Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

Our 86 cases of neuronal ceroid-lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty-one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not included because of inadequate data. The clinical course was subacute in most children with the infantile and late infantile variants and chronic in the juvenile variant. Sixteen of 86 cases (19%) were considered to be atypical clinically [3/7 (43%) with the infantile variant, 3/28 (11%) with the late infantile variant, and 10/51 (20%) with the juvenile variant]. Clinical variability among and between families was most striking in the juvenile variant. Pathological investigations of skin, buffy coat and/or brain showed atypical and/or more than one type of cytoplasmic inclusions in 10/50 (20%) of late infantile and juvenile variants. All of the children with the infantile variant had granular, osmiophilic profile in tissues. Biochemical studies on the glycoproteins of cultured fibroblasts in three cases of juvenile NCL showed that there was a higher proportion of one size class of N-linked oligosaccharides and a higher proportion of mannose-containing glycoproteins in NCL than in control cells. This supports previous lectin histochemical studies of glycoconjugates in skin of juvenile NCL [Wisniewski and Szumanska, 1986] and suggests that there may be defects in the processing of N-linked oligosaccharides in the glycoproteins of juvenile NCL.