chorion stroma vessels of homozygously affected fetuses. In LINCL, disease-typical curvilinear bodies can be identified in uncultured amniotic fluid …